Kunnas Tarja, Piesanen Jaakko, Nikkari Seppo T
1 Department of Medical Biochemistry, Faculty of Medicine and Life Sciences, University of Tampere , Tampere, Finland .
2 Fimlab Laboratories , Tampere, Finland .
Genet Test Mol Biomarkers. 2018 May;22(5):327-330. doi: 10.1089/gtmb.2017.0249.
Chromosome locus 9p21.3 CDKN2B antisense RNA 1 (CDKN2B-AS1) has been found to contain multiple genetic markers for coronary artery disease (CAD) by genome-wide association studies (GWAS). Of these, the association of variants rs4977574, rs10757274, and rs2383206 with hypertension was studied in the Tampere adult population cardiovascular risk study (TAMRISK).
A Finnish cohort of 336 subjects diagnosed with hypertension and 444 controls was analyzed. Samples were genotyped for the CDKN2B-AS1 polymorphisms using Kompetitive Allele Specific PCR (KASP) or TaqMan techniques.
Individuals with the minor genotype GG of rs4977574 had less hypertension compared to the other genotypes (p = 0.048, OR 1.58, 95% CI 1.01-2.48). The variants rs2383206 and rs10757274 were not associated with hypertension.
Our findings suggest that the GG genotype of the CDKN2B-AS1 gene variant rs4977574, which has been previously associated with an increased CAD risk, is also associated with a decreased susceptibility to the development of hypertension.
通过全基因组关联研究（GWAS）发现，染色体位点9p21.3的细胞周期蛋白依赖性激酶抑制剂2B反义RNA1（CDKN2B-AS1）含有多个冠状动脉疾病（CAD）的遗传标记。其中，在坦佩雷成年人群心血管风险研究（TAMRISK）中研究了rs4977574、rs10757274和rs2383206变异与高血压的关联。
分析了一个由336名被诊断为高血压的芬兰人和444名对照组成的队列。使用竞争性等位基因特异性PCR（KASP）或TaqMan技术对CDKN2B-AS1基因多态性进行基因分型。
与其他基因型相比，rs4977574次要基因型GG的个体患高血压的几率较低（p = 0.048，OR 1.58，95% CI 1.01 - 2.48）。rs2383206和rs10757274变异与高血压无关。
我们的研究结果表明，CDKN2B-AS1基因变异rs4977574的GG基因型，此前已被证明与CAD风险增加相关，同时也与高血压易感性降低有关。
