Association of the TGF-beta1 gene polymorphisms and blood TGF-beta 1 level with essential hypertension in Kazakh Chinese / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 463-468, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-234381
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association of the transforming growth factor- beta 1 (TGF- beta 1) gene polymorphisms and blood TGF- beta 1 level with essential hypertension (EH) in Kazakh Chinese.</p><p><b>METHODS</b>The polymorphisms of TGF- beta 1 gene in 354 Kazakh EH patients and 435 healthy controls were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing. The blood level of TGF- beta 1 was quantified using specific sandwich ELISA.</p><p><b>RESULTS</b>The frequencies of genotypes GG, GC and alleles G and C of +915G/C in Xinjiang Kazakh were 97.9%, 2.1% and 98.77%, 1.23%, respectively. No significantly difference was found between EH patients and controls (P>0.05). The frequencies of genotypes TT, TC, CC and alleles T and C of +869T/C in controls was 25.97%, 46.67%, 27.36%, 49.3% and 50.7%, respectively, the CC genotype or C allele in EH patients had significantly higher frequencies than controls [41.60% vs. 27.36%, and 62.2% vs. 50.7%, respectively (P<0.05)]. It was also shown that TGF- beta 1 +869 C allele carriers had significantly increased risk of EH compared with T allele carriers (OR=1.60, P=0.00). There was linkage disequilibrium (LD) between the two polymorphisms. The frequency of haplotype C-G in the EH group was significantly higher than that in controls (61.6% vs. 49.8%, P<0.05). There were no differences in TGF- beta 1 level among different genotypes or alleles in both +869T/C and +915G/C loci (P>0.05).</p><p><b>CONCLUSION</b>The frequency of +915G/C variation of the TGF- beta 1 gene was very low in Kazakh and there was no homozygous variation. The +869 C allele was likely the genetic susceptibility factor for EH in the population. There was linkage disequilibrium in the polymorphisms of +869T/C and +915G/C. Haplotype C-G was the risk factor of EH.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Linkage Disequilibrium
/
Epidemiology
/
Risk Factors
/
Genetic Predisposition to Disease
/
Asian People
/
Alleles
/
Ethnology
/
Transforming Growth Factor beta1
/
Genetics
Type of study:
Etiology study
/
Risk factors
Limits:
Adult
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article
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