Clinical Medical Research Center of the Affiliated Hospital, Inner Mongolia Medical College, Hohhot, China.
Clin Exp Hypertens. 2012;34(7):482-7. doi: 10.3109/10641963.2012.666602. Epub 2012 May 11.
We investigated a possible association between genetic variations in chloride channel Kb (CLCNKB) gene and essential hypertension (EH) in the Mongolian and Han populations in Inner Mongolia. Our study included 414 unrelated Mongolian herdsmen and 524 Han farmers. Two tagSNPs of CLCNKB (rs945393 and rs10803414) were identified from the Chinese HapMap database based on pairwise r(2) ≥ 0.5 and minor allele frequency ≥0.05. Genotyping was performed using the PCR/ligase detection reaction assay. There was significant difference in allele frequency of rs10803414 between the EH group (35%) and the control group (26%) in the Mongolian population (P < .05). Significant association was identified between rs10803414 and EH in the Mongolian population (P < .05) and rs945393 and EH in the Han population (P < .01). The frequency of haplotype CC in the EH group (9.4%) was significantly higher than in the control group (4.6%) in the Mongolian population; individuals who possessed the CC haplotype had a significantly higher risk of EH in the Mongolian population. There was no association between haplotype and EH in the Han population. After adjusting for age, sex, and other confounding risk factors, only rs10803414 was the risk factor of hypertension in Mongolians. Our results indicate that rs10803414 in CLCNKB confers a significant risk of EH in the Mongolian population and haplotype CC of CLCNKB is a genetic factor for EH in the Mongolian population. Our study expands the association between CLCNKB and EH to a non-European ancestry population and provides the first evidence of a cross-race susceptibility of EH locus.
我们在内蒙古的蒙古族和汉族人群中研究了氯离子通道 Kb (CLCNKB) 基因的遗传变异与原发性高血压（EH）之间的可能关联。我们的研究包括 414 名无亲缘关系的蒙古族牧民和 524 名汉族农民。根据成对 r(2)≥0.5 和次要等位基因频率≥0.05，从中国 HapMap 数据库中确定了 CLCNKB 的两个标签 SNP(rs945393 和 rs10803414)。使用 PCR/连接酶检测反应测定法进行基因分型。在蒙古族人群中，EH 组（35%）和对照组（26%）之间 rs10803414 的等位基因频率存在显著差异（P<.05）。rs10803414 与蒙古族人群中的 EH 之间存在显著关联（P<.05），rs945393 与汉族人群中的 EH 之间存在显著关联（P<.01）。EH 组中 CC 单倍型的频率（9.4%）明显高于对照组（4.6%），蒙古族人群中携带 CC 单倍型的个体发生 EH 的风险明显更高。汉族人群中单倍型与 EH 之间没有关联。在调整年龄、性别和其他混杂风险因素后，只有 rs10803414 是蒙古族高血压的危险因素。我们的结果表明，CLCNKB 中的 rs10803414 赋予蒙古族人群 EH 的显著风险，CLCNKB 的 CC 单倍型是蒙古族人群 EH 的遗传因素。我们的研究将 CLCNKB 与 EH 的关联扩展到非欧洲血统人群，并提供了 EH 基因座跨种族易感性的首个证据。
