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.
Article
in Zh
| WPRIM
| ID: wpr-237253
Responsible library:
WPRO
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>
Full text:
1
Index:
WPRIM
Main subject:
Base Sequence
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Case-Control Studies
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Cell Line
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Genetic Predisposition to Disease
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Calcium Channels, L-Type
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Polymorphism, Single Nucleotide
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Alleles
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Gene Frequency
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Genetics
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Genotype
Type of study:
Observational_studies
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Risk_factors_studies
Limits:
Aged
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article