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BMC Medical Genetics

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Open Access 01-12-2017 | Research article

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

Authors: Xinze Cai, Wenyue Huang, Xudong Liu, Lining Wang, Yi Jiang

Published in: BMC Medical Genetics | Issue 1/2017

Abstract

Background

This 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.

Methods

We 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.

Results

The 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.

Conclusion

Our findings identified three novel associations in SNPs located in the TMEM39A gene associated with SLE susceptibility in a Chinese Han population.

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Title: Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population
Authors: Xinze Cai
Wenyue Huang
Xudong Liu
Lining Wang
Yi Jiang
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2017
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-017-0405-8

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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