Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population.
Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population.
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中国汉族人群增殖诱导配体、精子发生相关8、血小板衍生生长因子受体α、POLB多态性与系统性红斑狼疮的关联研究
DOI：
10.4103/0366-6999.189055
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发表时间：
2016-09-05
影响因子：
6.1
通讯作者：
Li YZ
中科院分区：
文献类型：
--
作者：
Li P;Li Y;Zhou AH;Chen S;Li J;Wen XT;Wu ZY;Li LB;Zhang FC;Li YZ
系统性红斑狼疮（SLE）是一种典型的自身免疫性疾病，具有复杂的遗传规律。本研究旨在检测增殖诱导配体（APRIL）、精子发生相关蛋白8（SPATA 8）、血小板源性生长因子受体-α（PDGFRA）和DNA聚合酶β（POLB）与SLE的相关性是否可以在中国汉族人群中复制。使用Sequenom MassARRAY系统对中国SLE患者（n = 1247）和种族和地理位置匹配的健康对照（n = 1440）进行APRIL、SPATA 8、PDGFRA和POLB单核苷酸多态性（SNP）rs3803800、rs 8023715、rs 1364989和rs 12678588的基因分型。中国汉族SLE患者和对照组4种基因多态性的等位基因频率和基因型频率均无统计学差异。此外，在不同的遗传模型（加性、显性和隐性，所有，P > 0.05）或按各种临床表现分层的SLE亚组中未检测到相关信号（所有，P > 0.05）。不同家系、不同人群的遗传背景可能导致SLE的遗传危险因素不同。我们没有检测到与APRIL、SPATA 8、PDGFRA和POLB的SNP有任何显著关联。
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. This study was conducted to examine whether the association of a proliferation-inducing ligand (APRIL), spermatogenesis associated 8 (SPATA8), platelet-derived growth factor receptor-alpha (PDGFRA), and DNA polymerase beta (POLB) with SLE can be replicated in a Chinese Han population. Chinese SLE patients (n = 1247) and ethnically and geographically matched healthy controls (n = 1440) were genotyped for the APRIL, SPATA8, PDGFRA, and POLB single-nucleotide polymorphisms (SNPs), rs3803800, rs8023715, rs1364989, and rs12678588 using the Sequenom MassARRAY System. The Chinese Han SLE patients and controls had statistically similar frequencies of alleles and genotypes of four gene polymorphisms. Moreover, no association signal was detected on different genetic models (additive, dominant, and recessive, all, P > 0.05) or in SLE subgroups stratified by various clinical manifestations (all, P > 0.05). Different genetic backgrounds from different ancestries and various populations may result in different genetic risk factors for SLE. We did not detect any significant association with SNPs of APRIL, SPATA8, PDGFRA, and POLB.