PMID- 20677160 OWN - NLM STAT- MEDLINE DCOM- 20101210 LR - 20221207 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 27 IP - 4 DP - 2010 Aug TI - [Association of the TGF-beta1 gene polymorphisms and blood TGF-beta 1 level with essential hypertension in Kazakh Chinese]. PG - 463-8 LID - 10.3760/cma.j.issn.1003-9406.2010.04.024 [doi] AB - OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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. FAU - Zhao, Dan AU - Zhao D AD - Department of Pathophysiology/Key Laboratory of Xinjiang Endemic and Ethnic Diseases, Ministry of Education of China, Shihezi University School of Medicine, Shihezi, Xinjiang, 832002 PR China. FAU - Hu, Qing-hua AU - Hu QH FAU - Deng, Feng-mei AU - Deng FM FAU - Zhong, Hua AU - Zhong H FAU - Guo, Shu-xia AU - Guo SX FAU - Shi, Xiao-peng AU - Shi XP FAU - Yang, Jian-feng AU - Yang JF FAU - He, Fang AU - He F LA - chi PT - Journal Article PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 RN - 0 (Transforming Growth Factor beta1) SB - IM MH - Adult MH - Alleles MH - Asian People/*ethnology/genetics MH - *Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Hypertension/epidemiology/*genetics MH - Linkage Disequilibrium/*genetics MH - Male MH - Middle Aged MH - Polymorphism, Genetic MH - Risk Factors MH - Transforming Growth Factor beta1/*genetics EDAT- 2010/08/03 06:00 MHDA- 2010/12/14 06:00 CRDT- 2010/08/03 06:00 PHST- 2010/08/03 06:00 [entrez] PHST- 2010/08/03 06:00 [pubmed] PHST- 2010/12/14 06:00 [medline] AID - 940627070 [pii] AID - 10.3760/cma.j.issn.1003-9406.2010.04.024 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):463-8. doi: 10.3760/cma.j.issn.1003-9406.2010.04.024.