Lack of association between the polymorphisms of hypoxia-inducible factor 1A (HIF1A) gene and SLE susceptibility in a Chinese population

• Published in: Immunogenetics (New York) Vol. 66; no. 1; pp. 9 - 13
• Main Authors: Feng, Chen-Chen, Ye, Qian-Ling, Zhu, Yan, Leng, Rui-Xue, Chen, Gui-Mei, Yang, Jie, Cen, Han, Yang, Xiao-Ke, Li, Rui, Xu, Wang-Dong, Pan, Hai-Feng, Ye, Dong-Qing
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2014; Springer Nature B.V
• Subjects: Adult; Alleles; Allergology; Asian Continental Ancestry Group - genetics; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; Cell Biology; China - epidemiology; Disease; Female; Gene Frequency; Gene Function; Genetic Predisposition to Disease; Genomes; Haplotypes - genetics; Hospitals; Human Genetics; Humans; Hypoxia; Hypoxia-Inducible Factor 1, alpha Subunit - genetics; Immunology; Lupus; Lupus Erythematosus, Systemic - epidemiology; Lupus Erythematosus, Systemic - genetics; Male; Medical screening; Original Paper; Pathogenesis; Polymorphism, Single Nucleotide - genetics; Population; Rheumatology; Statistical analysis; Transcription factors; China; Hypoxia-inducible factor 1; Systemic lupus erythematosus; Polymorphisms; Susceptibility
• ISSN: 0093-7711; 1432-1211; 1432-1211
• DOI: 10.1007/s00251-013-0743-4

Hypoxia-inducible factor 1 (HIF-1) introduced the immune imbalance between Th17 and Treg cells, which may play an important role in the pathogenesis of systemic lupus erythematosus (SLE). The aim of the present study was to determine whether the HIF1A gene influences the susceptibility to SLE. A study on this relationship has not been conducted to date. A total of 3,793 subjects (1,497 SLE patients and 2,296 controls) were included in this study. The genotyping of five single-nucleotide polymorphisms (SNPs) (rs11549465, rs12434438, rs1957757, rs1951795, rs7143164) was determined by Sequenom MassARRAY technology. The statistical analysis was conducted using chi-square test. Odds ratio (OR) with 95 % confidence interval (CI) was calculated using unconditional logistic regression with adjustment of age and sex. The allele frequencies were not associated with the disease. No significant differences in genotype frequencies existed between the patients with SLE and the controls in all five SNPs. It is worth mentioning that the allele T at rs11549465, located at the exon sequence, revealed a trend but no significant difference towards the more frequent allele T in SLE than in controls (C versus T: OR = 1.206, 95 % CI = 0.972–1.495, p  = 0.088). The genotype effects of recessive, dominant, and codominant models were observed; however, no significant evidence for association was detected. Our findings suggest that the gene polymorphisms of HIF1A might not contribute to SLE susceptibility in the Chinese population. However, further studies are needed on an independent cohort from different genetic backgrounds to confirm HIF1A as an SLE genetic factor.