Cargando…

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

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 patien...

Descripción completa

Detalles Bibliográficos
Autores principales: Cai, Xinze, Huang, Wenyue, Liu, Xudong, Wang, Lining, Jiang, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399404/
https://www.ncbi.nlm.nih.gov/pubmed/28427360
http://dx.doi.org/10.1186/s12881-017-0405-8
_version_ 1783230639221243904
author Cai, Xinze
Huang, Wenyue
Liu, Xudong
Wang, Lining
Jiang, Yi
author_facet Cai, Xinze
Huang, Wenyue
Liu, Xudong
Wang, Lining
Jiang, Yi
author_sort Cai, Xinze
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5399404
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-53994042017-04-24 Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population Cai, Xinze Huang, Wenyue Liu, Xudong Wang, Lining Jiang, Yi BMC Med Genet Research Article 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. BioMed Central 2017-04-20 /pmc/articles/PMC5399404/ /pubmed/28427360 http://dx.doi.org/10.1186/s12881-017-0405-8 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Cai, Xinze
Huang, Wenyue
Liu, Xudong
Wang, Lining
Jiang, Yi
Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population
title Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population
title_full Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population
title_fullStr Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population
title_full_unstemmed Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population
title_short Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population
title_sort association of novel polymorphisms in tmem39a gene with systemic lupus erythematosus in a chinese han population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399404/
https://www.ncbi.nlm.nih.gov/pubmed/28427360
http://dx.doi.org/10.1186/s12881-017-0405-8
work_keys_str_mv AT caixinze associationofnovelpolymorphismsintmem39agenewithsystemiclupuserythematosusinachinesehanpopulation
AT huangwenyue associationofnovelpolymorphismsintmem39agenewithsystemiclupuserythematosusinachinesehanpopulation
AT liuxudong associationofnovelpolymorphismsintmem39agenewithsystemiclupuserythematosusinachinesehanpopulation
AT wanglining associationofnovelpolymorphismsintmem39agenewithsystemiclupuserythematosusinachinesehanpopulation
AT jiangyi associationofnovelpolymorphismsintmem39agenewithsystemiclupuserythematosusinachinesehanpopulation