Correlation Between Rs198388 And Rs198389 Polymorphismsin Brainnatriuretic Peptide (Nppb) Gene And Susceptibility To Congenital Heart Diseases In A Chinese Population

INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE(2015)

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摘要
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.
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关键词
Brain natriuretic peptide (NPPB), single nucleotide polymorphism (SNP), congenital heart disease (CHD), genetic susceptibility
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