Mufti Ahmad H, AlJahdali Imad A, Elhawary Nasser A, Ekram Samar N, Abumansour Iman, Sindi Ikhlas A, Naffadi Hind, Elhawary Ezzeldin N, Alyamani Najiah M, Alghamdi Ghydda, Alosaimi Wafaa, Rawas Ghufran, Alharbi Amaal, Tayeb Mohammed T
Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, 21955, Saudi Arabia.
Department of Community Medicine, College of Medicine, Umm Al-Qura University, Mecca, 21955, Saudi Arabia.
Int J Gen Med. 2021 Dec 19;14:10031-10044. doi: 10.2147/IJGM.S341079. eCollection 2021.
The antigen processing 1 () and proteasome 20S subunit beta 9 () genes are associated with strong susceptibility to many autoimmune diseases. Here, we explored whether genetic variants, individually or combined, affected susceptibility to the complex, autoimmune-based skin disorder vitiligo.
Samples of genomic DNA from buccal cells of 172 patients with vitiligo and 129 healthy controls were analyzed using genotyping assays for the rs1135216 (A>G) and rs17587 (A>G) single nucleotide polymorphisms (SNPs). SNPStats software (https://www.snpstats.net) was utilized to choose the best interactive inheritance mode for selected SNPs.
The genotype frequencies for the rs1135216 and rs17587 SNPs were in Hardy-Weinberg equilibrium for cases (= 0.11 and = 0.10, respectively) but not for controls (< 0.05). The rs1135216 (D637G) and rs17587 (R60H) SNPs increased the risk of vitiligo four-fold and two-fold, respectively (odds ratio [OR]= 4.6; 95% confidence interval [CI], 3.2-6.5; < 0.0001 and OR= 2.2; 95% CI, 1.5-3.1; < 0.0001). The recessive model (G/G-D/G versus D/D) and the codominant model (R/R versus R/H) were the best models of inheritance for the rs113526 and rs17587 SNPs, respectively (OR= 16.4; 95% CI, 2.0-138; = 0.0006 and OR= 1.7; 95% CI, 0.3-1.8; = 0.013). Vulgaris, focal vulgaris, and acryl/acrofacial were the most common vitiligo subtypes in our sample (51%, 21%, and 19%, respectively). Heterozygous rs113526 (637D/G) and rs17587 (60R/H) were the most common genotypes in most vitiligo subtypes. The heterozygous 637D/G genotype and the 637G variant allele were significantly more common in patients with active disease than in patients with stable disease (= 0.000052 and = 0.0063, respectively).
Our findings suggest a crucial role for rs1135216 and rs17587 in the risk and progression of vitiligo in the Saudi community. Genomic analyses are needed to identify more candidate genes and more genetic variants associated with vitiligo.
抗原加工1（）和蛋白酶体20S亚基β9（）基因与多种自身免疫性疾病的易感性密切相关。在此，我们探讨了基因变异单独或联合起来是否会影响基于自身免疫的复杂性皮肤疾病白癜风的易感性。
使用针对rs1135216（A>G）和rs17587（A>G）单核苷酸多态性（SNP）的基因分型检测，对172例白癜风患者和129名健康对照者颊细胞的基因组DNA样本进行分析。利用SNPStats软件（https://www.snpstats.net）为选定的SNP选择最佳的交互遗传模式。
rs1135216和rs17587 SNP的基因型频率在病例组中处于哈迪-温伯格平衡（分别为=0.11和=0.10），但在对照组中并非如此（<0.05）。rs1135216（D637G）和rs17587（R60H）SNP分别使白癜风风险增加四倍和两倍（优势比[OR]=4.6；95%置信区间[CI]，3.2 - 6.5；<0.0001和OR=2.2；95%CI，1.5 - 3.1；<0.0001）。隐性模型（G/G - D/G对D/D）和共显性模型（R/R对R/H）分别是rs113526和rs17587 SNP的最佳遗传模式（OR=16.4；95%CI，2.0 - 138；=0.0006和OR=1.7；95%CI，0.3 - 1.8；=0.013）。寻常型、局限性寻常型和肢端/颜面型是我们样本中最常见的白癜风亚型（分别为51%、21%和19%）。杂合子rs113526（637D/G）和rs17587（60R/H）是大多数白癜风亚型中最常见基因型。杂合子637D/G基因型和6
