中国人群中脑钠肽（NPPB）基因rs198388和rs198389多态性与先天性心脏病易感性的相关性
Correlation between rs198388 and rs198389 polymorphismsin brainnatriuretic peptide (NPPB) gene and susceptibility to congenital heart diseases in a Chinese population.
作者信息
Zhang Qing, Gong Fang-Qi, Zhu Wei-Hua, Xie Chun-Hong, Zhang Yi-Ying, Ying Li-Yang
机构信息
Department of Cardiology, Medical College Affiliated Children Hospital, Zhejiang University Hangzhou 310002, China.
出版信息
Int J Clin Exp Med. 2015 Oct 15;8(10):19162-6. eCollection 2015.
OBJECTIVE
We discussed the correlation between SNP loci (rs198389 and rs198388) in brain natriuretic peptide gene (NPPB) and susceptibility to congenital heart diseases (CHD).
METHOD
Multiplex SNaPshot technique was adopted for profiling of SNP genotypes at loci rs198389 and rs198388 in NPPB gene among 150 cases of CHDand 150 normal controls.
RESULTS
The distribution frequency of 3 genotypes (AA, AG and GG) at locus rs198389 was 40.7%, 36.0% and 23.3% in CHD group, respectively, showing significant differences compared with the normal controls (P<0.001). Gallele was associated with higher risk of CHD (OR=2.48, 95% CI=1.77-3.48). The distribution frequency of CC, CTand TT genotypes at locus rs198388 was 60.7%, 17.3% and 22.0% in CHD group, respectively, also showing significant differences compared with the normal controls (P<0.001). C allele could increase the risk of CHD (OR=1.92, 95% CI=1.48-2.48).
CONCLUSION
SNP loci rs198389 and rs198388 in NPPB gene were correlated with genetic susceptibility to CHD.
目的
探讨脑钠肽基因（NPPB）中的单核苷酸多态性位点（rs198389和rs198388）与先天性心脏病（CHD）易感性之间的相关性。
方法
采用多重SNaPshot技术对150例CHD患者和150例正常对照者的NPPB基因rs198389和rs198388位点的单核苷酸多态性基因型进行分析。
结果
CHD组rs198389位点3种基因型（AA、AG和GG）的分布频率分别为40.7%、36.0%和23.3%，与正常对照组相比差异有统计学意义（P<0.001）。G等位基因与CHD的高风险相关（OR=2.48，95%CI=1.77-3.48）。CHD组rs198388位点CC、CT和TT基因型的分布频率分别为60.7%、17.3%和22.0%，与正常对照组相比差异也有统计学意义（P<0.001）。C等位基因可增加CHD的风险（OR=1.92，95%CI=1.48-2.48）。
结论
NPPB基因中的单核苷酸多态性位点rs198389和rs198388与CHD的遗传易感性相关。
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