酸性磷酸酶基因座 1*C 等位基因与系统性红斑狼疮的新关联。

Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus.

机构信息

Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, 18100 Armilla, Granada, Spain.

出版信息

Hum Immunol. 2012 Jan;73(1):107-10. doi: 10.1016/j.humimm.2011.10.012. Epub 2011 Oct 21.

DOI:10.1016/j.humimm.2011.10.012

PMID:22064183

Abstract

The red cell acid phosphatase (ACP1) gene, which encodes a low-molecular-weight phosphotyrosine phosphatase, has been suggested as a common genetic factor of autoimmunity. In the present study, we aim to investigate the possible association of ACP1 with the susceptibility of systemic lupus erythematosus (SLE). A total of 1,546 SLE patients and 1,947 healthy individuals from 4 Caucasians populations were included in the present study. Four single-nucleotide polymorphisms (SNPs) were genotyped in this study: rs10167992, rs11553742, rs7576247, and rs3828329. ACP1A, ACP1B, and ACP1C codominant ACP1 alleles were determined using 2 of the SNPs and analyzed. After the meta-analysis test was performed, a significant association of rs11553742T was observed (p(pooled) = 0.005, odds ratios = 1.37 [1.10-1.70]), retaining significance after multiple testing was applied (p(FDR) = 0.019). Our data indicate for first time the association of rs11553742*T with increased susceptibility in SLE patients.

摘要

红细胞酸性磷酸酶 (ACP1) 基因，编码一种低分子量磷酸酪氨酸磷酸酶，被认为是自身免疫的常见遗传因素。本研究旨在探讨 ACP1 与系统性红斑狼疮 (SLE) 易感性的可能相关性。本研究共纳入了来自 4 个人种群体的 1546 名 SLE 患者和 1947 名健康个体。本研究共检测了 4 个单核苷酸多态性 (SNP)：rs10167992、rs11553742、rs7576247 和 rs3828329。使用其中 2 个 SNP 确定了 ACP1A、ACP1B 和 ACP1C 共显性 ACP1 等位基因，并进行了分析。进行荟萃分析测试后，观察到 rs11553742T 存在显著相关性（p(pooled) = 0.005，优势比 = 1.37 [1.10-1.70]），在应用多重检验后仍具有显著性（p(FDR) = 0.019）。我们的数据首次表明 rs11553742*T 与 SLE 患者易感性增加相关。