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Ching Shan Huang - One of the best experts on this subject based on the ideXlab platform.

  • effect of udp Glucuronosyltransferase 1A1 activity on risk for developing gilbert s syndrome
    Kaohsiung Journal of Medical Sciences, 2019
    Co-Authors: May-jen Huang, Yi-chun Chen, Yang-yang Huang, Pei-lain Chen, Siensing Yang, Ching Shan Huang
    Abstract:

    Variations at the six nucleotides -3279 (T > G), -53 (A[TA]6 TAA > A[TA]7 TAA), 211 (G > A), 686 (C > A), 1091 (C > T), and 1456 (T > G) in the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene were determined in 178 Taiwanese patients with Gilbert's syndrome and in 200 healthy adults. Every subject was classified as a genotype depending on variation status of the six nucleotides in the UGT1A1 gene. The UGT1A1 activity for each genotype was calculated and then those genotypes were divided into 10 subgroups (Q1~Q10) according to their UGT1A1 activities, by using 10% as an interval. There were 24 genotypes observed, with UGT1A1 activity ranged 9%~100% of normal. There were two and six subjects with Gilbert's syndrome and none of healthy controls carrying genotypes in the Q1 and Q2 subgroups, respectively. The odds of developing Gilbert's syndrome were significantly higher for subjects carrying genotypes in the Q3, Q4, and Q5 subgroups than for those with genotype in the Q10 subgroup (odds ratios: 240.22, 59.80, and 14.67, respectively, P < .001 for each). Among the 178 patients of Gilbert's syndrome, serum bilirubin value was inversely correlated with UGT1A1 activity (r = -.306, P < .001). The sensitivity was 72.0% and the specificity was 90.5% by using UGT1A1 activity ≦40% of normal as the cut-off point to distinguish between healthy subjects and patients of Gilbert's syndrome. Our results demonstrate that UGT1A1 activity is certainly a determinate for serum bilirubin value and UGT1A1 activity ≦40% of normal is a proper risk factor for the development of Gilbert's syndrome.

  • Effects of variant UDP-Glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis.
    World journal of gastroenterology, 2005
    Co-Authors: Yang-yang Huang, May-jen Huang, Siensing Yang, Ching-shui Huang, Min-shung Lin, Ching Shan Huang
    Abstract:

    AIM: To test the hypothesis that the variant UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of cholelithiasis. METHODS: A total of 372 Taiwan Chinese with cholelithiasis who had undergone cholecystectomy and 293 healthy individuals were divided into case and control groups, respectively. PCR and restriction fragment length polymorphism were used to analyze the promoter area and nucleotides 211, 686, 1 091, and 1 456 of the UGT1A1 gene for all subjects and the gene variants for thalassemia and G6PD deficiency. RESULTS: Variation frequencies for the cholelithiasis patients were 16.1%, 25.8%, 5.4%, and 4.3% for A(TA)6 TAA/A(TA)7TAA (6/7), heterozygosity within the coding region, compound heterozygosity, and homozygosity of the UGT1A1 gene, respectively. Comparing the case and control groups, a statistically significant difference in frequency was demonstrated for the homozygous variation of the UGT1A1 gene (P = 0.012, χ2 test), but not for the other variations. Further, no difference was demonstrated in a between-group comparison of the incidence of G6PD deficiency and thalassemia (2.7% vs 2.4% and 5.1% vs 5.1%, respectively). The bilirubin levels for the cholelithiasis patients with the homozygous variant-UGT1A1 gene were significantly different from the control analog (18.0 ± 6.5 and 12.7 ± 2.9 μmol/L, respectively; P

  • effects of variant udp Glucuronosyltransferase 1A1 gene glucose 6 phosphate dehydrogenase deficiency and thalassemia on cholelithiasis
    World Journal of Gastroenterology, 2005
    Co-Authors: Yang-yang Huang, May-jen Huang, Siensing Yang, Ching-shui Huang, Min-shung Lin, Ching Shan Huang
    Abstract:

    AIM: To test the hypothesis that the variant UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of cholelithiasis. METHODS: A total of 372 Taiwan Chinese with cholelithiasis who had undergone cholecystectomy and 293 healthy individuals were divided into case and control groups, respectively. PCR and restriction fragment length polymorphism were used to analyze the promoter area and nucleotides 211, 686, 1 091, and 1 456 of the UGT1A1 gene for all subjects and the gene variants for thalassemia and G6PD deficiency. RESULTS: Variation frequencies for the cholelithiasis patients were 16.1%, 25.8%, 5.4%, and 4.3% for A(TA)6 TAA/A(TA)7TAA (6/7), heterozygosity within the coding region, compound heterozygosity, and homozygosity of the UGT1A1 gene, respectively. Comparing the case and control groups, a statistically significant difference in frequency was demonstrated for the homozygous variation of the UGT1A1 gene (P = 0.012, χ2 test), but not for the other variations. Further, no difference was demonstrated in a between-group comparison of the incidence of G6PD deficiency and thalassemia (2.7% vs 2.4% and 5.1% vs 5.1%, respectively). The bilirubin levels for the cholelithiasis patients with the homozygous variant-UGT1A1 gene were significantly different from the control analog (18.0 ± 6.5 and 12.7 ± 2.9 μmol/L, respectively; P<0.001, Student’s t test). CONCLUSION: Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese.

  • Genetic factors related to unconjugated hyperbilirubinemia amongst adults.
    Pharmacogenetics and genomics, 2005
    Co-Authors: Ching Shan Huang, Hsiu Chen Teng, May-jen Huang, Siensing Yang, Min-shung Lin, Kung Sheng Tang
    Abstract:

    Some variations in the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene are involved in the development of unconjugated hyperbilirubinemia. We hypothesize that other genetic factors may also be associated with this disease. A total of 227 adults with normal routine haematology and liver function (apart

  • Risk factors for severe hyperbilirubinemia in neonates
    Pediatric Research, 2004
    Co-Authors: May J. Huang, Ka E. Kua, Hsiu Chen Teng, Kung Sheng Tang, Hui W. Weng, Ching Shan Huang
    Abstract:

    The incidence of severe neonatal hyperbilirubinemia is higher in Asians than in whites. A case-control study was designed to investigate the effects of eight known risk factors [breast feeding, ABO incompatibility, premature birth, infection, cephalohematoma, asphyxia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and variant UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene] and a suspicious analog [organic anion transporter 2 (OATP 2) gene] on severe hyperbilirubinemia in Taiwanese neonates. The 72 study subjects and 100 hospital control subjects consisted of neonates with peak serum bilirubin levels > or =342 microM and

Colin A. Mckenzie - One of the best experts on this subject based on the ideXlab platform.

  • a cross sectional clinic based study exploring whether variants within the glutathione s transferase haptoglobin and uridine 5 diphospho Glucuronosyltransferase 1A1 genes are associated with interindividual phenotypic variation in sickle cell anaemia
    European Journal of Haematology, 2018
    Co-Authors: Sharon Howell, Kwesi Marshall, Marvin Reid, Norma Mcfarlaneanderson, Colin A. Mckenzie
    Abstract:

    OBJECTIVES To explore putative associations between specific variants in either the glutathione S-transferase (GST), haptoglobin (HP) or uridine 5'-diphospho-Glucuronosyltransferase 1A1 (UGT1A1) genes and clinically important phenotypes in sickle cell anaemia (HbSS). METHODS 371 HbSS participants were recruited from the Sickle Cell Clinic of the Sickle Cell Unit at the University of the West Indies, Kingston, Jamaica. Markers within four GST superfamily genes, the HP gene and the UGT1A1 gene were analysed using PCR-based assays. RESULTS Multivariable regression revealed statistically significant associations between the GSTP1 Ile105Val heterozygote and HbA2 levels (P = .016), HbF percentage (P = .001), MCH concentration (P = .028) and reticulocyte count (P = .032), while the GSTM3 D/D homozygote was significantly associated with HbA2 levels (P = .032). The UGT1A1 (TA)6 /(TA)8 heterozygote showed statistically significant associations with HbA2 levels (P = .019), HbF percentage (P < .001), haemoglobin levels (P = .008), PCV values (P = .007) and RBC counts (P = .041). CONCLUSION This exploratory cross-sectional study has generated novel and informative genotype-phenotype estimates of association, but larger studies are needed to determine whether these specific variants within the GST, UGT1A1 and HP genes are related to interindividual phenotypic variability in HbSS.

  • A cross-sectional clinic-based study exploring whether variants within the glutathione S-transferase, haptoglobin and uridine 5'-diphospho-Glucuronosyltransferase 1A1 genes are associated with interindividual phenotypic variation in sickle cell anaem
    European journal of haematology, 2017
    Co-Authors: Sharon Howell, Kwesi Marshall, Marvin Reid, Norma Mcfarlane-anderson, Colin A. Mckenzie
    Abstract:

    OBJECTIVES To explore putative associations between specific variants in either the glutathione S-transferase (GST), haptoglobin (HP) or uridine 5'-diphospho-Glucuronosyltransferase 1A1 (UGT1A1) genes and clinically important phenotypes in sickle cell anaemia (HbSS). METHODS 371 HbSS participants were recruited from the Sickle Cell Clinic of the Sickle Cell Unit at the University of the West Indies, Kingston, Jamaica. Markers within four GST superfamily genes, the HP gene and the UGT1A1 gene were analysed using PCR-based assays. RESULTS Multivariable regression revealed statistically significant associations between the GSTP1 Ile105Val heterozygote and HbA2 levels (P = .016), HbF percentage (P = .001), MCH concentration (P = .028) and reticulocyte count (P = .032), while the GSTM3 D/D homozygote was significantly associated with HbA2 levels (P = .032). The UGT1A1 (TA)6 /(TA)8 heterozygote showed statistically significant associations with HbA2 levels (P = .019), HbF percentage (P 

Michael Kaplan - One of the best experts on this subject based on the ideXlab platform.

  • Association between neonatal hyperbilirubinemia and UDP-Glucuronosyltransferase 1A1 gene polymorphisms.
    Pediatrics international : official journal of the Japan Pediatric Society, 2013
    Co-Authors: Michael Kaplan, Cathy Hammerman
    Abstract:

    We read the meta-analysis by Long et al. in which the association between neonatal hyperbilirubinemia and UDPGlucuronosyltransferase (UGT) 1A1 gene polymorphisms was analyzed, with great interest. We were particularly surprised by the authors’ conclusion that UGT1A1 TATA promoter polymorphisms were not associated with an increased risk of neonatal hyperbilirubinemia in Asian subjects and that results from Caucasian populations were conflicting. Our surprise emanates from the non-inclusion in the meta-analysis of a study in which the interaction between glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and UGT1A1 (TA)6/(TA)7 heterozygosity or (TA)7/(TA)7 homozygosity led to a dramatic and significant increase in the incidence of neonatal hyperbilirubinemia. In that study, hyperbilirubinemia was defined as serum total bilirubin (STB) 15.0 mg/dL (257 mmol/L) during the first week of life. DNA from term neonates born to Sephardic Jewish mothers was analyzed for the UGT1A1 TATA promoter polymorphism and for the G-6-PD Mediterranean mutation. The variant (TA)7 promoter allele frequency was similar among G-6-PDdeficient (n = 131) and normal neonates (n = 240). Overall, 30 G-6-PD-deficient neonates (22.9%) developed hyperbilirubinemia versus 22 normal neonates (9.2%; P = 0.0005). Among those normal for G-6-PD, the UGT1A1 polymorphism had no significant effect on the incidence of hyperbilirubinemia (normal homozygotes, 9.9%; heterozygotes, 6.7%; variant homozygotes, 14.7%, NS). Furthermore, of those with the normal homozygous UGT1A1 promoter genotype ((TA)6/(TA)6), the incidence of hyperbilirubinemia was similar in G-6-PD-deficient neonates and controls (9.7% and 9.9%). Among the G-6-PD-deficient infants, however, between UGT1A1 promoter subgroups, the incidence of hyperbilirubinemia increased in a stepwise fashion and was greater in those with the heterozygous (31.6%; P = 0.006) or variant homozygous (50%; P = 0.003) UGT1A1 promoter genotype compared with normal homozygotes. Furthermore, among the G-6-PD-deficient neonates, within UGT1A1 promoter subgroups, those with the heterozygous or homozygous variant UGT1A1 promoter genotype had a higher incidence of hyperbilirubinemia than corresponding G-6-PD normal controls (heterozygotes: 31.6% vs. 6.7%, P < 0.0001; variant homozygotes: 50% vs. 14.7%, P = 0.02). Thus, neither G-6-PD deficiency alone nor the variant UGT1A1 gene promoter alone, increased the incidence of hyperbilirubinemia, but both in combination did. We would like to bring this gene interaction, which may serve as a paradigm of interaction of benign genetic polymorphisms in the causation of disease, to the attention of readers who may have received the wrong impression of the role of (TA)n promoter polymorphism in the pathogenesis of neonatal hyperbilirubinemia from the meta-anaylsis.

  • fatal kernicterus in a girl deficient in glucose 6 phosphate dehydrogenase a paradigm of synergistic heterozygosity
    The Journal of Pediatrics, 2009
    Co-Authors: Shmuel Zangen, Devorah Kidron, Terri Gelbart, Namita Roychowdhury, Xia Wang, Michael Kaplan
    Abstract:

    A 6-day-old female newborn, readmitted for extreme hyperbilirubinemia with bilirubin encephalopathy, died despite 2 double-volume exchange transfusions. On autopsy examination the basal ganglia and hippocampus were selectively stained deep yellow. The infant was heterozygous for both the glucose-6-phosphate dehydrogenase Mediterranean mutation and for the (TA) 6 /(TA) 7 promoter polymorphism for the gene encoding the bilirubin conjugating enzyme uridine diphosphate–Glucuronosyltransferase 1A1 ( UGT1A1*28 , associated with Gilbert syndrome). No additional mutations of the UGT1A1 were detected. Seemingly innocuous, heterozygotic mutations may interact synergistically to result in serious and even fatal outcomes.

  • (TA)n UDP-Glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates
    Pediatric Research, 2008
    Co-Authors: Michael Kaplan, Tina Slusher, Sunday Pam, Paul Renbaum, Dominic F. Essiet, Ephrat Levy-lahad, Cathy Hammerman
    Abstract:

    Nigerian neonates have a high incidence of bilirubin encephalopathy. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is prevalent in this population. (TA)7 promoter polymorphism in the gene encoding the bilirubin conjugating enzyme UDP-Glucuronosyltransferase 1A1 (UGT1A1) potentiates hyperbilirubinemia in G-6-PD deficient neonates. We studied (TA)n allele frequency to determine, at least in part, its contribution to the frequency and severity of hyperbilirubinemia. DNA was extracted from umbilical cord blood of sequentially born Nigerian neonates and the (TA)n UGT1A1 promoter sequence determined. The (TA)n allele distribution was compared with reported adults of varying African ancestry and Sephardic Jewish neonates. Among 88 Nigerian neonates, (TA)6 and (TA)7 alleles were almost equally distributed (0.46 and 0.43, respectively). Some individuals with (TA)5 and (TA)8 sequences were encountered. Allele distribution was similar to that of the African ancestry population but differed from the Sephardic Jewish newborns, in whom the (TA)6/(TA)7 distribution was 0.65/0.35. Whereas 45% of Nigerian alleles and 50% of African ancestry alleles, respectively, included a (TA)7 or (TA)8 sequence, only 35% of Jewish alleles were (TA)7 (p < 0.001), and no (TA)8 alleles were encountered. The high frequency of (TA)n promoter polymorphism, coupled with G-6-PD deficiency, may contribute to the pathogenesis of extreme neonatal hyperbilirubinemia in Nigeria.

  • hemolysis and bilirubin conjugation in association with udp Glucuronosyltransferase 1A1 promoter polymorphism
    Hepatology, 2002
    Co-Authors: Michael Kaplan, Paul Renbaum, Cathy Hammerman, Firmino F. Rubaltelli, Maria Teresa Vilei, Hendrik J. Vreman, David K. Stevenson, Ephrat Levylahad, Maurizio Muraca
    Abstract:

    Hemolysis may contribute to hyperbilirubinemia in Gilbert's syndrome. The authors examined blood carboxyhemoglobin corrected for inspired CO (COHbc) to index heme catabolism and serum conjugated bilirubin fractions to reflect bilirubin conjugation. Both parameters were related to UDP-Glucuronosyltransferase 1A1 (UGT) promoter polymorphism, associated with Gilbert's syndrome, in term male newborns. COHbc was expressed as percentage of total hemoglobin, and total conjugated bilirubin (TCB) value as a percentage of serum total bilirubin (STB), (TCB/STB[%]). A production/conjugation index, COHbc/(TCB/STB[%]), represented bilirubin production divided by conjugation. UGT promoter genotype was designated according to the number of promoter TA insertions in each allele: 6/6, homozygous normal; 6/7, heterozygous; 7/7, homozygous variant. STB and COHbc values were higher in the 7/7 subgroup than the other counterparts (P < .01). The COHbc/(TCB/STB[%]) was higher in the 7/7 than either the 6/6 or 6/7 subsets (1.93 [1.31-2.88] vs. 0.85 [0.51-1.72] and 0.84 [0.53-1.87], respectively; P < .01). In conclusion, 7/7 UGT promoter polymorphism was associated with increased blood COHbc values (unexpected finding) as well as diminished serum total conjugated bilirubin ratios (expected finding). The increased hemolysis may contribute to the pathogenesis of increased STB values seen in Gilbert's syndrome, and exacerbate neonatal hyperbilirubinemia associated with the promoter polymorphism. (HEPATOLOGY 2002;35:905-911.)

  • Hemolysis and bilirubin conjugation in association with UDP‐Glucuronosyltransferase 1A1 promoter polymorphism
    Hepatology (Baltimore Md.), 2002
    Co-Authors: Michael Kaplan, Paul Renbaum, Cathy Hammerman, Ephrat Levy-lahad, Firmino F. Rubaltelli, Maria Teresa Vilei, Hendrik J. Vreman, David K. Stevenson, Maurizio Muraca
    Abstract:

    Hemolysis may contribute to hyperbilirubinemia in Gilbert's syndrome. The authors examined blood carboxyhemoglobin corrected for inspired CO (COHbc) to index heme catabolism and serum conjugated bilirubin fractions to reflect bilirubin conjugation. Both parameters were related to UDP-Glucuronosyltransferase 1A1 (UGT) promoter polymorphism, associated with Gilbert's syndrome, in term male newborns. COHbc was expressed as percentage of total hemoglobin, and total conjugated bilirubin (TCB) value as a percentage of serum total bilirubin (STB), (TCB/STB[%]). A production/conjugation index, COHbc/(TCB/STB[%]), represented bilirubin production divided by conjugation. UGT promoter genotype was designated according to the number of promoter TA insertions in each allele: 6/6, homozygous normal; 6/7, heterozygous; 7/7, homozygous variant. STB and COHbc values were higher in the 7/7 subgroup than the other counterparts (P < .01). The COHbc/(TCB/STB[%]) was higher in the 7/7 than either the 6/6 or 6/7 subsets (1.93 [1.31-2.88] vs. 0.85 [0.51-1.72] and 0.84 [0.53-1.87], respectively; P < .01). In conclusion, 7/7 UGT promoter polymorphism was associated with increased blood COHbc values (unexpected finding) as well as diminished serum total conjugated bilirubin ratios (expected finding). The increased hemolysis may contribute to the pathogenesis of increased STB values seen in Gilbert's syndrome, and exacerbate neonatal hyperbilirubinemia associated with the promoter polymorphism. (HEPATOLOGY 2002;35:905-911.)

May-jen Huang - One of the best experts on this subject based on the ideXlab platform.

  • Effect of UDP-Glucuronosyltransferase 1A1 activity on risk for developing Gilbert's syndrome.
    The Kaohsiung journal of medical sciences, 2019
    Co-Authors: May-jen Huang, Yi-chun Chen, Yang-yang Huang, Sien‐sing Yang, Pei-lain Chen, Ching‐shan Huang
    Abstract:

    Variations at the six nucleotides -3279 (T > G), -53 (A[TA]6 TAA > A[TA]7 TAA), 211 (G > A), 686 (C > A), 1091 (C > T), and 1456 (T > G) in the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene were determined in 178 Taiwanese patients with Gilbert's syndrome and in 200 healthy adults. Every subject was classified as a genotype depending on variation status of the six nucleotides in the UGT1A1 gene. The UGT1A1 activity for each genotype was calculated and then those genotypes were divided into 10 subgroups (Q1~Q10) according to their UGT1A1 activities, by using 10% as an interval. There were 24 genotypes observed, with UGT1A1 activity ranged 9%~100% of normal. There were two and six subjects with Gilbert's syndrome and none of healthy controls carrying genotypes in the Q1 and Q2 subgroups, respectively. The odds of developing Gilbert's syndrome were significantly higher for subjects carrying genotypes in the Q3, Q4, and Q5 subgroups than for those with genotype in the Q10 subgroup (odds ratios: 240.22, 59.80, and 14.67, respectively, P 

  • effect of udp Glucuronosyltransferase 1A1 activity on risk for developing gilbert s syndrome
    Kaohsiung Journal of Medical Sciences, 2019
    Co-Authors: May-jen Huang, Yi-chun Chen, Yang-yang Huang, Pei-lain Chen, Siensing Yang, Ching Shan Huang
    Abstract:

    Variations at the six nucleotides -3279 (T > G), -53 (A[TA]6 TAA > A[TA]7 TAA), 211 (G > A), 686 (C > A), 1091 (C > T), and 1456 (T > G) in the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene were determined in 178 Taiwanese patients with Gilbert's syndrome and in 200 healthy adults. Every subject was classified as a genotype depending on variation status of the six nucleotides in the UGT1A1 gene. The UGT1A1 activity for each genotype was calculated and then those genotypes were divided into 10 subgroups (Q1~Q10) according to their UGT1A1 activities, by using 10% as an interval. There were 24 genotypes observed, with UGT1A1 activity ranged 9%~100% of normal. There were two and six subjects with Gilbert's syndrome and none of healthy controls carrying genotypes in the Q1 and Q2 subgroups, respectively. The odds of developing Gilbert's syndrome were significantly higher for subjects carrying genotypes in the Q3, Q4, and Q5 subgroups than for those with genotype in the Q10 subgroup (odds ratios: 240.22, 59.80, and 14.67, respectively, P < .001 for each). Among the 178 patients of Gilbert's syndrome, serum bilirubin value was inversely correlated with UGT1A1 activity (r = -.306, P < .001). The sensitivity was 72.0% and the specificity was 90.5% by using UGT1A1 activity ≦40% of normal as the cut-off point to distinguish between healthy subjects and patients of Gilbert's syndrome. Our results demonstrate that UGT1A1 activity is certainly a determinate for serum bilirubin value and UGT1A1 activity ≦40% of normal is a proper risk factor for the development of Gilbert's syndrome.

  • Effects of variant UDP-Glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis.
    World journal of gastroenterology, 2005
    Co-Authors: Yang-yang Huang, May-jen Huang, Siensing Yang, Ching-shui Huang, Min-shung Lin, Ching Shan Huang
    Abstract:

    AIM: To test the hypothesis that the variant UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of cholelithiasis. METHODS: A total of 372 Taiwan Chinese with cholelithiasis who had undergone cholecystectomy and 293 healthy individuals were divided into case and control groups, respectively. PCR and restriction fragment length polymorphism were used to analyze the promoter area and nucleotides 211, 686, 1 091, and 1 456 of the UGT1A1 gene for all subjects and the gene variants for thalassemia and G6PD deficiency. RESULTS: Variation frequencies for the cholelithiasis patients were 16.1%, 25.8%, 5.4%, and 4.3% for A(TA)6 TAA/A(TA)7TAA (6/7), heterozygosity within the coding region, compound heterozygosity, and homozygosity of the UGT1A1 gene, respectively. Comparing the case and control groups, a statistically significant difference in frequency was demonstrated for the homozygous variation of the UGT1A1 gene (P = 0.012, χ2 test), but not for the other variations. Further, no difference was demonstrated in a between-group comparison of the incidence of G6PD deficiency and thalassemia (2.7% vs 2.4% and 5.1% vs 5.1%, respectively). The bilirubin levels for the cholelithiasis patients with the homozygous variant-UGT1A1 gene were significantly different from the control analog (18.0 ± 6.5 and 12.7 ± 2.9 μmol/L, respectively; P

  • effects of variant udp Glucuronosyltransferase 1A1 gene glucose 6 phosphate dehydrogenase deficiency and thalassemia on cholelithiasis
    World Journal of Gastroenterology, 2005
    Co-Authors: Yang-yang Huang, May-jen Huang, Siensing Yang, Ching-shui Huang, Min-shung Lin, Ching Shan Huang
    Abstract:

    AIM: To test the hypothesis that the variant UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of cholelithiasis. METHODS: A total of 372 Taiwan Chinese with cholelithiasis who had undergone cholecystectomy and 293 healthy individuals were divided into case and control groups, respectively. PCR and restriction fragment length polymorphism were used to analyze the promoter area and nucleotides 211, 686, 1 091, and 1 456 of the UGT1A1 gene for all subjects and the gene variants for thalassemia and G6PD deficiency. RESULTS: Variation frequencies for the cholelithiasis patients were 16.1%, 25.8%, 5.4%, and 4.3% for A(TA)6 TAA/A(TA)7TAA (6/7), heterozygosity within the coding region, compound heterozygosity, and homozygosity of the UGT1A1 gene, respectively. Comparing the case and control groups, a statistically significant difference in frequency was demonstrated for the homozygous variation of the UGT1A1 gene (P = 0.012, χ2 test), but not for the other variations. Further, no difference was demonstrated in a between-group comparison of the incidence of G6PD deficiency and thalassemia (2.7% vs 2.4% and 5.1% vs 5.1%, respectively). The bilirubin levels for the cholelithiasis patients with the homozygous variant-UGT1A1 gene were significantly different from the control analog (18.0 ± 6.5 and 12.7 ± 2.9 μmol/L, respectively; P<0.001, Student’s t test). CONCLUSION: Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese.

  • Genetic factors related to unconjugated hyperbilirubinemia amongst adults.
    Pharmacogenetics and genomics, 2005
    Co-Authors: Ching Shan Huang, Hsiu Chen Teng, May-jen Huang, Siensing Yang, Min-shung Lin, Kung Sheng Tang
    Abstract:

    Some variations in the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene are involved in the development of unconjugated hyperbilirubinemia. We hypothesize that other genetic factors may also be associated with this disease. A total of 227 adults with normal routine haematology and liver function (apart

Udom Chantharaksri - One of the best experts on this subject based on the ideXlab platform.

  • association between promoter and coding region mutations of udp Glucuronosyltransferase 1A1 and β thalassemia hb e with cholelithiasis
    European Journal of Haematology, 2008
    Co-Authors: Jeeranut Tankanitlert, Noppawan Phumala Morales, Pranee Fucharoen, Suthat Fucharoen, Udom Chantharaksri
    Abstract:

    Background and objectives:  Cholelithiasis has been observed with high incidence in beta-thalassemia/hemoglobin E (β-thal/Hb E). Recent studies have shown that a variant TATA-box in the promoter region of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene is associated with the development of cholelithiasis. The coding region mutation (G71R) of the UGT1A1 gene was higher in Asians than those in Caucasians. The relationship between the variant UGT1A1 promoter and coding region gene and cholelithiasis in β-thal/Hb E subjects were investigated. Methods:  One hundred and seventeen β-thal/Hb E subjects entered this study. The TATA-box and G71R mutations were analyzed by fragment size analysis and restriction fragment length polymorphism methods, respectively. Results:  The incidence of cholelithiasis was higher in heterozygous (68.3%) and homozygous (100%) subjects compared with normal UGT1A1 haplotype (61.4%). Total bilirubin level (6.0 ± 2.03 mg/dL) in the homozygous group was significantly higher than that of wild type (3.31 ± 1.83 ng/dL). Prevalence of cholelithiasis increased with age (OR = 1.1, 95% CI = 1.03–1.12, P < 0.001). Female gender (OR = 3.7, 95% CI = 1.3–10.6, P < 0.01) and elevated liver enzyme (OR = 1.02, 95%CI = 1.0–1.04, P < 0.02) were two other risk factors for cholethiasis in β-thal/Hb E. Conclusion:  This study shows that the combined TATA-box variants and G71R mutations of the UGT1A1 is associated with cholelithiasis in β-thal/Hb E.

  • Association between promoter and coding region mutations of UDP-Glucuronosyltransferase 1A1 and β-thalassemia/Hb E with cholelithiasis
    European journal of haematology, 2007
    Co-Authors: Jeeranut Tankanitlert, Noppawan Phumala Morales, Pranee Fucharoen, Suthat Fucharoen, Udom Chantharaksri
    Abstract:

    Background and objectives:  Cholelithiasis has been observed with high incidence in beta-thalassemia/hemoglobin E (β-thal/Hb E). Recent studies have shown that a variant TATA-box in the promoter region of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) gene is associated with the development of cholelithiasis. The coding region mutation (G71R) of the UGT1A1 gene was higher in Asians than those in Caucasians. The relationship between the variant UGT1A1 promoter and coding region gene and cholelithiasis in β-thal/Hb E subjects were investigated. Methods:  One hundred and seventeen β-thal/Hb E subjects entered this study. The TATA-box and G71R mutations were analyzed by fragment size analysis and restriction fragment length polymorphism methods, respectively. Results:  The incidence of cholelithiasis was higher in heterozygous (68.3%) and homozygous (100%) subjects compared with normal UGT1A1 haplotype (61.4%). Total bilirubin level (6.0 ± 2.03 mg/dL) in the homozygous group was significantly higher than that of wild type (3.31 ± 1.83 ng/dL). Prevalence of cholelithiasis increased with age (OR = 1.1, 95% CI = 1.03–1.12, P