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Yuan Shao - One of the best experts on this subject based on the ideXlab platform.
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IL1A il1b genetic polymorphisms are risk factors for thyroid cancer in a chinese han population
International Immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Abstract Introduction Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Materials and methods Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Results Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p 48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Conclusions Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population.
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IL1A & IL1B genetic polymorphisms are risk factors for thyroid cancer in a Chinese Han population.
International immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p < 0.05). IL1A rs3783546 and rs3783521 were associated with an increased cancer risk in men, and IL1B rs3136558 and rs1143623 were associated with an decreased cancer risk in women. Meanwhile, rs3783550, rs3783546, rs1609682, and rs3783521 in IL1A were identified as biomarkers of risk among individuals aged ≤48 years. Rs3136558 and rs1143623 in the IL1B gene showed strong correlations with a susceptibility to thyroid cancer among individuals aged >48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population. Copyright © 2019 Elsevier B.V. All rights reserved.
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IL1A & IL1B genetic polymorphisms are risk factors for thyroid cancer in a Chinese Han population.
International immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Abstract Introduction Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Materials and methods Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Results Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p 48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Conclusions Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population.
Na Duan - One of the best experts on this subject based on the ideXlab platform.
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IL1A il1b genetic polymorphisms are risk factors for thyroid cancer in a chinese han population
International Immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Abstract Introduction Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Materials and methods Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Results Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p 48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Conclusions Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population.
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IL1A & IL1B genetic polymorphisms are risk factors for thyroid cancer in a Chinese Han population.
International immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p < 0.05). IL1A rs3783546 and rs3783521 were associated with an increased cancer risk in men, and IL1B rs3136558 and rs1143623 were associated with an decreased cancer risk in women. Meanwhile, rs3783550, rs3783546, rs1609682, and rs3783521 in IL1A were identified as biomarkers of risk among individuals aged ≤48 years. Rs3136558 and rs1143623 in the IL1B gene showed strong correlations with a susceptibility to thyroid cancer among individuals aged >48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population. Copyright © 2019 Elsevier B.V. All rights reserved.
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IL1A & IL1B genetic polymorphisms are risk factors for thyroid cancer in a Chinese Han population.
International immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Abstract Introduction Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Materials and methods Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Results Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p 48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Conclusions Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population.
Miguel Ángel Calleja-hernández - One of the best experts on this subject based on the ideXlab platform.
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Cytokine single-nucleotide polymorphisms and risk of non-small-cell lung cancer
Pharmacogenetics and Genomics, 2017Co-Authors: Cristina Pérez-ramírez, Marisa Cañadas-garre, Ahmed Alnatsha, María José Faus-dáder, Javier Valdivia-bautista, Eduardo Villar, Miguel Ángel Calleja-hernándezAbstract:ObjectiveLung cancer, particularly the non-small-cell lung cancer (NSCLC) subtype, is the leading cause of cancer-related death worldwide. Several functional polymorphisms in inflammatory cytokine genes, such as IL1B, IL6, IL12A, IL13 and IL16, have been associated with the risk of NSCLC. The aim of
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Interleukins as new prognostic genetic biomarkers in non-small cell lung cancer
Surgical Oncology-oxford, 2017Co-Authors: Cristina Pérez-ramírez, Marisa Cañadas-garre, Ahmed Alnatsha, Miguel Ángel Molina, Juan Ramón Delgado, María José Faus-dáder, Eduardo Villar, Ana I Robles, Miguel Ángel Calleja-hernándezAbstract:Abstract Background Surgery is the standard treatment for early-stage NSCLC, and platinum-based chemotherapy remains as the treatment of choice for advanced-stage NSCLC patients with naive EGFR status. However, overall 5-years relative survival rates are low. Interleukins (ILs) are crucial for processes associated with tumor development. In NSCLC, IL1B, IL6, IL12A, IL13 and IL16 gene polymorphisms may contribute to individual variation in terms of patient survival. The purpose of this study was to evaluate the association between IL gene polymorphisms and survival in NSCLC patients. Methods A prospective cohorts study was performed, including 170 NSCLC patients (114 Stage IIIB-IV, 56 Stage I-IIIA). IL1B (C > T; rs1143634), IL1B (C > T; rs12621220), IL1B (C > G; rs1143623), IL1B (A > G; rs16944), IL1B (C > T; rs1143627), IL6 (C > G; rs1800795), IL12A (C > T; rs662959), IL13 (A > C; rs1881457) and IL16 (G > T; rs7170924) gene polymorphisms were analyzed by PCR Real-Time. Results Patients with IL16 rs7170924-GG genotype were in higher risk of death (p = 0.0139; HR = 1.82; CI 95% = 1.13–2.94) Furthermore, carriers of the TT genotype for IL12A rs662959 presented higher risk of progression in the non-resected NSCLC patient subgroup (p = 0.0412; HR = 4.49; CI 95% = 1.06–18.99). The rest of polymorphisms showed no effect of on outcomes. Conclusions Our results suggest that IL16 rs7170924-GG and IL12A rs662959-TT genotypes predict higher risk of death and progression, respectively, in NSCLC patients. No influence of IL1B rs12621220, IL1B rs1143623, IL1B rs16944, IL1B rs1143627, IL6 rs1800795, IL13 rs1881457 on NSCLC clinical outcomes was found in our patients.
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Interleukins as new prognostic genetic biomarkers in non-small cell lung cancer
Surgical Oncology-oxford, 2017Co-Authors: Cristina Pérez-ramírez, Marisa Cañadas-garre, Ahmed Alnatsha, Miguel Ángel Molina, Juan Ramón Delgado, María José Faus-dáder, Eduardo Villar, Ana I Robles, Miguel Ángel Calleja-hernándezAbstract:Abstract Background Surgery is the standard treatment for early-stage NSCLC, and platinum-based chemotherapy remains as the treatment of choice for advanced-stage NSCLC patients with naive EGFR status. However, overall 5-years relative survival rates are low. Interleukins (ILs) are crucial for processes associated with tumor development. In NSCLC, IL1B, IL6, IL12A, IL13 and IL16 gene polymorphisms may contribute to individual variation in terms of patient survival. The purpose of this study was to evaluate the association between IL gene polymorphisms and survival in NSCLC patients. Methods A prospective cohorts study was performed, including 170 NSCLC patients (114 Stage IIIB-IV, 56 Stage I-IIIA). IL1B (C > T; rs1143634), IL1B (C > T; rs12621220), IL1B (C > G; rs1143623), IL1B (A > G; rs16944), IL1B (C > T; rs1143627), IL6 (C > G; rs1800795), IL12A (C > T; rs662959), IL13 (A > C; rs1881457) and IL16 (G > T; rs7170924) gene polymorphisms were analyzed by PCR Real-Time. Results Patients with IL16 rs7170924-GG genotype were in higher risk of death (p = 0.0139; HR = 1.82; CI 95% = 1.13–2.94) Furthermore, carriers of the TT genotype for IL12A rs662959 presented higher risk of progression in the non-resected NSCLC patient subgroup (p = 0.0412; HR = 4.49; CI 95% = 1.06–18.99). The rest of polymorphisms showed no effect of on outcomes. Conclusions Our results suggest that IL16 rs7170924-GG and IL12A rs662959-TT genotypes predict higher risk of death and progression, respectively, in NSCLC patients. No influence of IL1B rs12621220, IL1B rs1143623, IL1B rs16944, IL1B rs1143627, IL6 rs1800795, IL13 rs1881457 on NSCLC clinical outcomes was found in our patients.
Qing Zhang - One of the best experts on this subject based on the ideXlab platform.
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IL1A il1b genetic polymorphisms are risk factors for thyroid cancer in a chinese han population
International Immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Abstract Introduction Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Materials and methods Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Results Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p 48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Conclusions Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population.
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IL1A & IL1B genetic polymorphisms are risk factors for thyroid cancer in a Chinese Han population.
International immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p < 0.05). IL1A rs3783546 and rs3783521 were associated with an increased cancer risk in men, and IL1B rs3136558 and rs1143623 were associated with an decreased cancer risk in women. Meanwhile, rs3783550, rs3783546, rs1609682, and rs3783521 in IL1A were identified as biomarkers of risk among individuals aged ≤48 years. Rs3136558 and rs1143623 in the IL1B gene showed strong correlations with a susceptibility to thyroid cancer among individuals aged >48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population. Copyright © 2019 Elsevier B.V. All rights reserved.
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IL1A & IL1B genetic polymorphisms are risk factors for thyroid cancer in a Chinese Han population.
International immunopharmacology, 2019Co-Authors: Na Duan, Qing Zhang, Yuan ShaoAbstract:Abstract Introduction Thyroid carcinoma accounts for a large proportion of endocrine neoplasia, and the relationship between inflammation and thyroid cancer has been previously validated. IL-1α (Interleukin 1 alpha) and IL-1β (Interleukin 1 beta), encoded by IL1A and IL1B, respectively, are implicated in numerous inflammatory responses and in tumor progression. The objective of this research was to assess the association of genetic polymorphisms of IL1A and IL1B with the risk of thyroid cancer in a Chinese Han population. Materials and methods Genotypes of the 12 candidate SNPs in IL1A and IL1B were identified among 208 thyroid cancer patients and 279 healthy controls using an Agena MassARRY method. Genetic model analysis was carried out to evaluate the significant links between the variants and thyroid cancer risk. HaploReg v4.1 and the GTEx database were used for SNP functional annotation and expression quantitative trait loci (eQTL) analysis, respectively. Results Significant associations were detected between IL1A rs3783521 and an increased thyroid cancer risk in our study population (p 48 years. Additionally, bioinformatics and eQTLs analysis also provided supporting evidence for the effects of the SNPs on gene regulation. Conclusions Our study is the first to report that IL1A and IL1B polymorphisms are risk factors for thyroid carcinoma in a Chinese Han population.
Aldo Scarpa - One of the best experts on this subject based on the ideXlab platform.
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interleukin 1b il1b and interleukin 6 il6 gene polymorphisms are associated with risk of chronic lymphocytic leukaemia
Hematological Oncology, 2008Co-Authors: M. G. Ennas, Patrick S Moore, Mariagrazia Zucca, Emanuele Angelucci, Maria Giuseppina Cabras, Massimo Melis, Attilio Gabbas, Roberto Serpe, Clelia Madeddu, Aldo ScarpaAbstract:Common polymorphisms in genes encoding for cytokines implicated in the inflammatory response and Th1/Th2 balance might play a role in the development and prognosis of chronic lymphocytic leukaemia (CLL). To test the hypothesis, we investigated 13 single nucleotide polymorphisms (SNPs) in nine of such genes in a population-based case-control study, conducted in the Italian region of Sardinia in 1999–2003. Forty incident CLL cases and 113 population controls were available for study. The following SNPs were selected: IL1A-889C > T, IL1RN 9589A > T, IL1B-31C > T, IL1B-511C > T, IL2-384T > G, IL6-174G > C, IL6-597G > A, IL10-1082A > G, IL10-3575T > A, TNF-308G > A, LTA- 91A > C, LTA 252A > G and CARD15 nt1007. After adjusting by age and gender, individuals homozygous for the IL1B-511T allele run a lower risk of CLL (OR = 0.1, 95% CI 0.0, 0.8, p = 0.032), while risk showed a 4.5-fold increase associated with the genotype homozygous for the IL6-174C allele (OR = 4.5; 95% CI 1.1, 19.3, p = 0.041). Individuals homozygous for the IL6-174C allele and carrying the homozygous IL1B-511C allele showed an 11-fold increase in CLL risk (OR = 11.4, 95% CI 1.9, 69.4, p = 0.008). None of the other interleukin SNPs evaluated showed any association with CLL risk. Large multicentre pooled studies are warranted, achieving the statistical power required to confirm whether IL6 and IL1B gene polymorphisms might play a role in CLL development and prognosis, as well as the null associations herein reported. Copyright © 2008 John Wiley & Sons, Ltd.
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Interleukin-1B (IL1B) and interleukin-6 (IL6) gene polymorphisms are associated with risk of chronic lymphocytic leukaemia.
Hematological oncology, 2008Co-Authors: M. G. Ennas, Patrick S Moore, Mariagrazia Zucca, Emanuele Angelucci, Maria Giuseppina Cabras, Massimo Melis, Attilio Gabbas, Roberto Serpe, Clelia Madeddu, Aldo ScarpaAbstract:Common polymorphisms in genes encoding for cytokines implicated in the inflammatory response and Th1/Th2 balance might play a role in the development and prognosis of chronic lymphocytic leukaemia (CLL). To test the hypothesis, we investigated 13 single nucleotide polymorphisms (SNPs) in nine of such genes in a population-based case-control study, conducted in the Italian region of Sardinia in 1999-2003. Forty incident CLL cases and 113 population controls were available for study. The following SNPs were selected: IL1A-889C > T, IL1RN 9589A > T, IL1B-31C > T, IL1B-511C > T, IL2-384T > G, IL6-174G > C, IL6-597G > A, IL10-1082A > G, IL10-3575T > A, TNF-308G > A, LTA- 91A > C, LTA 252A > G and CARD15 nt1007. After adjusting by age and gender, individuals homozygous for the IL1B-511T allele run a lower risk of CLL (OR = 0.1, 95% CI 0.0, 0.8, p = 0.032), while risk showed a 4.5-fold increase associated with the genotype homozygous for the IL6-174C allele (OR = 4.5; 95% CI 1.1, 19.3, p = 0.041). Individuals homozygous for the IL6-174C allele and carrying the homozygous IL1B-511C allele showed an 11-fold increase in CLL risk (OR = 11.4, 95% CI 1.9, 69.4, p = 0.008). None of the other interleukin SNPs evaluated showed any association with CLL risk. Large multicentre pooled studies are warranted, achieving the statistical power required to confirm whether IL6 and IL1B gene polymorphisms might play a role in CLL development and prognosis, as well as the null associations herein reported.
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association of polymorphisms in the il1b and il2 genes with susceptibility and severity of systemic sclerosis
The Journal of Rheumatology, 2007Co-Authors: Silvia Mattuzzi, Stefano Barbi, A Carletto, Viviana Ravagnani, Patrick S Moore, Lisa Maria Bambara, Aldo ScarpaAbstract:OBJECTIVE: To investigate possible associations of 9 single-nucleotide polymorphisms in the IL10, IL1B, IL1A, IL1RN, IL2, LTA, and IL6 genes with susceptibility to systemic sclerosis (SSc), and with clinical subtype of SSc patients. METHODS: A total of 78 patients with SSc [diffuse SSc (dcSSc), n = 31; limited SSc, (lcSSc), n = 47] and 692 healthy blood donors were genotyped for the following polymorphisms: IL10 T-3575A, IL10 A-1082G, IL1B C-31T, IL1B C-511T, IL1A C-889T, IL1RN A9589T, IL2 T-384G, LTA T-91G, and IL6 G-174C. RESULTS: Alleles in IL1B-31 and IL1B-511 showed a significantly different distribution between cases and controls. Carriers of at least one copy of the IL1B-31-C allele had an increased risk of SSc [odds ratio (OR) 2.8, 95% confidence interval (CI) 1.6-5.2, p
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Association of polymorphisms in the IL1B and IL2 genes with susceptibility and severity of systemic sclerosis
The Journal of rheumatology, 2007Co-Authors: Silvia Mattuzzi, Stefano Barbi, A Carletto, Viviana Ravagnani, Patrick S Moore, Lisa Maria Bambara, Aldo ScarpaAbstract:To investigate possible associations of 9 single-nucleotide polymorphisms in the IL10, IL1B, IL1A, IL1RN, IL2, LTA, and IL6 genes with susceptibility to systemic sclerosis (SSc), and with clinical subtype of SSc patients. A total of 78 patients with SSc [diffuse SSc (dcSSc), n = 31; limited SSc, (lcSSc), n = 47] and 692 healthy blood donors were genotyped for the following polymorphisms: IL10 T-3575A, IL10 A-1082G, IL1B C-31T, IL1B C-511T, IL1A C-889T, IL1RN A9589T, IL2 T-384G, LTA T-91G, and IL6 G-174C. Alleles in IL1B-31 and IL1B-511 showed a significantly different distribution between cases and controls. Carriers of at least one copy of the IL1B-31-C allele had an increased risk of SSc [odds ratio (OR) 2.8, 95% confidence interval (CI) 1.6-5.2, p < 0.001], while a similar strong association was also evident for IL1B-511-T carriers (OR 3.1, 95% CI 1.7-5.7, p < 0.001). Interestingly, carriers of the IL2-384-G allele were significantly more frequent among patients with lcSSc (80.8%), compared to patients with the diffuse subtype (45.1%) (OR 5.1, 95% CI 1.8-14.3, p = 0.001) and in subjects positive to anticentromere antibodies (OR 4.2, 95% CI 1.5-11.9, p = 0.007). Lastly, the distribution of the IL2-384 genotype showed statistically significant differences between controls and patients with lcSSc (OR 3.5, 95% CI 1.7-7.4, p < 0.001). There were no differences between patients with dcSSc and controls. IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc. Moreover, the IL2-384-G allele may be a marker for the limited phenotype of SSc.
