Genetics of autoimmune thyroid disease in the Lebanese population

Farra, Chantal; Awwad, Johnny; Fadlallah, Ali; Sebaly, G.; Hage, Georges; Souaid, Mirna; Ashkar, Hanine; Medlej, R; Gannageh, M. H.; Halaby, Georges

doi:10.1007/s12687-012-0085-1

Cited by 12 publications

(8 citation statements)

References 39 publications

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“…Our meta-analysis, including 2295 patients with HT and 4521 controls, investigated the association of A49G polymorphism with HT in all studies and in ethnicity and age subgroups from the 24 studies. We included 11 novel case-control studies (Balbi et al, 2007;Dallos et al, 2008;Yesilkaya et al, 2008;Yu et al, 2008;Bicek et al, 2009;Kucharska et al, 2009;Sahin et al, 2009;Shi et al, 2010;Benhatchi et al, 2011;Yang et al, 2012;Farra et al, 2012). Furthermore, we excluded studies when the genotype distribution in controls was not in HWE (Shi et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

“…Based on our search strategy, the primary screening produced 33 potentially relevant articles, of which 24 studies met the inclusion criteria after evaluating the association of the A49G polymorphism with HT [Donner et al, 1997;Awata et al, 1998;Kouki et al, 2000;Park et al, 2000;Petrone et al, 2001;Wang et al, 2001;Tomoyose et al, 2002;Terauchi et al, 2003;Ueda et al, 2003;Zhou et al, 2003;Balbi et al, 2007;Kavvoura et al, 2007 (a meta-analysis, which included 3 unpublished studies: Ban et al; Akazumi et al; Ghaderi et al); Dallos et al, 2008;Yesilkaya et al, 2008;Yu et al, 2008;Bicek et al, 2009;Kucharska et al, 2009;Sahin et al, 2009;Shi et al, 2010;Benhatchi et al, 2011;Yang et al, 2012;Farra et al, 2012]. In total, 2165 HT patients and 4284 controls were examined.…”

Section: Study Inclusion and Characteristicsmentioning

confidence: 99%

“…In total, 2165 HT patients and 4284 controls were examined. Of these 24 articles, 17 were published in English (Donner et al, 1997;Awata et al, 1998;Kouki et al, 2000;Petrone et al, 2001;Tomoyose et al, 2002;Terauchi et al, 2003;Ueda et al, 2003;Balbi et al, 2007;Kavvoura et al, 2007;Dallos et al, 2008;Yesilkaya et al, 2008;Bicek et al, 2009;Kucharska et al, 2009;Sahin et al, 2009;Benhatchi et al, 2011;Yang et al, 2012;Farra et al, 2012), and 4 were in Chinese (Wang et al, 2001;Zhou et al, 2003;Yu et al, 2008;Shi et al, 2010). Three unpublished articles contained results of a study by Kavvoura et al (2007).…”

Section: Study Inclusion and Characteristicsmentioning

confidence: 99%

“…Of the 24 case-controls studies examining the association between the CTLA-4 A49G polymorphism and HT risk, 11 included East Asians [Awata et al, 1998;Park et al, 2000;Wang et al, 2001;Tomoyose et al, 2002;Terauchi et al, 2003;Zhou et al, 2003;Kavvoura et al, 2007 (a metaanalysis, which included 2 unpublished studies: Ban et al and Ghaderi et al); Yu et al, 2008;Shi et al, 2010;Yang et al, 2012]; 9 included whites (Donner et al, 1997;Kouki et al, 2000;Petrone et al, 2001;Ueda et al, 2003;Balbi et al, 2007;Dallos et al, 2008;Bicek et al, 2009;Kucharska et al, 2009;Benhatchi et al, 2011); 4 included the Middle Easterners: two studies that included Turks (Yesilkaya et al, 2008;Sahin et al, 2009), one that included Iranians (Kavvoura et al, 2007), and one that included Lebanese (Farra et al, 2012). Twenty-one studies were performed in adults, whereas 3 were in children (Dallos et al, 2008;Yesilkaya et al, 2008;Kucharska et al, 2009).…”

Section: Study Inclusion and Characteristicsmentioning

confidence: 99%

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Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphism and Hashimoto's thyroiditis risk

Ji¹,

Feng²,

Zhan³

2013

Genet. Mol. Res.

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ABSTRACT. Published data on the association between the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphism and the risk for Hashimoto's thyroiditis (HT) are inconclusive. A meta-analysis was performed to derive a more precise estimation. Published casecontrol studies in English or Chinese were identified. In total, 24 studies with 2295 cases and 4521 controls were investigated. A random-effect model was performed irrespective of between-study heterogeneity. Study quality was assessed in duplicate, and subgroup analyses were conducted by ethnicity or age. Overall, the 49G allele was associated with an increase in HT risk [odds ratio (OR) = 1.31; 95% confidence interval (95%CI) = 1.17-1.47; P < 0.00001]. In a subgroup analysis by ethnicity, comparison of allele 49G with 49A generated a 27% increased risk among East Asians (OR = 1.48; 95%CI = 1.24-1.76; P < 0.00001) and whites (OR = 1.27; 95%CI = 1.12-1.44; P = 0.0002). We also found an increased risk among adults (OR = 1.31; 95%CI = 1.17-1.47; P < 0.00001) but not among children (OR = 1.44; 95%CI = 0.75-2.79; P = 0.27), possibly owing to the small sample sizes in children. No publication biases were observed. This meta-analysis suggested that the cytotoxic T-lymphocyte-associated antigen-4 gene 49G allele was associated with an increased HT risk, especially in adults.

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Section: Discussionmentioning

confidence: 99%

Section: Study Inclusion and Characteristicsmentioning

confidence: 99%

Section: Study Inclusion and Characteristicsmentioning

confidence: 99%

Section: Study Inclusion and Characteristicsmentioning

confidence: 99%

See 2 more Smart Citations

Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphism and Hashimoto's thyroiditis risk

Ji¹,

Feng²,

Zhan³

2013

Genet. Mol. Res.

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“…For instance, the +49A/G polymorphism in exon 1 results in a threonine-to-alanine conversion, which Gu et al showed to be associated with GD in the Chinese Han population [5]. By contrast, others found that the +49A/G polymorphism in exon 1 was irrelevant in the Japanese, Brazil and Lebanese populations [4, 6, 7]. Linkage analysis, candidate gene analysis and GWAS unanimously confirmed that the CD40–1 C/T polymorphism located at 20q11.2-20q13 was stably associated with GD susceptibility [8–10].…”

Section: Introductionmentioning

confidence: 99%

Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population

Chen

Liu

et al. 2018

BMC Med Genet

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BackgroundSingle-nucleotide polymorphism (SNP) haplotype and SNP-SNP interactions of CTLA-4 and CD40 genes, with susceptibility to Graves’ disease (GD), were explored in a Chinese Han population.MethodsSNP were genotyped by high resolution melting (HRM). Use the method of Pearson χ2 test and Logistic regression for the association between single SNP and Graves’ disease. Using the method of χ2 test and Multifactor Dimensionality Reduction (MDR) to analysis the haplotype frequency distribution, the interaction of SNPs respectively.ResultsGenotypic and allelic frequencies of SNP rs231775, rs3087243 and rs1883832 were statistically different between controls and GD (p < 0.05). Mutant allelic frequency of G rs231775 was higher, and A and T allelic frequencies of rs3087243 and rs1883832 were lower in GD than in controls (P < 0.05). In CTLA-4 rs1024161, rs5742909, rs231775, rs231777, rs231779, rs3087243 and rs11571319 showed D’ < 50% and r2 < 0.3 among each SNP. We identified six commonly found haplotypes; TCGCTGC was associated with the highest GD risk (OR = 2.565) and TCACTAC the lowest (OR = 0.096). MDR analysis indicated interactions among the rs231775 GG, rs231779 TT and rs3087243 GG genotypes in CTLA-4 might increase GD risk by 2.53-fold (OR = 2.53).ConclusionCTLA-4 and CD40 were associated with GD incidence in a Chinese Han population. The TCGCTGC and TCACTAC haplotypes in the CTLA-4 gene, were risk and protective factors for Graves’disease respectively. Interactions among the SNPs of rs231775, rs231779 and rs3087243 significantly increase the susceptibility to GD.

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Association of Hashimoto’s thyroiditis with cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) and inducible co-stimulator (ICOS) genes in a Kuwaiti population

et al. 2012

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Analysing two CTLA-4 markers [exon 1 A49G single nucleotide polymorphism (SNP) and exon 4 3'UTR (AT)n repeat] and the ICOS intron 4 (GT)n marker for their potential association with HT, and exploring the effect of the tested SNPs on the CTLA-4 isoform expression at the mRNA and protein levels. Total of 270 age-gender-ethnically matched subjects were genotyped by fluorescent-labelled restriction fragment length polymorphism, multiplex PCR, and fragment analysis. Sequencing was used to confirm the genotyping results. Expression of the full-length and soluble CTLA-4 mRNAs analysed using real-time PCR. Sera from subjects were screened for sCTLA-4 using ELISA. Tested subjects revealed ten alleles and sixteen genotypes of CTLA-4 3'UTR(AT)n. The 3'UTR(AT)n was significantly associated with HT: allele (AT)15 and genotype 15/15 were found to cause susceptibility to HT (P = 0.004, OR = 2.13, 95 % CI = 1.26-3.58 and P = 0.029, OR = 2.77, 95 % CI = 1.1-6.94, respectively), whereas allele (AT)6 and genotype 6/6 were found to be protective of HT (P = 0.00002, OR = 0.36, 95 % CI = 0.227-0.57 and P = 0.001, OR = 0.357, 95 % CI = 0.1980.64, respectively). SNP A49G and ICOS(GT)n revealed no significant association with HT (P > 0.05). The expression of sCTLA-4 was inversely proportional to the number of 3'UTR(AT)n repeats, with heterozygous and longer (AT)n repeats showing lower levels of sCTLA-4 mRNA than those with shorter alleles in HC and HT (P = 0.001 and P = 0.04, respectively). Significant increase in the serum level of sCTLA-4 was observed in HT patients compared with the HC (P = 0.0007). The novel finding in our study is that the CTLA-4 3'UTR(AT)n proven to be a key player in the pathogenesis of HT.

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Genetics of autoimmune thyroid disease in the Lebanese population

Cited by 12 publications

References 39 publications

Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphism and Hashimoto's thyroiditis risk

Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphism and Hashimoto's thyroiditis risk

Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves’ disease in a Chinese Han population

Association of Hashimoto’s thyroiditis with cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) and inducible co-stimulator (ICOS) genes in a Kuwaiti population

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