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Genotype association of IP6K3 gene with Hashimoto’s thyroiditis in Algerian population (Aures region)
Egyptian Journal of Medical Human Genetics Pub Date : 2020-11-27 , DOI: 10.1186/s43042-020-00086-0
Warda Kherrour , Dean Kalicanin , Luka Brčić , Leila Hambaba , Mouloud Yahia , Souheyla Benbia , Vesna Boraska Perica

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. There 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). This 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.

中文翻译:

IP6K3基因与阿尔及利亚人群(Aures地区)桥本甲状腺炎的基因型关联

桥本甲状腺炎(HT)是甲状腺的一种慢性自身免疫性疾病,也是甲状腺功能减退症的主要原因。最近的一项全基因组关联研究 (GWAS) 表明,在白种人(克罗地亚)人群中,三种新的遗传变异与 HT 相关。进行了一项病例对照研究,以调查这三种新提出的遗传变异与非白种人种族群体(来自阿尔及利亚的阿拉伯柏柏尔人)中 HT 的关联。使用实时 PCR 对三个变体(rs12944194 位于 SDK2 中的 206 kb、IP6K3 中的 rs791903 和 GNA14 中的 rs75201096)进行基因分型。HT 病例和对照之间的三种遗传变异的等位基因频率没有显着差异。然而,本研究显示 HT 患者和对照组之间 rs791903(IP6K3 基因)的基因型分布具有名义意义(P = 0.024);我们观察到与对照组相比,HT 病例中 rs791903 隐性纯合子 (CC) 的频率降低(OR = 0.476,P = 0.025)。这是第一项显示 IP6K3 内含子变异与非高加索人、阿尔及利亚人 HT 风险降低的基因型关联的研究,而我们没有证实 SDK2 和 GNA14 遗传变异与 HT 的关联。IP6K3 基因(六磷酸肌醇激酶 3)位于主要组织相容性复合体 (MHC) 附近,此前曾与除 HT 之外的其他常见自身免疫性疾病有关,如格雷夫斯病和类风湿性关节炎,
更新日期:2020-11-27
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