Comparison of the role of HHIP SNPs in susceptibility to chronic obstructive pulmonary disease between Chinese Han and Mongolian populations

Abstract The contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. This study aimed to investigate the role of single nucleotide polymorphisms (SNPs) in HHIP on COPD susceptibility in the Chinese Mongolian and Han populations from Inner Mongolia autonomous region. In this case-control study, five SNPs in HHIP gene were detected in 700 COPD patients (350 Chinese Han and 350 Chinese Mongolian) and 700 healthy controls (350 Chinese Han and 350 Chinese Mongolian). The genotype, the association with COPD, and the differences between Chinese Han and Mongolian populations were evaluated using the chi-squared (χ 2 ) test, genetic models, and logistic analysis. The minor allele C in SNP rs10519717 was associated with COPD in Mongolian (Odds ration (OR) = 1.401, 95% confidence interval (CI): 1.110–1.769, P  = 0.044); however, not in the Han. The CC genotype in SNP rs10519717 was a risk factor for COPD in Mongolian (OR = 2.667, 95% CI: 1.479 – 4.809, P  = 0.044); however, the TC genotype in Han played the same role (OR = 1.396, 95% CI: 1.018–1.915, P  = 0.044). The GG genotype in SNP rs13147758 was protective in the Han (OR = 0.546, 95% CI: 0.332–0.897, P  = 0.017). The homozygote of the minor alleles in SNPs rs12504628, rs1828591, and rs13118928 had a protective role in the both of COPD populations. For the minor allele distribution, the differences between the Han and Mongolian were presented only in the case group for rs12504628 ( P  = 0.003), rs13147758 ( P  = 0.002), rs1828591 ( P  = 0.001), and rs13118928 ( P  = 0.002); for the genotypes, differences was presented at the frequency of the minor allele homozygote in rs13147758 ( P  = 0.048), rs10519717 ( P  = 0.027), rs1828591 ( P  = 0.041), and rs13118928 ( P  = 0.044) in Mongolian. Our findings suggested that HHIP rs10519717 might be associated with susceptibility of Mongolian COPD. For the other SNPs, the differences between the two populations were represented by minor allele distribution and frequency of the minor allele homozygotes.