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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Genotype association of IP6K3 gene with Hashimoto's thyroiditis in Algerian population (Aures region)
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Genotype association of IP6K3 gene with Hashimoto's thyroiditis in Algerian population (Aures region)

机译：IP6K3基因与阿尔及利亚人群甲状腺炎的基因型协会（AURE区域）

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Background:Hashimoto’s thyroiditis (HT) is a chronic autoimmune disease of the thyroid gland and is also the main cause of hypothyroidism. A recent genome-wide association study (GWAS) suggested an association of three novel genetic variants with HT in a population of Caucasian origin (Croatian). A case-control study was performed to investigate the association of these three newly suggested genetic variants with HT in a non-Caucasian ethnic group, an Arab-Berber from Algeria.Three variants (rs12944194 located 206?kb from SDK2, rs791903 inside IP6K3, and rs75201096 inside GNA14) were genotyped using real-time PCR.ResultsThere were no significant differences in allele frequencies of the three genetic variants between HT cases and controls. However, the present study showed nominal significance in the genotype distribution of rs791903 (IP6K3 gene) between HT patients and the control group (P = 0.024); we observed a decrease in the frequency of rs791903 recessive homozygotes (CC) in HT cases versus controls (OR = 0.476, P = 0.025).ConclusionThis is the first study that showed the genotypic association of IP6K3 intronic variant with decreased risk for HT in non-Caucasian, Algerian, population, whereas we did not confirm the association of SDK2 and GNA14 genetic variants with HT. The IP6K3 gene (inositol hexaphosphate kinase 3), located near major histocompatibility complex (MHC), has previously been associated with other common autoimmune diseases beside HT, such as Graves’s disease and rheumatoid arthritis, which is providing more evidence of a good candidacy for the genetic contribution to the development of HT and autoimmunity.
机译：背景：Hashimoto的甲状腺炎（HT）是甲状腺的慢性自身免疫性疾病，也是甲状腺功能亢进的主要原因。最近的全基因组协会研究（GWAS）表明三种新型遗传变异与高加索人口群中的三种新型遗传变异协会（克罗地亚语）。进行病例对照研究以研究来自阿尔及利亚阿拉伯人的非白种人族裔的HT与HT中这三种新建议的遗传变异的关联。从阿尔及利亚的阿拉伯人（Rs12944194，位于 SDK2的rs12944194）（Rs12944194） I>，RS791903内部 IP6K3 和RS75201096中，使用实时PCR基因分型进行基因分型。方法在HT病例之间的三种遗传变异的等位基因频率没有显着差异和控制。然而，本研究表明，在HT患者和对照组之间的基因型分布（ P = 0.024）之间的基因型分布中显示出标称意义（ = 0.024）;我们观察到HT病例与对照（或= 0.476， P = 0.025）中的RS791903隐性纯合蛋白（CC）的频率降低IP6K3 内肾内变异，在非白种人，阿尔及利亚，人口中降低HT的风险，而我们没有确认 SDK2 和 GNA14 遗传变体与HT的关联。位于主要组织相容性络合物（MHC）附近的 IP6K3 基因（肌醇六磷酸激酶3）先前已经与HT旁边的其他常见的自身免疫疾病相关，例如Graves的疾病和类风湿性关节炎，这提供了更多对HT和自身免疫发展的遗传贡献的良好候选人的证据。

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