Cell and Molecular Biology Lab, Institute of Zoology, University of the Punjab, Lahore, Pakistan.
Rhumatology Domain, Center of Molecular Medicine, Karolinska Institute, Department of Medicine, Stockholm, Sweden.
Genet Res (Camb). 2022 Sep 20;2022:9208765. doi: 10.1155/2022/9208765. eCollection 2022.
Arthritis is a genetic disorder characterized by bones and joint degradation assisted by severe pain and inflammation. It is evident by the studies that 0 candidate genes variations play vital role in its development and progression. Therefore, we investigated the genetic variation of , , and genes in the Pakistani population. A case-control study comprising 300 RA, 316 OA, and 412 control subjects was conducted. PCR-RFLP and direct sequencing methods were used for determining genetic variations. Analysis was performed by using PLINK and MEGA 6.0 software. Allelic and genetic frequencies of polymorphisms identified on rs3764879 (), rs3764880 (), rs5744080 (), rs1800629 (), rs2228480 (), and rs1451501590 () were significantly varied among RA, OA, and controls. Novel functional mutations SCV000844945 and SCV000844946 on as well as a non-functional SCV000804801 and functional variation SCV000804802 on were also identified and reported for the first time in the studied population. Multiple site analyses indicated that polymorphisms on and genes were significant risk factors in disease onset to the next generation. In conclusion, and were significant in the onset of arthritis whereas the was not found as a significant risk factor in the onset of RA and OA.
关节炎是一种遗传疾病,其特征是骨骼和关节退化,伴有严重的疼痛和炎症。研究表明,0 个候选基因变异在其发展和进展中起着至关重要的作用。因此,我们研究了巴基斯坦人群中 、 、 和 基因的遗传变异。一项包括 300 名 RA、316 名 OA 和 412 名对照的病例对照研究进行了。PCR-RFLP 和直接测序方法用于确定遗传变异。使用 PLINK 和 MEGA 6.0 软件进行分析。rs3764879()、rs3764880()、rs5744080()、rs1800629()、rs2228480()和 rs1451501590()上鉴定的多态性的等位基因和遗传频率在 RA、OA 和对照之间存在显著差异。还首次在研究人群中鉴定并报道了 上的新功能突变 SCV000844945 和 SCV000844946 以及非功能 SCV000804801 和功能变异 SCV000804802。多部位分析表明,基因和 上的多态性是疾病向下一代发病的重要危险因素。总之,和 基因在关节炎发病中起重要作用,而 基因在 RA 和 OA 发病中不是一个重要的危险因素。