Association of Interleukin 17F with Arthritis in Punjabi Families of Pakistan

A. Parveen, A. Batool, M. Mukhtar, A. Wajid, N. Malkani
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Abstract

Arthritis is a chronic inflammatory disease that causes severe joint pain. Interleukin 17F (IL17F) is considered as a candidate gene functionally; it mediates pro-inflammatory responses, depending on the type and site of inflammation. The present study examined the polymorphism of IL17F (rs763780 and rs2397084) among the families affected by arthritis. Demographic data and blood samples were collected from the families with at least one affected offspring with arthritis. Analysis of the IL17F gene polymorphism was performed by the digestion of DNA with NlaIII and AvaII. The results showed that IL17F rs763780 (AA, AG and GG genotypes) and rs2397084 (AA, AG and GG genotypes) were associated with arthritis (OA & RA). It was evaluated that about 65 and 21 percent of the individuals mutated with homozygous mutation for wild type allele A, heterozygous mutation A/G against selected SNPs respectively. But homozygous polymorphic allele for allele G was only found against rs2397084. Mutation in rs2397084 resulted to change Lysine into Arginine, whereas mutation in rs763780 changed Histidine into Arginine. Maternal history was found as a stronger factor in transferring arthritis. The results of this study revealed an association of arthritis with IL17F among Pakistani population.
白介素17F与巴基斯坦旁遮普家庭关节炎的关系
关节炎是一种慢性炎症性疾病,会引起严重的关节疼痛。白细胞介素17F (IL17F)被认为是功能上的候选基因;它根据炎症的类型和部位介导促炎反应。本研究检测了关节炎家族中IL17F (rs763780和rs2397084)的多态性。人口统计数据和血液样本来自至少有一个患病后代患有关节炎的家庭。用NlaIII和AvaII酶切DNA,分析IL17F基因多态性。结果显示,IL17F rs763780 (AA、AG和GG基因型)和rs2397084 (AA、AG和GG基因型)与关节炎(OA和RA)相关。结果表明,65%和21%的个体分别产生野生型等位基因A纯合突变和杂合突变A/G。而等位基因G的纯合多态性等位基因仅在rs2397084上发现。rs2397084突变使赖氨酸变为精氨酸,而rs763780突变使组氨酸变为精氨酸。母亲病史是关节炎转移的重要因素。本研究结果揭示了巴基斯坦人群中关节炎与IL17F的关系。
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