LI Li , HUANG Fuhua , SHEN Chong
  • 1. Department of Thoracic and Cardiovascular Surgery, Nanjing First Hospital Affiliated to Nanjing Medical University, Nanjing 210006, P. R. China;;
  • 2. Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 210029, P. R. China;
Rheumatic heart disease; Transforming growth factor-β receptor typeⅡ; Gene polymorphisms; Case-control study
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Abstract： Objective To explore the association between transforming growth factor-β receptor typeⅡ (TGFBR2) gene rs6785358 and rs764522 polymorphisms and rheumatic heart disease (RHD) in Chinese Han People. Methods The research design was a case-control study. A total of 207 patients who were hospitalized in Nanjing First Hospital Affiliated to Nanjing Medical University between October 2008 and January 2011 with RHD served as RHD group while 225 age and gender matched healthy adults as control group. Polymerase chain reaction-restriction length polymorphism (PCR-RFLP) technique was used to determine TGFBR2 gene rs6785358 and rs764522 polymorphisms. Results The frequencies of genotype AA, AG and GG of rs6785358 in RHD group and control group were 72.0%, 25.1%, 2.9% and 68.9％, 28.0％, 3.1％,respectively. There was no significant difference in the distribution of genotype frequencies for rs6785358 between RHD group and control group（χ2=0.50，P=0.78）. The frequencies of allele A and G of rs6785358 in RHD group and control group were 84.5％, 15.5％ and 82.9％, 17.1％,respectively. There was no significant difference in the distribution of allele frequencies for rs6785358 between RHD group and control group（χ2=0.43，P=0.51）. The frequencies of genotype CC, CG and GG of rs764522 in RHD group and control group were 77.3%, 21.3%, 1.4% and 75.6％, 21.3％, 3.1％, respectively. There was no significant difference in the distribution of genotype frequencies for rs764522 between RHD group and control group（χ2=1.33，P=0.51）. The frequencies of allele C and G of rs764522 in RHD group and control group were 87.9％, 12.1％ and 86.2％, 13.8％,respectively. There was no significant difference in the distribution of allele frequencies for rs764522 between RHD group and control group（χ2=0.55，P=0.46）. Further analysis by sex stratification showed that no statistical significance was detected in the distribution of genotype and allele frequencies for rs6785358 or rs764522 between RHD patients and controls. Conclusion TGFBR2 gene rs6785358 and rs764522 polymorphisms are not associated with RHD in Chinese Han people.

Citation： LI Li,HUANG Fuhua,SHEN Chong,et al.. Association Study of Transforming Growth Factor-β Receptor TypeⅡGene rs6785358 and rs764522 Polymorphisms and Rheumatic Heart Disease in Chinese Han People. Chinese Journal of Clinical Thoracic and Cardiovascular Surgery, 2012, 19(1): 52-56. doi: Copy