Association between CACNB2 gene polymorphisms and essential hypertension / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 340-344, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-237253
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sequência de Bases
/
Estudos de Casos e Controles
/
Linhagem Celular
/
Predisposição Genética para Doença
/
Canais de Cálcio Tipo L
/
Polimorfismo de Nucleotídeo Único
/
Alelos
/
Frequência do Gene
/
Genética
/
Genótipo
Tipo de estudo:
Estudo observacional
/
Fatores de risco
Limite:
Idoso
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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