IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups
IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups
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DOI：
10.1016/j.humimm.2015.06.001
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发表时间：
2015-07-01
期刊：
影响因子：
2.7
通讯作者：
Ibrahim, Saleh M.
中科院分区：
文献类型：
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作者：
Elghzaly, Ashraf A.;Metwally, Shereen S.;Ibrahim, Saleh M.
目的：复制狼疮（IRF5 rs10488631、PTPN22 rs2476601、BLK rs2736340 和 TNFAIP3 rs5029939）和其他自身免疫性疾病（CD28 rs1980422、IL2R4 rs2104286 和KIF5A rs1678542）在新研究的埃及队列中进行，以调查不同研究种族与狼疮易感性相关的遗传差异。方法：通过 Taqman 实时 PCR 对选定的 SNP 对来自埃及三角洲的 170 名埃及 SLE 患者和 241 名匹配的健康对照进行基因分型。结果：结果显示与 IRF5 (p < 0.0001) 和 PTPN22 (p = 0.008），与 KIF5A、CD28、IL2RA、BLK 和 TNFAIP3 基因无关。结论：这项研究可能为 IRF5 和 PTPN22 与狼疮易感性之间的关联提供额外的证据，并可能排除 CD28、IL2RA 和 KIF5A 的关联。 (C) 2015 年美国组织相容性和免疫遗传学学会。由爱思唯尔公司出版。保留所有权利。
Objective: To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2R4 rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility.Methods: 170 Egyptian patients from Egypt Delta with SLE and 241 matched healthy controls were geno-typed by Taqman real time PCR for the selected SNPs.Results: The results revealed significant association with IRF5 (p < 0.0001) and PTPN22 (p = 0.008) and insignificant association with KIF5A, CD28, IL2RA, BLK and TNFAIP3 genes.Conclusions: This study may provide an additional evidence for the association between IRF5 and PTPN22 and lupus susceptibility and may exclude it for CD28, IL2RA, and KIF5A. (C) 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.