Beta-adducin（Add2）基因rs3755351多态性与高血压遗传易感的相关性研究

目的探讨Beta-adducin（Add2）基因的rs3755351单核苷酸多态性与福建和广东人群中高血压发病的相关性。方法应用MassARRAY-IPLEX技术和基质辅助激光解吸电离飞行时间质谱平台（Matrix-assisted laser desorption/ionization time of fight mass spectrometry,MALDI-TOF-MS）对广东和福建940例高血压患者和944名健康查体者对照进行Add2基因rs3755351位点的基因分型。用χ2检验统计分析病例组和对照组基因型和等位基因的频率;采用非条件Logistic回归分析,计算比值比（OR）和95%CI,评价多态性位点与高血压遗传易感性的相关性。结果 Add2基因rs3755351多态位点有AA,AC和CC三种基因型,在隐性模型中,Add2基因的rs3755351多态位点AA、AC-CC基因型在福建高血压人群中的分布频率为10.5%和89.5%,与对照组（14.2%、85.8%）相比差异有统计学意义（P〈0.05）,与AC或CC基因型相比,携带AA基因型能显著降低患高血压的发病危险（OR=0.65,95%CI：0.43~0.99,P=0.044）;rs3755351的AA、AC和CC基因型在广东高血压人群中的分布频率为15.1%、53.0%和31.8%,与对照组（12.4%、52.4%和35.2%）相比差异无统计学意义（P〉0.05）。结论 Add2基因的rs3755351多态位点与福建人群的高血压遗传易感性相关,与AC或CC基因型相比,携带AA基因型能显著降低患高血压的发病危险;rs3755351在广东人群中未发现与高血压的遗传易感性相关。

Association study of beta-adducin (Add2) gene rs3755351 single nucleotide polymorphism with genetic susceptibility of hypertension

Objective To determine the association of Add2 rs3755351 with the genetic susceptibility of hypertension in Chinese population from Fujian and Guangdong province.Methods Add2 rs3755351 was genotyped by MassARRAY SNP genotyping system in 940 patients with hypertension and 944 controls,which collected in Guangdong and Fujian from 2010~2012.Association analysis based on unconditional logistic regression was carried out to determine the odds ratio（OR） and 95% confdence interval（95%CI）.Results Genotypes AA,AC and CC in the Add2 rs3755351 1ocus were detected.In Fujian population,the frequencies of genotypes AA,AC-CC were 10.5%,89.5% in hypertension patients,which were signifcantly different from that in controls（14.2%,85.8%）,P0.05.Compared with homozygote and heterozygote variant forms（AA and AC）,AA genotype can signifcantly reduce the risk of developing hypertension（OR= 0.65,95%CI： 0.43~0.99,P=0.044）.In Guangdong population,the frequencies of genotypes AA,AC,CC were 15.1%,53.0%,31.8% in hypertension patients,which were not signifcantly different from that in controls（12.4%,52.4%,and 35.2%）,P0.05.Conclusion There was an signifcant association between rs3755351 and the susceptibility of hypertension in Fujian population.Compared with rs3755351 AC or CC genotype,carrying the AA genotype can signifcantly reduce the risk of high blood pressure.While no association were found between rs3755351 and the susceptibility of hypertension in Guangdong population.