Bayoglu Burcu, Yuksel Husniye, Cakmak Huseyin Altug, Dirican Ahmet, Cengiz Mujgan
Istanbul University, Cerrahpasa Medical Faculty, Department of Medical Biology, Istanbul, Turkey.
Istanbul University, Cerrahpasa Medical Faculty, Department of Cardiology, Istanbul, Turkey.
Clin Biochem. 2016 Jul;49(10-11):821-7. doi: 10.1016/j.clinbiochem.2016.02.012. Epub 2016 Mar 2.
Hypertension (HT) is a complex disorder influenced by both genetic and environmental factors. Recent genome-wide association studies have identified a major risk locus for atherosclerosis on chromosome 9p21.3. SNPs within the coding sequences of CDKN2A/B and the long non-coding RNA CDKN2B-AS1 could potentially contribute to HT development. Thus, this study aimed to investigate whether the frequency of four SNPs on chromosome 9p21.3 affects blood pressure (BP) levels in Turkish HT patients, and to examine correlations between these SNPs, specific SNP haplotypes, and HT.
This is a case-control study comparing HT patients and healthy controls. Real-time polymerase chain reaction (RT-PCR) analysis was utilized to detect SNPs rs10757274, rs2383207, rs10757278, and rs1333049 in 170 HT patients and 180 healthy controls.
Each SNP was detected at significantly higher frequencies in HT patients than in controls (p values 0.001); however, there was no significant link between rs10757274, rs2383207, rs10757278, and rs1333049 SNPs and HT grades. Furthermore, there was a significant association between elevated systolic BP levels and rs1333049 GG genotype (p=0.047), while weight gain and increased fasting glucose levels were significantly associated with rs2383207 AA genotype (p=0.020 and p=0.009, respectively). Lastly, we detected a correlation between GG, GA, and AG haplotypes in block 1 (rs10757274, rs2383207) and GC and AG haplotypes in block 2 (rs10757278, rs1333049) and HT.
Our findings suggest that SNPs rs10757274, rs2383207, rs10757278, and rs1333049, particularly those within the CDKN2B-AS1 gene, and related haplotypes may confer increased susceptibility to HT development.
高血压（HT）是一种受遗传和环境因素影响的复杂疾病。近期全基因组关联研究已确定9号染色体p21.3区域存在动脉粥样硬化的主要风险位点。CDKN2A/B编码序列内的单核苷酸多态性（SNPs）以及长链非编码RNA CDKN2B-AS1可能与高血压的发生有关。因此，本研究旨在探讨9号染色体p21.3区域四个SNPs的频率是否影响土耳其高血压患者的血压（BP）水平，并研究这些SNPs、特定单倍型与高血压之间的相关性。
这是一项比较高血压患者和健康对照的病例对照研究。利用实时聚合酶链反应（RT-PCR）分析检测170例高血压患者和180例健康对照中rs10757274、rs2383207、rs10757278和rs1333049这四个SNPs。
每个SNPs在高血压患者中的检出频率均显著高于对照组（p值均小于0.001）；然而，rs10757274、rs2383207、rs10757278和rs1333049这几个SNPs与高血压分级之间无显著关联。此外，收缩压升高与rs1333049的GG基因型显著相关（p = 0.047），而体重增加和空腹血糖水平升高分别与rs2383207的AA基因型显著相关（p分别为0.020和0.009）。最后，我们检测到1号区域（rs10757274、rs2383207）的GG、GA和AG单倍型以及2号区域（rsl0757278、rs1333049）的GC和AG单倍型与高血压之间存在相关性。
我们的研究结果表明rs10757274、rs2383207、rs10757278和rs1333049这几个SNPs，尤其是CDKN2B-AS1基因内的SNPs以及相关单倍型可能会增加患高血压的易感性。
