Sun Qian, Wang Xin, Huang Ying, Hu Yunliang, Tang Jifei, Lin Yan, Niu Yuxin, Wang Xiaoou, Du Bing
Department of Clinical Laboratory, Second Affiliated Hospital of Wenzhou Medical College, Wenzhou, Zhejiang 325027, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):340-4. doi: 10.3760/cma.j.issn.1003-9406.2013.03.020.
To assess the association between single nucleotide polymorphisms (SNPs) of calcium channel β 2 subunit (CACNB2) gene and essential hypertension (EH) in ethnic Han Chinese in Wenzhou area, and to study the influence of rs7069292 alleles on gene expression with luciferase reporter technique.
Sixty hundred and thirty seven Han Chinese with EH and 600 normal controls were enrolled. Genotypes of 6 SNP within CACNB2 gene including rs2228645, rs2357928, rs7069292, rs7099380, rs10764319 and rs11014166 were determined with matrix assisted laser desorption ionization/time of flight mass spectrometer (MALDI-TOF MS). A luciferase reporter gene plasmid containing the fragment flanking rs7069292 (-2831 bp to -2460 bp) in the 5' regulatory region of CACNB2 was constructed.
Compared with the control, CT and TT genotypes for the rs7069292 locus were significantly more common in EH group (5.20% vs. 2.17%, 2.59% vs. 1.08%, P< 0.05). CC genotype was not found. Promoter activity for allele C of the rs7069292 locus was significantly increased compared with allele T (P< 0.05). No significant difference was detected for other 5 SNPs in terms of genotypes and allele frequency.
The rs7069292 CT polymorphism of the CACNB2 gene is associated with EH in ethnic Han Chinese from Wenzhou area. A T>C mutation may affect the expression of CACNB2.
评估温州地区汉族人群钙通道β2亚基（CACNB2）基因单核苷酸多态性（SNP）与原发性高血压（EH）的相关性，并采用荧光素酶报告技术研究rs7069292等位基因对基因表达的影响。
纳入637例汉族EH患者和600例正常对照。采用基质辅助激光解吸电离飞行时间质谱仪（MALDI-TOF MS）检测CACNB2基因6个SNP（rs2228645、rs2357928、rs7069292、rs7099380、rs10764319和rs11014166）的基因型。构建含有CACNB2基因5'调控区rs7069292侧翼片段（-2831 bp至-2460 bp）的荧光素酶报告基因质粒。
与对照组相比，rs7069292位点的CT和TT基因型在EH组中显著更常见（5.20%对2.17%，2.59%对1.08%，P<0.05）。未发现CC基因型。rs7069292位点等位基因C的启动子活性与等位基因T相比显著增加（P<0.05）。其他5个SNP的基因型和等位基因频率未检测到显著差异。
CACNB2基因的rs7069292 CT多态性与温州地区汉族人群的EH相关。T>C突变可能影响CACNB2的表达。
