An association between single nucleotide polymorphisms of Bcl-2 related anti apoptotic protein 3 gene and Keshan disease in north Chinese Han population / 中华地方病学杂志

ABSTRACT

Objective To investigate the relationship between single nucleotide polymorphisms of Bcl-2 related anti apoptotic protein 3 (BAG3) gene and Keshan disease (KD) in north Chinese Han population.Methods In 2002 a total of 285 Chinese Han subjects,including 79 KD patients and 206 control subjects were involved in this study.Genomic DNA was extracted from the peripheral venous blood sample.Blood samples were provided by the Institute of Endemic Disease Prevention,Xi'an Jiaotong University,and stored at 80 ℃.The polymorphism of genetic variation was genotyped by matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF).The data was analyzed using TYPER 4.0 or SPSS16.0 software.All sample groups were tested for Hardy-Weinberg equilibrium using goodness-of-fit x2 test.Differences in genotype distribution and allele frequencies between case and control were compared by x2 test.Logistic regression analysis was applied to detect association using age as a confounding factor.Results All sample group passed the Hardy-Weinberg equilibrium test (P ＞ 0.05).Significant differences were not observed in genotype distribution between cases (rs2234962CC,CT,TT were 0.0％,0.0％ and 100.0％,respectively;rs196295GG,GA,AA were 22.8％,54.4％ and 22.8％,respectively;rs3858339GG,GT,TT were 5.1％,38.0％ and 56.9％,respectively;rs3858340TT,TC,CC were 5.1％,38.0％ and 56.9％,respectively) and controls (rs2234962CC,CT,TT were 0.0％,1.0％ and 99.0％,respectively;rs196295GG,GA,AA were 21.4％,51.5％ and 26.2％,respectively;rs3858339GG,GT,TT were 5.8％,34.5％ and 59.7％,respectively;rs3858340TT,TC,CC were 5.8％,34.5％ and 59.7％,respectively) for rs2234962,rs3858339,rs196295 and rs3858340 on BAG3 gene (x2 =0.685,0.408,0.330,0.330,P ＞ 0.05).Significant differences were not observed in genotype after agecorrecting between cases and controls for 4 SNPs on BAG3 gene (x2 =0.001,0.019,1.009,0.019,P ＞ 0.05).Conclusion The results suggest that the BAG3 gene might not be a susceptibility gene of KD in north Chinese Han population.