Daghestani Maha, Othman Nashwa, Omair Mohammed A, Alenzi Fahidah, Omair Maha A, Alqurtas Eman, Amin Shireen, Warsy Arjumand
Department of Zoology, College of Science, Center for Science and Medical Studies for Girls, King Saud University, Riyadh 11451, Saudi Arabia.
Central Laboratory, Center for Science and Medical Studies for Girls, King Saud University, Riyadh 11451, Saudi Arabia.
J Clin Med. 2023 Jul 27;12(15):4944. doi: 10.3390/jcm12154944.
Rheumatoid arthritis (RA) is a complex, multifactorial disorder with an autoimmune etiology. RA is highly heritable and is associated with both human leucocyte antigen (HLA) and non-HLA genes. We investigated the associations of 33 single nucleotide polymorphisms (SNPs) with RA in the Saudi population.
This study included 105 patients with RA and an equal number of age- and sex-matched controls. The patients with RA attended outpatient clinics at King Khalid University Hospital in Riyadh, Saudi Arabia. Blood samples were collected, and DNA was extracted using Qiagen kits. Primers were designed for the 33 selected SNPs using the MassEXTEND primers program, and samples were genotyped on the Sequenom MassARRAY iPLEX platform. The allele frequencies and genotypes were determined for each SNP, and the results obtained for the patients were compared to those for the controls.
The allele and genotype frequencies of six SNPs were significantly associated with RA: rs1188934, rs10919563, rs3087243, rs1980422, rs10499194, and rs629326. The minor alleles of rs1188934, rs10919563, rs10499194, and rs629326 were protective, with odds ratios of 0.542, 0.597, 0.589, and 0.625, and -values of 0.002, 0.023, 0.013 and 0.036, respectively. In addition, the heterozygote frequencies of two SNPs (rs6859219 and rs11586238) were significantly higher in the controls than in the patients.
There is considerable heterogeneity in the genetics of RA in different populations, and the SNPs that are associated with RA in some populations are not in others. We studied 33 SNPs and only eight were associated with RA. The remaining SNPs showed no allelic or genotypic associations with RA.
类风湿性关节炎（RA）是一种具有自身免疫病因的复杂多因素疾病。RA具有高度遗传性，与人类白细胞抗原（HLA）和非HLA基因均相关。我们在沙特人群中研究了33个单核苷酸多态性（SNP）与RA的关联。
本研究纳入了105例RA患者以及数量相等的年龄和性别匹配的对照。RA患者在沙特阿拉伯利雅得的哈立德国王大学医院门诊就诊。采集血样，使用Qiagen试剂盒提取DNA。使用MassEXTEND引物程序为所选的33个SNP设计引物，并在Sequenom MassARRAY iPLEX平台上对样本进行基因分型。确定每个SNP的等位基因频率和基因型，并将患者的结果与对照的结果进行比较。
六个SNP的等位基因和基因型频率与RA显著相关：rs1188934、rs10919563、rs3087243、rs1980422、rs10499194和rs629326。rs1188934、rs10919563、rs10499194和rs629326的次要等位基因具有保护作用，比值比分别为0.542、0.597、0.589和0.625，P值分别为0.002、0.023、0.013和0.036。此外，两个SNP（rs6859219和rs11586238）的杂合子频率在对照中显著高于患者。
不同人群中RA的遗传学存在相当大的异质性，在某些人群中与RA相关的SNP在其他人群中并非如此。我们研究了33个SNP，只有8个与RA相关。其余的SNP与RA没有等位基因或基因型关联。
