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Seven newly identified loci for autoimmune thyroid disease

机译:七个新发现的自身免疫性甲状腺疾病基因座

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摘要

Autoimmune thyroid disease (AITD), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), is one of the most common of the immune-mediated diseases. To further investigate the genetic determinants of AITD, we conducted an association study using a custom-made single-nucleotide polymorphism (SNP) array, the ImmunoChip. The SNP array contains all known and genotype-able SNPs across 186 distinct susceptibility loci associated with one or more immune-mediated diseases. After stringent quality control, we analysed 103 875 common SNPs (minor allele frequency 0.05) in 2285 GD and 462 HT patients and 9364 controls. We found evidence for seven new AITD risk loci (P 1.12 × 10−6; a permutation test derived significance threshold), five at locations previously associated and two at locations awaiting confirmation, with other immune-mediated diseases.
机译:自身免疫性甲状腺疾病(AITD),包括格雷夫斯病(GD)和桥本氏甲状腺炎(HT),是免疫介导的最常见疾病之一。为了进一步研究AITD的遗传决定因素,我们使用定制的单核苷酸多态性(SNP)阵列ImmunoChip进行了关联研究。 SNP阵列包含与186种不同的与一种或多种免疫介导的疾病相关的易感基因座的所有已知基因型和可进行基因分型的SNP。经过严格的质量控制后,我们分析了2285例GD和462例HT患者和9364例对照的103 875个常见SNP(次要等位基因频率> 0.05)。我们发现了七个新的AITD风险基因座(P <1.12×10 −6 ;置换检验得出的显着性阈值)的证据,五个在以前相关的位置,两个在等待确认的位置,其他免疫介导疾病。

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