GALNT2 rs4846914多态性位点在中国汉族人群分布及其对血脂的影响  

Distribution of GALNT2 rs4846914 and its effect on serum fipid levels in Han Chinese

作　　者：谭晓华[1] 孟强[1] 曹亦菲[1] 王保东[1,2] 黄仙红[1] 兰满[1] 杨磊[1,2] 

机构地区：[1]杭州师范大学医药卫生管理学院,310036 [2]石河子大学医学院,832002

出　　处：《国际遗传学杂志》2012年第4期198-202,223,共6页International Journal of Genetics

基　　金：杭州市科技发展计划项目（20090233T07）

摘　　要：目的研，究多肽N-乙酰半乳糖胺基转移酶2（N—acetylgalactosaminyhransferase2，GALNT2）基因rs4846914位点在中国汉族人群中的分布频率，分析该位点对血脂水平和血脂异常的影响。方法采用横断面调查方法，收集2397例（其中男性1511例，女性886例）汉族人群样本。采用MALDI—TOFMS技术检测rs4846914位点基因分型，采用多重线性回归法分析基因型对4项血脂指标影响程度的大小，二分类Logistic回归法分析基因型对血脂异常发病风险的大小，以P〈0．05为有统计学意义。结果GALNT2 rs4846914位点A等位基因在中国汉族人群中的频率为20．4％。AA基因型人群的高密度脂蛋白胆固醇（high—densitylipoproteincholesterol，HDL—C）水平显著高于GG基因型（P=0．034），女性人群A4基因型的总胆固醇（totalcholesterol，TC）水平也显著高于GG型（P=0．019）。在男性人群，朋基因型的低HDL—C血症发病风险是GG基因型的0．478倍．（P=0．045，OR=0．478，95％CI：0．233—0．983）。结论中国汉族人群rs4846914位点以G等位基因为主，明显不同于西方人群以A等位基因为主的特点。中国汉族人群中，该位点AA基因型可增加血浆HDL-C水平，并减少男性低HDL-C血症发生。Objective To investigate the distribution of rs4846914 polymorphism in polypeptide N-acetyl galaetosaminyhransferase .2 （GALNT2） gene in Chinese Han population, and explore its association with serum lipid levels and dyslipidemia. Methods 8 8 6 females ） were recruited for this cross-sectional A total of 2397 Han Chinese （1511 males and study. The genotype of rs4846914 was detected by MALDI-TOF MS method. The associations of genotypes distribution and lipid levels were analyzed by multiple linear regression methods, ancl the odd risk of genotypes distribution on dyslipidemia was estimated by binary Logistic regression analysis. The P value less than 0. 05 were considered statistically significant. Results The allelie of frequency rs4846914 A is 20.4% in this Han Chinese population. The males bearing AA genotype with higher HDL-C levels （ P = 0.034 ） , and the females with higher TC and HDL- C levels, compared with those bearing GG genotype （ P = 0.019 ） . The males bearing AA genotype have significantly decreased low HDL-C risk compared with those bearing GG genotype （ P = 0. 045, OR = 0. 478, 95% CI：0. 233-0. 983）. Conclusion In Han Chinese, the major allele of rs4846914 isG, in Chiiaese Han population, the AA genotype may be associated with a increased HDL-C level and a decreased low HDL-C dyslipidemia risk.

关 键 词：GALNT2基因 rs4846914 中国汉族人群 血脂异常 

分 类 号：R394[医药卫生—医学遗传学]