Referenced in: none

Automatically associated channels: Cavβ2 , Kir2.3

Title: [Association between CACNB2 gene polymorphisms and essential hypertension].

Authors: Qian Sun, Xin Wang, Ying Huang, Yunliang Hu, Jifei Tang, Yan Lin, Yuxin Niu, Xiaoou Wang, Bing Du

Journal, date & volume: Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2013 Jun , 30, 340-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23744328

Abstract
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.