Dataset Information

Correlation between rs198388 and rs198389 polymorphismsin brainnatriuretic peptide (NPPB) gene and susceptibility to congenital heart diseases in a Chinese population.

ABSTRACT: 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.

SUBMITTER: Zhang Q

PROVIDER: S-EPMC4694449 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Correlation between rs198388 and rs198389 polymorphismsin brainnatriuretic peptide (NPPB) gene and susceptibility to congenital heart diseases in a Chinese population.

Zhang Qing Q Gong Fang-Qi FQ Zhu Wei-Hua WH Xie Chun-Hong CH Zhang Yi-Ying YY Ying Li-Yang LY

International journal of clinical and experimental medicine 20151015 10

<h4>Objective</h4>We discussed the correlation between SNP loci (rs198389 and rs198388) in brain natriuretic peptide gene (NPPB) and susceptibility to congenital heart diseases (CHD).<h4>Method</h4>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.<h4>Results</h4>The distribution frequency of 3 genotypes (AA, AG and GG) at locus rs198389 was 40.7%, 36.0% and 23.3% in CHD group, respecti ...[more]

PMID: 26770549

Similar Datasets

Project description:Tuberculosis (TB) is an infectious disease caused by a mycobacterial infection, with high morbidity and mortality worldwide. The pathogenesis of TB is still unclear; however, a growing body of evidence suggests that host genetic factors may play important roles in susceptibility to TB, and different gene polymorphisms in different ethnic and genetic backgrounds may lead to different effects. In view of the above theories, our research group used bioinformatics to screen for 12 single nucleotide polymorphisms (SNPs), including rs1045481, rs1045491, rs2740349, rs10719, rs642321, rs3744741, rs7813, rs3742330, rs3757, rs14035, rs720012, and rs4961280, which are derived from 6 main genes (i.e., GEMIN4, DICER1, DROSHA, DGCR8, AGO2, and RAN) acting in the microRNA-machinery pathway. We then analyzed the correlations between TB patients of Uygur in Xinjiang China and the above SNPs using a case-control study. The results showed that the genotypic distributions of rs720012 (from gene DGCR8) and rs4961280 (from gene AGO2) were not in accordance with the Hardy-Weinberg equilibrium (P?<?.05), so they were deleted. Subjects carrying the rs3742330 AG/GG genotype, rs1045481 GA genotype, rs1045491 CT genotype, and rs7813 AG genotype, respectively, had an increased risk of TB than individuals carrying rs3742330 AA genotype, rs1045481 GG/AA genotype, rs1045491 CC/TT genotype, and rs7813 AA/GG genotype between different groups. Expression quantitative trait loci analysis found that rs3744741 and rs2740349 from gene GEMIN4 had a regulatory effect, while rs3742330 from gene DICER1 had a reverse regulatory effect. Finally, according to the results of Linkage Disequilibrium between SNPs, the haplotype analysis showed that the haplotype of GCTAC from gene GEMIN4 had statistical differences when compared with active and inactive TB. The current experimental results provide a direction for our future research, and the research team will conduct more in-depth studies on the correlation between miRNA and TB.

Dataset Information

Correlation between rs198388 and rs198389 polymorphismsin brainnatriuretic peptide (NPPB) gene and susceptibility to congenital heart diseases in a Chinese population.

Publications

Correlation between rs198388 and rs198389 polymorphismsin brainnatriuretic peptide (NPPB) gene and susceptibility to congenital heart diseases in a Chinese population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure