Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population

BMC Medical Genetics

Research Article

Xudong Liu¹  Xinze Cai¹  Wenyue Huang¹  Yi Jiang²  Lining Wang³ 

[1] Central Laboratory, First Affiliated Hospital of China Medical University, Nanjingbei Street, Heping District, 110001, Shenyang, China;Central Laboratory; Department of Dermatology, First Affiliated Hospital of China Medical University, Nanjingbei Street, Heping District, 110001, Shenyang, China;Department of Nephrology, First Affiliated Hospital of China Medical University, Nanjingbei Street, Heping District, 110001, Shenyang, China;

关键词: Single nucleotide polymorphism;    Systemic lupus erythematosus;    Susceptibility;   

DOI  :  10.1186/s12881-017-0405-8

 received in 2016-07-20, accepted in 2017-04-13,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundThis study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample.MethodsWe carried out a case-control study of 415 patients with SLE and 470 healthy controls without autoimmune disease or cancer. DNA for genetic analysis was isolated from the blood of all subjects using standard phenol-chloroform method. TagSNPs were identified using genotype data from the panel (Han Chinese in Beijing) of the HapMap Project and were selected using the Haploview program. Genotyping assay was conducted using the Sequenom MassARRAY iPLEX Gold platform. The frequencies of the alleles and genotypes were calculated and analyzed. Association studies and haplotype analysis were also performed.ResultsThe genotypic frequencies of rs12493175 and rs13062955 were significantly different between the SLE patients and the healthy controls. Compared with the common homozygous genotype, the CT and CT + TT genotypes in rs12493175 and the AC and AC + AA genotypes in rs13062955 was observed to significantly reduce the risk of SLE. The haplotype analysis of TMEM39A polymorphisms showed that the CGTA haplotype frequency was significantly low in the SLE patients.ConclusionOur findings identified three novel associations in SNPs located in the TMEM39A gene associated with SLE susceptibility in a Chinese Han population.

【 授权许可】

CC BY   
© The Author(s). 2017