中国老年人HDAC9和PPP3CA基因多态性与衰弱的关联

  目的  探讨组蛋白去乙酰化酶9(histone deacetylase 9, HDAC9) rs2074633及钙调神经磷酸酶催化亚基A(calcineurin catalytic subunit A, PPP3CA) rs17030795的多态性与中国老年人衰弱发生的关联。  方法  本研究纳入衰弱组665例，对照组3 388例。基于基因型频率及五种遗传模型(共显性、加性、显性、隐性和超显性)，评估rs2074633及rs17030795多态性与衰弱之间的关联。  结果  在共显性模型中，与携带rs2074633 TT基因型相比，携带TC型(OR=1.99，95% CI: 1.36~2.90)、CC型(OR=2.15，95% CI: 1.48~3.13)的个体发生衰弱的风险增加；在加性(OR=1.28，95% CI: 1.11~1.47)、显性(OR=2.07，95% CI: 1.44~2.98)及隐形模型(OR=1.21，95% CI: 1.01~1.45)中rs2074633多态性均增加衰弱的发生风险；在共显性模型中，与携带rs17030795 AA基因型相比，携带AG(OR=1.72，95% CI: 1.19~2.51)、GG(OR=1.98，95% CI: 1.37~2.87)型的个体发生衰弱的风险增加；在加性(OR=1.28，95% CI: 1.11~1.48)、显性(OR=1.85，95% CI: 1.29~2.66)及隐性(OR=1.25，95% CI: 1.04~1.50)中rs17030795多态性均增加衰弱的发生风险。   结论  HDAC9 rs2074633及PPP3CA rs17030795多态性与中国老年人衰弱发生风险有关。

Associations of single nucleotide polymorphisms of HDAC9 and PPP3CA genes with frailty in the Chinese elderly people

  Objective  To explore the associations between the single nucleotide polymorphism (SNP) of histone deacetylase 9 (HDAC9) and calcineurin catalytic subunit A (PPP3CA) and frailty in the Chinese elderly people.  Methods  Our study included 665 participants in the frailty group and 3 388 participants in the control group. Associations between rs2074633 and rs17030795 gene polymorphisms and frailty were evaluated based on genotype frequencies, and five genetic models (co-dominance, additive, dominance, recessive and over-dominance models).  Results  In co-dominance model, individuals carrying HDAC9 rs2074633 TC genotype (OR=1.99, 95% CI: 1.36-2.90) and CC genotype (OR=2.15, 95% CI: 1.48-3.13) were more likely to develop frailty, compared with those carrying TT genotype3. The rs2074633 polymorphisms increased the risk of frailty in both additive model (OR=1.28, 95% CI: 1.11-1.47), dominant model (OR=2.07, 95% CI: 1.44-2.98) and recessive model (OR=1.21, 95% CI: 1.01-1.45). In co-dominance model, individuals carrying PPP3CA rs17030795 AG (OR=1.72, 95% CI: 1.19-2.51) genotype and GG (OR=1.98, 95% CI: 1.37-2.87) genotype were more likely to develop frailty, compared with those carrying AA genotype. The rs17030795 polymorphisms increased the risk of frailty in both additive model (OR=1.28, 95% CI: 1.11-1.48), dominant model (OR=1.85, 95% CI: 1.29-2.66) and recessive model (OR=1.25, 95% CI: 1.04-1.50).   Conclusions  The rs2074633and rs17030795 polymorphisms are associated with the increased risk of frailty.