Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.
Lupus. 2012 Apr;21(5):502-7. doi: 10.1177/0961203311430702. Epub 2012 Jan 11.
The aim of this study was to evaluate the association of single nucleotide polymorphisms (SNPs) in the C1qA gene region with systemic lupus erythematosus (SLE) in a Chinese Han population.
Chinese SLE patients (n = 748) and ethnically- and geographically-matched healthy controls (n = 750) were genotyped for the C1qA region SNPs, rs172378 and rs665691, by using the Sequenom MassArray system.
The Chinese Han SLE patients and controls had statistically similar frequencies of alleles, genotypes, and haplotypes of C1qA polymorphisms. Moreover, no association signal was detected on different genetic models (additive, dominant, and recessive) or in SLE subgroups stratified by various clinical manifestations.
The C1qA SNPs, rs172378 and rs665691, confer no genetic predisposition to SLE in a Chinese Han population.
本研究旨在评估 C1qA 基因区域内的单核苷酸多态性（SNPs）与中国汉族人群系统性红斑狼疮（SLE）之间的关联。
采用 Sequenom MassArray 系统，对 748 例中国汉族 SLE 患者和 750 名种族和地理匹配的健康对照者进行 C1qA 区域 SNPs（rs172378 和 rs665691）的基因分型。
中国汉族 SLE 患者和对照组的 C1qA 多态性等位基因、基因型和单倍型频率具有统计学上的相似性。此外，在不同的遗传模型（加性、显性和隐性）或根据不同临床表现分层的 SLE 亚组中，均未检测到关联信号。
在中国汉族人群中，C1qA SNPs（rs172378 和 rs665691）对 SLE 没有遗传易感性。
