FTO基因SNPrs9939609等多态性与新疆哈萨克族肥胖人群的关系

为研究脂肪量和肥胖相关（FTO）基因单核苷酸多态性与新疆哈萨克族人群超重肥胖及其相关代谢指标的关系。应用基质辅助激光解吸电离飞行时间质谱技术（MALDI—TOF-MS）检测489名研究对象（252例超重肥胖患者和237名对照）FTO基因rs9939609、rs1421085、rsS050136的基因型。结果显示：1）rs1421085CC基因型频率肥胖组为7．2％，超重组为4．4％，对照组为5．6％；rs8050136AA基因型频率肥胖组为6．3％，超重组为5．8％，对照组为5．9％；rs9939609AA基因型频率肥胖组为6．4％，超重组为4．3％，对照组为5．6％。所检测3个位点的各基因型频率差异均无统计学意义（P〉0．05）。2）rs1421085、rs8050136、rs9939609的超重＋肥胖组与对照组的基因型频率及等位基因型频率分布差异无统计学意义。3）rs1421085TT基因型空腹血浆葡萄糖水平（FPG）与CC＋TC基因型差异有统计学意义（P=0．045），但在其他相关代谢指标中与CC＋TC基因型差异无统计学意义；rs8050136、rs9969309各基因型在肥胖相关代谢指标方面差异均无统计学意义（P〉0．05）。由此可知，FTO基因单核苷酸多态性（SNP）rs9939609、rs8050136、rs1421085多态性与新疆哈萨克族超重肥胖不存在相关性。除rs1421085TT基因型FPG与AA＋TC基因型差异有统计学意义外，其他位点多态性对代谢指标影响并无差异。

Association of FTO Gene rs9939609,etc Polymorphisms with Obesity in Kazakh of Xinjiang

Objective：To investigate the association of the fat-mass and obesity associated（FTO）gene rs1421085, rs8050136, rs9939609 polymorphism on overweight and obesity in Kazakh of Xinjiang. Methods：Matrix-Assisted Laser Desorption/ Ionization Time of Flight Mass Spectrometry（MALDI-TOF-MS）was used to detect FTO gene rs1421085, rs8050136 and rs9939609 genotypes in 489 subjects（including 252 overweight and obesity patients,237 controls）. Results：l）The frequencies of CC geno type of rs1421085 ：obesity group was 7.2% ,overweight group was 4.4% ,and the control group was 5.6%. The frequencies of AA genotype of rs8050136 ：obesity group was 6.3% ,overweight group was 5.8% ,and the control group was 5.9%. The fre quencies of AA genotype of rs9939609：obesity group was 6.4% ,overweight group was 4.3% ,and the control group was 5. 6 %. The frequencies of FTO gene rs1421085, rs8050136 and rs9939609 genotypes existed significantly difference between over weight,obesity and controls group. 2）The frequencies of FTO gene rs1421085, rsS050136and rs9939609 genotypes and alleles existed significantly different between overweight＋obesity and controls group in Kazakh. 3）There existed significant difference in Fasting Plasma Glucose（FPG） between the rs1421085 AA＋TC genotypes when compared with TT genotypes（P~0. 045） However,other relevant indicators showed no significant difference between the CC＋ CA genotypes and TT genotypes. There was no significant association between rs9939609, rs8050136 and obesity-related traits. Conclusion： The polymorphism in FTO gene at rs9939609,rs8050136 and rs1421085 is not associated with obesity in Kazak population. Difference in FDG between rs1421085TT genotype and AA＋TC genotype shows statistic significance. The effects of pdymorphism of the Execpt existed significant other sites on metabolic indicators show no difference.