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内皮型一氧化氮合酶(G894T,rs1799983)和钾离子通道, inward rectifier, subfamily J, member 11(E23K,rs5219)基因多态性与北印度人群冠心病的关系。

Association of eNOS (G894T, rs1799983) and KCNJ11 (E23K, rs5219) gene polymorphism with coronary artery disease in North Indian population.

机构信息

Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, India.

Department of Molecular biology, Manipal Academy of Higher Education.

出版信息

Afr Health Sci. 2021 Sep;21(3):1163-1171. doi: 10.4314/ahs.v21i3.25.

Abstract

BACKGROUND

Endothelial nitric oxide synthase (eNOS) and potassium voltage-gated channel subfamily J member 11 (KCNJ11) could be the candidate genes for coronary artery disease (CAD). This study investigated the relationship of the eNOS (rs1799983) and KCNJ11 (rs5219) polymorphisms with the presence and severity of CAD in the North Indian population.

METHODS

This study included 300 subjects, 150 CAD cases and 150 healthy controls. Single nucleotide polymorphism was evaluated by Polymerase chain reaction and Restriction fragment length polymorphism (PCR-RFLP). Analysis was performed by SPSS (version 21.0).

RESULTS

We observed that KK genotype of KCNJ11E23K (rs5219) polymorphism (P=0.0001) genotypes and K allele (P=0.0001) was found to be a positive risk factor and strongly associated with CAD. In the case of eNOSG894T (rs1799983) there was no association found with CAD.

CONCLUSION

These results illustrate the probability of associations between SNPs and CAD although specific genetic polymorphisms affecting ion channel function and expression have still to be clarified by further investigations involving larger cohorts.

摘要

背景

内皮型一氧化氮合酶(eNOS)和钾电压门控通道亚家族 J 成员 11(KCNJ11)可能是冠心病(CAD)的候选基因。本研究探讨了 eNOS(rs1799983)和 KCNJ11(rs5219)多态性与北印度人群 CAD 的存在和严重程度的关系。

方法

本研究纳入了 300 名受试者,其中 150 例 CAD 患者和 150 名健康对照者。通过聚合酶链反应和限制性片段长度多态性(PCR-RFLP)评估单核苷酸多态性。采用 SPSS(版本 21.0)进行分析。

结果

我们观察到 KCNJ11E23K(rs5219)多态性的 KK 基因型(P=0.0001)和 K 等位基因(P=0.0001)是 CAD 的阳性危险因素,与 CAD 密切相关。在 eNOSG894T(rs1799983)方面,与 CAD 无相关性。

结论

这些结果表明 SNP 与 CAD 之间存在关联的可能性,尽管影响离子通道功能和表达的特定遗传多态性仍需进一步研究更大的队列来阐明。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/42f3/8843271/70d0e89fb327/AFHS2103-1163Fig1.jpg

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