Association of SNPs of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of EH in the Chinese Han population

Objective:To study the association between SNP of the rs6435156 and rs1048829 loci of the BMPR2 gene, the rs121909287 and rs121909284 loci of the ACVRL1 gene, and the rs397514716 and rs121918359 loci of the SMAD9 gene with the risk of EH in the Chinese Han population. Method:460 EH patients and 460 healthy were included. Genomic DNA of white blood cells was extracted, and the genotypes were analyzed by Sanger sequencing after PCR amplification. Multi-factor dimensionality reduction (MDR) was used to analyze the effect of gene-environment interactions on EH risk. Results:The risk of EH increased in the BMPR2  gene rs6435156 locus dominant model and recessive model, the rs1048829 recessive model, the ACVRL1 gene rs121909287 locus, and the SMAD9  gene rs397514716 locus dominant model and recessive model. The CG haplotype of the rs6435156 and rs1048829 loci of the BMPR2 gene, the CC haplotype of the ACVRL1 gene rs121909287 and rs121909284 loci, and the CC haplotype of the rs397514716 and rs121918359 loci of the SMAD9 gene were factors that protect against EH, whereas the TT haplotype of the rs6435156 and rs1048829 loci in the BMPR2 gene was a risk factor for EH. MDR analysis showed that the BMPR2 gene rs6435156 locus TT genotype carriers, the SMAD9 gene rs397514716 locus TT genotype carriers, and alcohol drinkers had the highest EH risk.Conclusion: The single nucleotide polymorphisms of the rs6435156 and rs1048829 locus in the BMPR2 gene, the rs121909287 loci in the ACVRL1 gene, and the rs397514716 locus in the SMAD9 gene were associated with a risk of EH in Han Chinese.