Association of the genetic polymorphisms of the ACE gene and the eNOSgene with lupus nephropathy in northern Chinese population

BMC Medical Genetics

Research Article

H Lian¹  R Guo¹  J An²  X Jin²  Z Jin³  F Lu⁴  X Li⁵  Y Zhao⁵  Y Zhao⁶  Y Li⁷  P Liu⁸ 

[1] Chinese medical hospital of Weihai city, 264200, Weihai, P.R. China;Department of Pathology, Harbin Medical University, 150081, Harbin, P.R. China;Department of Pathology, Mudanjiang Medical University, 157011, Mudanjiang, P.R. China;Department of Rheumatology, the First affiliated hospital of Baotou Medical College, 014010, Baotou, P.R. China;Department of Rheumatology, the Second Affiliated Hospital of Harbin Medical University, 150081, Harbin, P.R. China;Department of laboratory Diagnosis, the First Affiliated Hospital of Harbin Medical University, 150001, Harbin, P.R. China;Heilongjiang University of Chinese Medicine, 150040, Harbin, P.R. China;Laboratory of Medical Genetics, Harbin Medical University, 150081, Harbin, P.R. China;

关键词: Systemic Lupus Erythematosus;    Nitric Oxide Synthases;    Angiotensin Converting Enzyme;    Systemic Lupus Erythematosus Patient;    eNOS Gene;   

DOI  :  10.1186/1471-2350-11-94

 received in 2010-02-19, accepted in 2010-06-14,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundIt has been reported that some single nucleotide polymorphisms (SNPs) of the angiotensin converting enzyme (ACE) gene and the endothelial nitric oxide synthase (eNOS) gene are associated with the development of systemic lupus erythematosus (SLE) and the progression of nephropathy. The aim of this study was to evaluate the possible association between six SNPs (A-5466C, T-3892C, A-240T, C1237T, G2215A and A2350G) of the ACE gene and two SNPs (T-786C and G894T) of the eNOS gene with lupus nephropathy in a northern Chinese population.MethodsIn this study, 225 patients with lupus nephropathy were compared to 232 healthy controls, matched by gender, age and ethnicity. Following the extraction of genomic DNA from the leukocytes in the peripheral blood, the genotypes of the eight selected SNPs were determined by the method of PCR-RFLP; the haplotypes were inferred using PHASE 2.1. The associations between the SNPs and the risk of lupus nephropathy were analyzed using Chi-square test and Logistic regression with SPSS13.0 software.ResultsStatistically significant differences of the allele frequency distribution of three SNPs (A-5466C, A2350G and G894T) were observed between cases and controls (P < 0.05). Among the 53 haplotypes identified, the frequencies of five haplotypes (CTTCGA, ACTTAA, ACATGG, ACACGG and ATTCGA) were significantly different between cases and controls (P < 0.05).ConclusionsOur study indicated an association between the risk of lupus nephropathy and the sequence variations of both the ACE gene and the eNOS gene, which may play an important role in the pathogenesis of lupus nephropathy in the northern Chinese population. Further studies are warranted to validate our findings.

【 授权许可】

Unknown   
© Li et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.