脑钠肽基因多态性与先天性心脏病易感性的相关性研究

摘要

Objective To study the correlation between brain natriuretic peptide ( NPPB) SNP genes (rs198389 and rs198388) and the susceptibility of congenital heart diseases in the population of Boluo County. Methods NPPB gene SNP locus (rs198389 and rs198388) genotypes of 30 cases of congenital heart diseases and the normal control group with 30 cases were detected with multiple SNaPshot technique.Results The distribution frequencies of 3 genotypes of AA, AG and GG in rs198389 locus of NPPB gene in the CHD group were 43.3%, 36.7% and 20%, which had a significant difference compared with the control group (p <0.05).AG and GG geno-types increased the onset risk of congenital heart disease (OR =3.76, 95%CI =2.14 ~5.02; OR =2.25, 95%CI =1.05 ~3.34).The distribution frequencies of AA and GG genotypes in rs198388 locus of NPPB gene in the CHD group were 20% and 63.3%, which had a significant difference compared with the control group (p <0.05).GG genotype increased the onset risk of congenital heart disease(OR =5.68, 95%; CI =4.86 ~7.05).Conclusion In the population of Boluo County, brain natriuretic peptide (NPPB) SNP genes (rs198389 and rs198388) can be asso-ciated with congenital heart diseases.%目的：研究博罗地区人群中脑钠肽（NPPB）基因的 SNP 位点（rs198389和 rs198388）与先天性心脏病易感性的相关性。方法利用多重 SNaPshot 技术，检测30例先天性心脏病患者和30例正常对照NPPB 基因 SNP 位点（rs198389和 rs198388）的基因型，评价 NPPB 基因多态性位点与先天性心脏病遗传易感性的相关性。结果 NPPB 基因 rs198389位点3种基因型（AA、AG 和 GG）分布频率在 CHD 病例组中分别为43．3％、36．7％和20．0％，与对照组相比差异有统计学意义（p ＜0．05），AG 基因型和 GG 基因型均能增加先天性心脏病的发病风险（OR ＝3．76，95％CI ＝2．14～5．02；OR ＝2．25，95％CI ＝1．05～3．34）；NPPB 基因 rs198388位点的基因型（AA 和 GG）分布频率在 CHD 病例组中分别为20．0％和63．3％，与对照组相比差异有统计学意义（p ＜0．05），GG 基因型能增加先天性心脏病的发病风险（OR ＝5．68，95％CI ＝4．86～7．05）。结论博罗地区人群中，脑钠肽（NPPB）基因的 SNP 位点（rs198389和 rs198388）与先天性心脏病的遗传易感性相关。