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Lili Magyari - One of the best experts on this subject based on the ideXlab platform.
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Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
World Journal of Gastroenterology, 2014Co-Authors: Patricia Sarlos, Veronika Csongei, Lili Magyari, Luca Jaromi, Dalma Várszegi, Lajos Nagy, Béla MeleghAbstract:AIM: To study the inflammatory bowel disease-5 locus (IBD5) and interleukin-23 receptor (IL23R) gene variants in UC patients and test for gene-gene interaction. METHODS: The study population (n = 625) was comprised of 320 unrelated ulcerative colitis (UC) patients with Caucasian origin and 316 age- and gender-matched, healthy controls. Five variants in the IBD5 locus (IGR2198a_1 rs11739135, IGR2096a_1 rs12521868, IGR2230a_1 rs17622208, SLC22A4 rs1050152 and SLC22A5 rs2631367) and two of the IL23R gene (rs1004819, rs2201841) were analysed. PCR and restriction fragment length polymorphism methods were used for genotyping, the SLC22A4 rs1050152 genotypes were determined by direct sequencing. Interactions and specific genotype combinations of the seven variants were tested by binary logistic regression analysis. The IL23R genotypes were stratified by IBD5 genotypes for further interaction analyses. RESULTS: For the IL23R rs1004819 A allele we found significantly higher allele frequency (P = 0.032) in UC patients compared to control subjects. The SNP rs1004819 showed significant association with UC risk for carriers (P = 0.004, OR = 1.606; 95%CI: 1.160-2.223) and the SNP rs2201841 for homozygotes (P = 0.030, OR = 1.983; 95%CI: 1.069-3.678). Individually none of the IBD5 markers conferred risk to UC development. There was no evidence for statistical interaction either between IBD5 loci and IL23R genes using logistic regression analysis. After genotype stratification, we could detect a positive association on the background of rs1004819 A allele for SLC22A4 T, SLC22A5 C, IGR2198a_1 C or IGR2096a_1 T allele, the highest OR was calculated in the presence of SLC22A4 T allele (P = 0.005, OR = 2.015; 95%CI: 1.230-3.300). There was no association with UC for any combinations of rs1004819 and IGR2230a_1. The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC. CONCLUSION: The present study has shown that UC susceptibility genes are likely to act in a complex interactive manner similar to CD.
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Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases
Orvosi hetilap, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Pal Miheller, Patricia Sarlos, Peter Orosz, Zsolt Bari, Istvan Takacs, Luca JaromiAbstract:Az idiopathias kronikus gyulladasos belbetegseg kialakulasaban kornyezeti tenyezők, immunologiai es genetikai faktorok egyarant szerepet jatszanak. Az utobbi evekben a CARD15 gen mellett egyre tobb adat tamasztja ala mas genek, tobbek kozott az 5q31-33 regioban elhelyezkedő IBD5 locus (MIM#606348) szerepet. Egyes tanulmanyok ezen regioban az SLC22A4 gen C1672T szubsztituciojanak, illetve az SLC22A5 gen G-207C transzverziojanak egyuttes szerepet hangsulyozzak, kulonosen Crohn-betegseg kialakulasaban, mig mas szerzők uj minor hajlamosito tenyezőket azonositottak az IBD5 kromoszomaregioban, ezek az IGR-variansok. Celkitűzes: Az SLC22A4 C1672T es SLC22A5 G-207C mutaciok mellett az IGR2096a_1 (rs12521868) es az IGR2198a_1 (rs11739135) polimorfizmusok szerepenek vizsgalata gyulladasos belbetegseg kialakulasaban. Betegek es modszer: Vizsgalatunk soran 440 gyulladasos belbeteg (206 Crohn- es 234 colitis ulcerosas beteg), valamint 279 kontrollegyen periferias vermintajabol PCR-RFLP technikaval vegeztunk DNS-analiz...
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possible role of selected igr and slc22a4 SLC22A5 loci in development of inflammatory bowel diseases
Orvosi Hetilap, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Pal Miheller, Patricia Sarlos, Peter Orosz, Zsolt Bari, Istvan Takacs, Luca JaromiAbstract:Az idiopathias kronikus gyulladasos belbetegseg kialakulasaban kornyezeti tenyezők, immunologiai es genetikai faktorok egyarant szerepet jatszanak. Az utobbi evekben a CARD15 gen mellett egyre tobb adat tamasztja ala mas genek, tobbek kozott az 5q31-33 regioban elhelyezkedő IBD5 locus (MIM#606348) szerepet. Egyes tanulmanyok ezen regioban az SLC22A4 gen C1672T szubsztituciojanak, illetve az SLC22A5 gen G-207C transzverziojanak egyuttes szerepet hangsulyozzak, kulonosen Crohn-betegseg kialakulasaban, mig mas szerzők uj minor hajlamosito tenyezőket azonositottak az IBD5 kromoszomaregioban, ezek az IGR-variansok. Celkitűzes: Az SLC22A4 C1672T es SLC22A5 G-207C mutaciok mellett az IGR2096a_1 (rs12521868) es az IGR2198a_1 (rs11739135) polimorfizmusok szerepenek vizsgalata gyulladasos belbetegseg kialakulasaban. Betegek es modszer: Vizsgalatunk soran 440 gyulladasos belbeteg (206 Crohn- es 234 colitis ulcerosas beteg), valamint 279 kontrollegyen periferias vermintajabol PCR-RFLP technikaval vegeztunk DNS-analiz...
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IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn’s disease in Hungarian patients
International Journal of Colorectal Disease, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Patricia Sarlos, Peter Orosz, Luca Jaromi, Judit Bene, Enikő Sáfrány, Pal MihellerAbstract:Background and aims We investigated the possible association of IBD with C1672T of SLC22A4 and G-207C of SLC22A5 alleles, and with the novel IGR2096a_1 (rs12521868) and IGR2198a_1 (rs11739135) susceptibility loci, all located on IBD5 locus of chromosome 5q31. Materials and methods DNA of 217 Crohn’s disease, 252 ulcerative colitis, and 290 control patients were analyzed by polymerase chain reaction/restriction fragment length polymorphism methods. Results Neither the C1672T and G-207C alleles, nor the TC haplotype were found to be risk factors. By contrast, the minor allele frequencies of IGR2096a_1 T (47.2%) and IGR2198a_1 C (45.9%) were increased in Crohn’s disease compared with the controls (38.2% and 37.7%, respectively; p
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Susceptibility genetic variants in Hungarian morbus Crohn and ulcerative colitis patients
Orvosi Hetilap, 2009Co-Authors: Lili Magyari, Béla MeleghAbstract:Gyulladasos belbetegsegekre (Crohn-betegseg, colitis ulcerosa) hajlamosito genek vizsgalatat vegeztuk magyar populacioban, ezek a CARD15 gen R702W, G908R, 1007finsC variansai, az SLC22A4 gen C1672T es az SLC22A5 G-207C variansai, valamint az altaluk meghatarozott TC haplotipus, a CTLA4 gen A+49G elterese es az IL23R gen rs10889677 C/A, rs2201841 T/C, rs1884444 G/T variansai. Vizsgalataink soran 201 felnőtt Crohn-beteg, 241 felnőtt colitis ulcerosas, valamint 19 gyermek Crohn-beteget analizaltunk. Kontrollnak 235 felnőttől es 49 gyermektől vettunk vert. A genotipizalas soran PCR/RFLP modszert es direkt szekvenalast alkalmaztunk. Eredmenyeink alapjan kijelenthetjuk, hogy a CARD15 gen mutacioi kozul felnőttekben az 1007finsC, mig gyermekekben az 1007finsC es a G908R varians is hajlamosit Crohn-betegseg kialakulasara. Az SLC22A4 es SLC22A5 genek altal meghatarozott TC haplotipus eseten nem talaltunk szignifikans kulonbseget a betegcsoportok kontrollokkal valo osszevetese soran. A CTLA4 gen A+49G variansa nem ...
Béla Melegh - One of the best experts on this subject based on the ideXlab platform.
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Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.
Case reports in genetics, 2015Co-Authors: Hatice Mutlu-albayrak, Judit Bene, Mehmet Burhan Oflaz, Tijen Tanyalçın, Hüseyin Çaksen, Béla MeleghAbstract:Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature.
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Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
World Journal of Gastroenterology, 2014Co-Authors: Patricia Sarlos, Veronika Csongei, Lili Magyari, Luca Jaromi, Dalma Várszegi, Lajos Nagy, Béla MeleghAbstract:AIM: To study the inflammatory bowel disease-5 locus (IBD5) and interleukin-23 receptor (IL23R) gene variants in UC patients and test for gene-gene interaction. METHODS: The study population (n = 625) was comprised of 320 unrelated ulcerative colitis (UC) patients with Caucasian origin and 316 age- and gender-matched, healthy controls. Five variants in the IBD5 locus (IGR2198a_1 rs11739135, IGR2096a_1 rs12521868, IGR2230a_1 rs17622208, SLC22A4 rs1050152 and SLC22A5 rs2631367) and two of the IL23R gene (rs1004819, rs2201841) were analysed. PCR and restriction fragment length polymorphism methods were used for genotyping, the SLC22A4 rs1050152 genotypes were determined by direct sequencing. Interactions and specific genotype combinations of the seven variants were tested by binary logistic regression analysis. The IL23R genotypes were stratified by IBD5 genotypes for further interaction analyses. RESULTS: For the IL23R rs1004819 A allele we found significantly higher allele frequency (P = 0.032) in UC patients compared to control subjects. The SNP rs1004819 showed significant association with UC risk for carriers (P = 0.004, OR = 1.606; 95%CI: 1.160-2.223) and the SNP rs2201841 for homozygotes (P = 0.030, OR = 1.983; 95%CI: 1.069-3.678). Individually none of the IBD5 markers conferred risk to UC development. There was no evidence for statistical interaction either between IBD5 loci and IL23R genes using logistic regression analysis. After genotype stratification, we could detect a positive association on the background of rs1004819 A allele for SLC22A4 T, SLC22A5 C, IGR2198a_1 C or IGR2096a_1 T allele, the highest OR was calculated in the presence of SLC22A4 T allele (P = 0.005, OR = 2.015; 95%CI: 1.230-3.300). There was no association with UC for any combinations of rs1004819 and IGR2230a_1. The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC. CONCLUSION: The present study has shown that UC susceptibility genes are likely to act in a complex interactive manner similar to CD.
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Susceptibility genetic variants in Hungarian morbus Crohn and ulcerative colitis patients
Orvosi Hetilap, 2009Co-Authors: Lili Magyari, Béla MeleghAbstract:Gyulladasos belbetegsegekre (Crohn-betegseg, colitis ulcerosa) hajlamosito genek vizsgalatat vegeztuk magyar populacioban, ezek a CARD15 gen R702W, G908R, 1007finsC variansai, az SLC22A4 gen C1672T es az SLC22A5 G-207C variansai, valamint az altaluk meghatarozott TC haplotipus, a CTLA4 gen A+49G elterese es az IL23R gen rs10889677 C/A, rs2201841 T/C, rs1884444 G/T variansai. Vizsgalataink soran 201 felnőtt Crohn-beteg, 241 felnőtt colitis ulcerosas, valamint 19 gyermek Crohn-beteget analizaltunk. Kontrollnak 235 felnőttől es 49 gyermektől vettunk vert. A genotipizalas soran PCR/RFLP modszert es direkt szekvenalast alkalmaztunk. Eredmenyeink alapjan kijelenthetjuk, hogy a CARD15 gen mutacioi kozul felnőttekben az 1007finsC, mig gyermekekben az 1007finsC es a G908R varians is hajlamosit Crohn-betegseg kialakulasara. Az SLC22A4 es SLC22A5 genek altal meghatarozott TC haplotipus eseten nem talaltunk szignifikans kulonbseget a betegcsoportok kontrollokkal valo osszevetese soran. A CTLA4 gen A+49G variansa nem ...
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Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease
World Journal of Gastroenterology, 2006Co-Authors: Judit Bene, Lili Magyari, Katalin Komlósi, Gábor Talián, Beáta Gasztonyi, Gyula Mózsik, Beáta Tari, A. Várkonyi, Béla MeleghAbstract:AIM: To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn’s disease (CD). METHODS: A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn’s disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C→T, and SLC22A5 -207G→C mutations was performed by direct sequencing of the specifi c regions of these genes. RESULTS: At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profi le was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls. CONCLUSION: The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD.
Judit Bene - One of the best experts on this subject based on the ideXlab platform.
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Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.
Case reports in genetics, 2015Co-Authors: Hatice Mutlu-albayrak, Judit Bene, Mehmet Burhan Oflaz, Tijen Tanyalçın, Hüseyin Çaksen, Béla MeleghAbstract:Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature.
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IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn’s disease in Hungarian patients
International Journal of Colorectal Disease, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Patricia Sarlos, Peter Orosz, Luca Jaromi, Judit Bene, Enikő Sáfrány, Pal MihellerAbstract:Background and aims We investigated the possible association of IBD with C1672T of SLC22A4 and G-207C of SLC22A5 alleles, and with the novel IGR2096a_1 (rs12521868) and IGR2198a_1 (rs11739135) susceptibility loci, all located on IBD5 locus of chromosome 5q31. Materials and methods DNA of 217 Crohn’s disease, 252 ulcerative colitis, and 290 control patients were analyzed by polymerase chain reaction/restriction fragment length polymorphism methods. Results Neither the C1672T and G-207C alleles, nor the TC haplotype were found to be risk factors. By contrast, the minor allele frequencies of IGR2096a_1 T (47.2%) and IGR2198a_1 C (45.9%) were increased in Crohn’s disease compared with the controls (38.2% and 37.7%, respectively; p
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Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes.
British Journal of Nutrition, 2007Co-Authors: Judit Bene, Lili Magyari, Pal Miheller, Katalin Komlósi, Gábor Talián, Krisztina Horváth, Beáta Gasztonyi, Mária Figler, Gyula Mózsik, Zsolt TulassayAbstract:Crohn's disease (CD) is a chronic inflammatory bowel disorder caused by environmental and genetic factors. The purpose of this study was to analyse the possible influence of functional variants of genes of OCTN cation transporters on the carnitine ester profile of patients with CD. Genotyping for SLC22A4 1672C --> T, SLC22A5-207G --> C mutations and three common NOD2 variants (R702W, G908R and 1007finsC) were performed in 100 adult CD patients and in ninety-four healthy controls by direct sequencing. The carnitine ester profile was determined using ESI triple quadrupole tandem MS. Contrary to the NOD2/CARD15 mutations, none of the SLC variants showed increased prevalence in the CD group, the prevalence of TC haplotype did not differ between the patients and the controls. In the mixed group of CD patients the fasting propionyl- (0.243 (sem 0.008) v. 0.283 (sem 0.014) micromol/l), butyryl- (0.274 (sem 0.009) v. 0.301 (sem 0.013)) and isovalerylcarnitine (0.147 (sem 0.006) v. 0.185 (sem 0.009)) levels were decreased; while the level of octenoyl- (0.086 (sem 0.006) v. 0.069 (sem 0.005)), myristoleyl- (0.048 (sem 0.003) v. 0.037 (sem 0.003)), palmitoyl- (0.140 (sem 0.005) v. 0.122 (sem 0.004)) and oleylcarnitine (0.172 (sem 0.006) v. 0.156 (sem 0.008); P < 0.05 in all comparisons) were increased. After sorting the patients into SLC22A genotype-specific subgroups, no significant differences could be observed between them. The carnitine ester profile data suggest selective involvement of the carnitine esters in CD patients, probably due to their altered metabolism.
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Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients.
Pathology & Oncology Research, 2007Co-Authors: Lili Magyari, Veronika Csongei, Luca Jaromi, Judit Bene, Katalin Komlósi, Gábor Talián, Bernadett Faragó, Enikő Sáfrány, Csilla Sipeky, Lilla LaknerAbstract:Ulcerative colitis (UC) is a chronic inflammatory disease of the gastrointestinal tract. The aim of this study was to verify the prevalence rate of the haplotype called TC, determined by combination of two functional alleles of OCTN cation transporter genes (SLC22A4 1672T and SLC22A5 /t-207C combination variants) in ulcerative colitis patients and unrelated healthy controls. The “TC haplotype” has recently been suggested to confer risk for UC. A total of 121 unrelated Hungarian subjects with UC and 110 matched controls were genotyped for the two single nucleotide polymorphisms. The genotypes were determined by using PCR/RFLP assay and direct sequencing. The SLC22A4 1672T allele frequency was 46.7% in the patients with UC and 46.4% in the controls, whereas the SLC22A5 −207C allele occurred in 48.8% of the patients and 51.4% of the controls. The prevalence of the TC haplotype was 19% in the patient group and 22.7% in controls. Since there was no accumulation of the TC haplotype in the patient group, our observation suggests that carrying the TC haplotype is not associated with a higher risk for UC in the Hungarian population.
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Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease
World Journal of Gastroenterology, 2006Co-Authors: Judit Bene, Lili Magyari, Katalin Komlósi, Gábor Talián, Beáta Gasztonyi, Gyula Mózsik, Beáta Tari, A. Várkonyi, Béla MeleghAbstract:AIM: To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn’s disease (CD). METHODS: A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn’s disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C→T, and SLC22A5 -207G→C mutations was performed by direct sequencing of the specifi c regions of these genes. RESULTS: At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profi le was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls. CONCLUSION: The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD.
Luca Jaromi - One of the best experts on this subject based on the ideXlab platform.
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Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
World Journal of Gastroenterology, 2014Co-Authors: Patricia Sarlos, Veronika Csongei, Lili Magyari, Luca Jaromi, Dalma Várszegi, Lajos Nagy, Béla MeleghAbstract:AIM: To study the inflammatory bowel disease-5 locus (IBD5) and interleukin-23 receptor (IL23R) gene variants in UC patients and test for gene-gene interaction. METHODS: The study population (n = 625) was comprised of 320 unrelated ulcerative colitis (UC) patients with Caucasian origin and 316 age- and gender-matched, healthy controls. Five variants in the IBD5 locus (IGR2198a_1 rs11739135, IGR2096a_1 rs12521868, IGR2230a_1 rs17622208, SLC22A4 rs1050152 and SLC22A5 rs2631367) and two of the IL23R gene (rs1004819, rs2201841) were analysed. PCR and restriction fragment length polymorphism methods were used for genotyping, the SLC22A4 rs1050152 genotypes were determined by direct sequencing. Interactions and specific genotype combinations of the seven variants were tested by binary logistic regression analysis. The IL23R genotypes were stratified by IBD5 genotypes for further interaction analyses. RESULTS: For the IL23R rs1004819 A allele we found significantly higher allele frequency (P = 0.032) in UC patients compared to control subjects. The SNP rs1004819 showed significant association with UC risk for carriers (P = 0.004, OR = 1.606; 95%CI: 1.160-2.223) and the SNP rs2201841 for homozygotes (P = 0.030, OR = 1.983; 95%CI: 1.069-3.678). Individually none of the IBD5 markers conferred risk to UC development. There was no evidence for statistical interaction either between IBD5 loci and IL23R genes using logistic regression analysis. After genotype stratification, we could detect a positive association on the background of rs1004819 A allele for SLC22A4 T, SLC22A5 C, IGR2198a_1 C or IGR2096a_1 T allele, the highest OR was calculated in the presence of SLC22A4 T allele (P = 0.005, OR = 2.015; 95%CI: 1.230-3.300). There was no association with UC for any combinations of rs1004819 and IGR2230a_1. The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC. CONCLUSION: The present study has shown that UC susceptibility genes are likely to act in a complex interactive manner similar to CD.
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Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases
Orvosi hetilap, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Pal Miheller, Patricia Sarlos, Peter Orosz, Zsolt Bari, Istvan Takacs, Luca JaromiAbstract:Az idiopathias kronikus gyulladasos belbetegseg kialakulasaban kornyezeti tenyezők, immunologiai es genetikai faktorok egyarant szerepet jatszanak. Az utobbi evekben a CARD15 gen mellett egyre tobb adat tamasztja ala mas genek, tobbek kozott az 5q31-33 regioban elhelyezkedő IBD5 locus (MIM#606348) szerepet. Egyes tanulmanyok ezen regioban az SLC22A4 gen C1672T szubsztituciojanak, illetve az SLC22A5 gen G-207C transzverziojanak egyuttes szerepet hangsulyozzak, kulonosen Crohn-betegseg kialakulasaban, mig mas szerzők uj minor hajlamosito tenyezőket azonositottak az IBD5 kromoszomaregioban, ezek az IGR-variansok. Celkitűzes: Az SLC22A4 C1672T es SLC22A5 G-207C mutaciok mellett az IGR2096a_1 (rs12521868) es az IGR2198a_1 (rs11739135) polimorfizmusok szerepenek vizsgalata gyulladasos belbetegseg kialakulasaban. Betegek es modszer: Vizsgalatunk soran 440 gyulladasos belbeteg (206 Crohn- es 234 colitis ulcerosas beteg), valamint 279 kontrollegyen periferias vermintajabol PCR-RFLP technikaval vegeztunk DNS-analiz...
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possible role of selected igr and slc22a4 SLC22A5 loci in development of inflammatory bowel diseases
Orvosi Hetilap, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Pal Miheller, Patricia Sarlos, Peter Orosz, Zsolt Bari, Istvan Takacs, Luca JaromiAbstract:Az idiopathias kronikus gyulladasos belbetegseg kialakulasaban kornyezeti tenyezők, immunologiai es genetikai faktorok egyarant szerepet jatszanak. Az utobbi evekben a CARD15 gen mellett egyre tobb adat tamasztja ala mas genek, tobbek kozott az 5q31-33 regioban elhelyezkedő IBD5 locus (MIM#606348) szerepet. Egyes tanulmanyok ezen regioban az SLC22A4 gen C1672T szubsztituciojanak, illetve az SLC22A5 gen G-207C transzverziojanak egyuttes szerepet hangsulyozzak, kulonosen Crohn-betegseg kialakulasaban, mig mas szerzők uj minor hajlamosito tenyezőket azonositottak az IBD5 kromoszomaregioban, ezek az IGR-variansok. Celkitűzes: Az SLC22A4 C1672T es SLC22A5 G-207C mutaciok mellett az IGR2096a_1 (rs12521868) es az IGR2198a_1 (rs11739135) polimorfizmusok szerepenek vizsgalata gyulladasos belbetegseg kialakulasaban. Betegek es modszer: Vizsgalatunk soran 440 gyulladasos belbeteg (206 Crohn- es 234 colitis ulcerosas beteg), valamint 279 kontrollegyen periferias vermintajabol PCR-RFLP technikaval vegeztunk DNS-analiz...
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IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn’s disease in Hungarian patients
International Journal of Colorectal Disease, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Patricia Sarlos, Peter Orosz, Luca Jaromi, Judit Bene, Enikő Sáfrány, Pal MihellerAbstract:Background and aims We investigated the possible association of IBD with C1672T of SLC22A4 and G-207C of SLC22A5 alleles, and with the novel IGR2096a_1 (rs12521868) and IGR2198a_1 (rs11739135) susceptibility loci, all located on IBD5 locus of chromosome 5q31. Materials and methods DNA of 217 Crohn’s disease, 252 ulcerative colitis, and 290 control patients were analyzed by polymerase chain reaction/restriction fragment length polymorphism methods. Results Neither the C1672T and G-207C alleles, nor the TC haplotype were found to be risk factors. By contrast, the minor allele frequencies of IGR2096a_1 T (47.2%) and IGR2198a_1 C (45.9%) were increased in Crohn’s disease compared with the controls (38.2% and 37.7%, respectively; p
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Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients.
Pathology & Oncology Research, 2007Co-Authors: Lili Magyari, Veronika Csongei, Luca Jaromi, Judit Bene, Katalin Komlósi, Gábor Talián, Bernadett Faragó, Enikő Sáfrány, Csilla Sipeky, Lilla LaknerAbstract:Ulcerative colitis (UC) is a chronic inflammatory disease of the gastrointestinal tract. The aim of this study was to verify the prevalence rate of the haplotype called TC, determined by combination of two functional alleles of OCTN cation transporter genes (SLC22A4 1672T and SLC22A5 /t-207C combination variants) in ulcerative colitis patients and unrelated healthy controls. The “TC haplotype” has recently been suggested to confer risk for UC. A total of 121 unrelated Hungarian subjects with UC and 110 matched controls were genotyped for the two single nucleotide polymorphisms. The genotypes were determined by using PCR/RFLP assay and direct sequencing. The SLC22A4 1672T allele frequency was 46.7% in the patients with UC and 46.4% in the controls, whereas the SLC22A5 −207C allele occurred in 48.8% of the patients and 51.4% of the controls. The prevalence of the TC haplotype was 19% in the patient group and 22.7% in controls. Since there was no accumulation of the TC haplotype in the patient group, our observation suggests that carrying the TC haplotype is not associated with a higher risk for UC in the Hungarian population.
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Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
World Journal of Gastroenterology, 2014Co-Authors: Patricia Sarlos, Veronika Csongei, Lili Magyari, Luca Jaromi, Dalma Várszegi, Lajos Nagy, Béla MeleghAbstract:AIM: To study the inflammatory bowel disease-5 locus (IBD5) and interleukin-23 receptor (IL23R) gene variants in UC patients and test for gene-gene interaction. METHODS: The study population (n = 625) was comprised of 320 unrelated ulcerative colitis (UC) patients with Caucasian origin and 316 age- and gender-matched, healthy controls. Five variants in the IBD5 locus (IGR2198a_1 rs11739135, IGR2096a_1 rs12521868, IGR2230a_1 rs17622208, SLC22A4 rs1050152 and SLC22A5 rs2631367) and two of the IL23R gene (rs1004819, rs2201841) were analysed. PCR and restriction fragment length polymorphism methods were used for genotyping, the SLC22A4 rs1050152 genotypes were determined by direct sequencing. Interactions and specific genotype combinations of the seven variants were tested by binary logistic regression analysis. The IL23R genotypes were stratified by IBD5 genotypes for further interaction analyses. RESULTS: For the IL23R rs1004819 A allele we found significantly higher allele frequency (P = 0.032) in UC patients compared to control subjects. The SNP rs1004819 showed significant association with UC risk for carriers (P = 0.004, OR = 1.606; 95%CI: 1.160-2.223) and the SNP rs2201841 for homozygotes (P = 0.030, OR = 1.983; 95%CI: 1.069-3.678). Individually none of the IBD5 markers conferred risk to UC development. There was no evidence for statistical interaction either between IBD5 loci and IL23R genes using logistic regression analysis. After genotype stratification, we could detect a positive association on the background of rs1004819 A allele for SLC22A4 T, SLC22A5 C, IGR2198a_1 C or IGR2096a_1 T allele, the highest OR was calculated in the presence of SLC22A4 T allele (P = 0.005, OR = 2.015; 95%CI: 1.230-3.300). There was no association with UC for any combinations of rs1004819 and IGR2230a_1. The IL23R rs2201841 homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC. CONCLUSION: The present study has shown that UC susceptibility genes are likely to act in a complex interactive manner similar to CD.
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Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases
Orvosi hetilap, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Pal Miheller, Patricia Sarlos, Peter Orosz, Zsolt Bari, Istvan Takacs, Luca JaromiAbstract:Az idiopathias kronikus gyulladasos belbetegseg kialakulasaban kornyezeti tenyezők, immunologiai es genetikai faktorok egyarant szerepet jatszanak. Az utobbi evekben a CARD15 gen mellett egyre tobb adat tamasztja ala mas genek, tobbek kozott az 5q31-33 regioban elhelyezkedő IBD5 locus (MIM#606348) szerepet. Egyes tanulmanyok ezen regioban az SLC22A4 gen C1672T szubsztituciojanak, illetve az SLC22A5 gen G-207C transzverziojanak egyuttes szerepet hangsulyozzak, kulonosen Crohn-betegseg kialakulasaban, mig mas szerzők uj minor hajlamosito tenyezőket azonositottak az IBD5 kromoszomaregioban, ezek az IGR-variansok. Celkitűzes: Az SLC22A4 C1672T es SLC22A5 G-207C mutaciok mellett az IGR2096a_1 (rs12521868) es az IGR2198a_1 (rs11739135) polimorfizmusok szerepenek vizsgalata gyulladasos belbetegseg kialakulasaban. Betegek es modszer: Vizsgalatunk soran 440 gyulladasos belbeteg (206 Crohn- es 234 colitis ulcerosas beteg), valamint 279 kontrollegyen periferias vermintajabol PCR-RFLP technikaval vegeztunk DNS-analiz...
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possible role of selected igr and slc22a4 SLC22A5 loci in development of inflammatory bowel diseases
Orvosi Hetilap, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Pal Miheller, Patricia Sarlos, Peter Orosz, Zsolt Bari, Istvan Takacs, Luca JaromiAbstract:Az idiopathias kronikus gyulladasos belbetegseg kialakulasaban kornyezeti tenyezők, immunologiai es genetikai faktorok egyarant szerepet jatszanak. Az utobbi evekben a CARD15 gen mellett egyre tobb adat tamasztja ala mas genek, tobbek kozott az 5q31-33 regioban elhelyezkedő IBD5 locus (MIM#606348) szerepet. Egyes tanulmanyok ezen regioban az SLC22A4 gen C1672T szubsztituciojanak, illetve az SLC22A5 gen G-207C transzverziojanak egyuttes szerepet hangsulyozzak, kulonosen Crohn-betegseg kialakulasaban, mig mas szerzők uj minor hajlamosito tenyezőket azonositottak az IBD5 kromoszomaregioban, ezek az IGR-variansok. Celkitűzes: Az SLC22A4 C1672T es SLC22A5 G-207C mutaciok mellett az IGR2096a_1 (rs12521868) es az IGR2198a_1 (rs11739135) polimorfizmusok szerepenek vizsgalata gyulladasos belbetegseg kialakulasaban. Betegek es modszer: Vizsgalatunk soran 440 gyulladasos belbeteg (206 Crohn- es 234 colitis ulcerosas beteg), valamint 279 kontrollegyen periferias vermintajabol PCR-RFLP technikaval vegeztunk DNS-analiz...
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IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn’s disease in Hungarian patients
International Journal of Colorectal Disease, 2009Co-Authors: Lilla Lakner, Veronika Csongei, Lili Magyari, Marta Varga, Patricia Sarlos, Peter Orosz, Luca Jaromi, Judit Bene, Enikő Sáfrány, Pal MihellerAbstract:Background and aims We investigated the possible association of IBD with C1672T of SLC22A4 and G-207C of SLC22A5 alleles, and with the novel IGR2096a_1 (rs12521868) and IGR2198a_1 (rs11739135) susceptibility loci, all located on IBD5 locus of chromosome 5q31. Materials and methods DNA of 217 Crohn’s disease, 252 ulcerative colitis, and 290 control patients were analyzed by polymerase chain reaction/restriction fragment length polymorphism methods. Results Neither the C1672T and G-207C alleles, nor the TC haplotype were found to be risk factors. By contrast, the minor allele frequencies of IGR2096a_1 T (47.2%) and IGR2198a_1 C (45.9%) were increased in Crohn’s disease compared with the controls (38.2% and 37.7%, respectively; p
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Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients.
Pathology & Oncology Research, 2007Co-Authors: Lili Magyari, Veronika Csongei, Luca Jaromi, Judit Bene, Katalin Komlósi, Gábor Talián, Bernadett Faragó, Enikő Sáfrány, Csilla Sipeky, Lilla LaknerAbstract:Ulcerative colitis (UC) is a chronic inflammatory disease of the gastrointestinal tract. The aim of this study was to verify the prevalence rate of the haplotype called TC, determined by combination of two functional alleles of OCTN cation transporter genes (SLC22A4 1672T and SLC22A5 /t-207C combination variants) in ulcerative colitis patients and unrelated healthy controls. The “TC haplotype” has recently been suggested to confer risk for UC. A total of 121 unrelated Hungarian subjects with UC and 110 matched controls were genotyped for the two single nucleotide polymorphisms. The genotypes were determined by using PCR/RFLP assay and direct sequencing. The SLC22A4 1672T allele frequency was 46.7% in the patients with UC and 46.4% in the controls, whereas the SLC22A5 −207C allele occurred in 48.8% of the patients and 51.4% of the controls. The prevalence of the TC haplotype was 19% in the patient group and 22.7% in controls. Since there was no accumulation of the TC haplotype in the patient group, our observation suggests that carrying the TC haplotype is not associated with a higher risk for UC in the Hungarian population.