title: [Association between CACNB2 gene polymorphisms and essential hypertension].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Laboratory, Second Affiliated Hospital of Wenzhou Medical College, Wenzhou, Zhejiang 325027, P.R. China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Sun
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Huang
authors.forename: Yunliang
authors.initials: Y
authors.lastname: Hu
authors.forename: Jifei
authors.initials: J
authors.lastname: Tang
authors.forename: Yan
authors.initials: Y
authors.lastname: Lin
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Niu
authors.forename: Xiaoou
authors.initials: X
authors.lastname: Wang
authors.forename: Bing
authors.initials: B
authors.lastname: Du
mesh_terms: D000368:Aged; D000483:Alleles; D001483:Base Sequence; D020746:Calcium Channels, L-Type / Q000235:genetics*; D016022:Case-Control Studies; D002460:Cell Line; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: C107597:CACNB2 protein, human; D020746:Calcium Channels, L-Type