电压门控钙通道基因多态性与中国傣族人群高血压的相关性：一项病例对照研究。
Association between gene polymorphisms of voltage-dependent Ca channels and hypertension in the Dai people of China: a case-control study.
机构信息
Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China.
Department of General Surgery of the 2nd People Hospital of Yunnan Province, Kunming, China.
出版信息
BMC Med Genet. 2020 Feb 28;21(1):44. doi: 10.1186/s12881-020-0982-9.
BACKGROUND
Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-dependent calcium channels (VDCCs), the variations in these genes may have important effects on the development of hypertension. Here we evaluate VDCCs variability with respect to hypertension in the Dai ethnic group of China.
METHODS
A total of 1034 samples from Dai individuals were collected, of which 495 were used as cases, and 539 were used as controls. Blood pressure was measured using a standard mercury measurement method, three times with a rest for 5 min, and the average was used for analyses. Seventeen single nucleotide polymorphisms (SNPs) in the four protein-coding genes (CACNA1A, CACNA1C, CACNA1S, CACNB2) of VDCCs were identified by multiplex PCR-SNP typing technique. Chi-square tests and regression models were used to analyse the associations of SNPs with hypertension.
RESULTS
The results of chi-square tests showed that the allele frequencies of 5 SNPs were significantly different between the case and the control groups (P < 0.05), but the statistical significance was lost after Bonferroni's correction. However, after adjusting for BMI, age, sex and other factors by logistic regression analyses, the results showed that 5 SNPs consistent with chi-square tests (rs2365293, rs17539088, rs16917217, rs61839222 and rs10425859) were still statistically positive.
CONCLUSIONS
This finding suggested that the significant association of these SNPs with hypertension may be noteworthy in future studies.
背景
异常的钙稳态与高血压的发展有关。作为细胞内钙离子浓度的关键调节剂，电压依赖性钙通道（VDCCs），这些基因的变异可能对高血压的发展有重要影响。在这里，我们评估了中国傣族群体中 VDCCs 变异性与高血压的关系。
方法
共采集了 1034 例傣族个体的样本，其中 495 例作为病例，539 例作为对照。采用标准汞测量法测量血压，休息 5 分钟后测量三次，取平均值进行分析。采用多重 PCR-SNP 分型技术鉴定了四个 VDCC 蛋白编码基因（CACNA1A、CACNA1C、CACNA1S、CACNB2）中的 17 个单核苷酸多态性（SNP）。采用卡方检验和回归模型分析 SNP 与高血压的相关性。
结果
卡方检验结果显示，病例组和对照组之间 5 个 SNP 的等位基因频率存在显著差异（P<0.05），但经过 Bonferroni 校正后，统计学意义消失。然而，通过 logistic 回归分析校正 BMI、年龄、性别等因素后，与卡方检验一致的 5 个 SNP（rs2365293、rs17539088、rs16917217、rs61839222 和 rs10425859）仍具有统计学意义。
结论
这一发现表明，这些 SNP 与高血压的显著相关性在未来的研究中可能值得关注。
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