·糖尿病分子生物学和遗传学·

　　【摘要】目的 探讨脂肪含量和肥胖相关基因(FTO基因)rs8057044等多态性与哈萨克族MS的关系。方法 采用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)检测245例MS患者和244名健康对照(NC)者的FTO基因rs8057044、rs9969309及rs1421085基因型。结果 MS组rs9969309、rs1421085基因型(χ2=0.306，P=0.858;χ2=0.399，P=0.819)和等位基因 (χ2=0.002，P=0.969;χ2=0.014，P=0.905) 频率与NC组比较，差异均无统计学意义。MS组rs8057044基因GG基因型和G等位基因频率高于NC组(GG基因型：39.2% vs 28.7%;G等位基因：61.2% vs 53.5%);而AA基因型和A等位基因频率低于NC组(AA基因型：17.1% vs 21.7%;A等位基因：38.8% vs 46.5%)，两组基因型和等位基因频率差异有统计学意义(P均<0.05)。对其进行风险分析后，GA、GG基因型个体患MS风险分别为携带AA基因型的1.112、1.731倍，携带G等位基因的个体患MS风险是携带A等位基因的1.367倍，将BMI引入Logistic回归模型后，基因型与MS相关性消失。rs9969309、rs1421085各基因型临床生化指标比较差异无统计学意义。rs8057044 GG基因型的体重、WC、臀围(HC)、BMI与AA+GA基因型比较差异有统计学意义(P均<0.05)，其他临床生化指标与AA+GA基因型比较差异无统计学意义。结论 FTO基因单核苷酸多态性(SNP) rs9939609、rs1421085多态性与新疆哈萨克族MS无相关性，新疆哈萨克族FTO基因rs8057044的GG基因型和G等位基因个体患MS风险升高。rs8057044 GG基因型的体重、WC、HC、BMI与AA/GA基因型比较差异有统计学意义，其他位点多态性的临床生化指标比较差异无统计学意义。

　　【关键词】FTO基因;代谢综合征;基因多态性;体质指数;哈萨克族

Association of FTO gene rs8057044, rs9969309, and rs1421085 polymorphisms with metabolic syndrome in Kazakh of Xinjiang WEI Wei, GUO Shu-xia, MA Ru-lin, et al. Department of Preventive Medicine, Medical College, Shihezi University, Shihezi 832002, China

Corresponding author: GUO Shu-xia, E-mail:pge888@sina.com

　　【Abstract】Objective To investigate the association of FTO gene rs8057044, rs9969309, and rs1421085 polymorphisms with the metabolic syndrome (MS) 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 245 MS patients and 244 controls). Results Compared with the control group, there were no significant differences in the MS group in the frequencies of rs9969309 and rs1421085 genotype (χ2=0.306, P=0.858; χ2=0.399, P=0.819) and allele (χ2=0.002, P=0.969; χ2=0.014, P=0.905). The frequencies of rs8057044 GG genotype and G allele in the MS group were all higher than those in the control group (GG genotype: 39.2% vs 28.7%, G allele: 61.2% vs 53.5%), while the frequencies of AA genotype and A allele in the MS group were all lower than those in the control group (AA genotype: 17.1% vs 21.7%; A allele: 38.8% vs 46.5%). There were significant differences in the frequencies of genotype and allele (P<0.05). The risk analysis showed that the MS risk for those people with GA and GG genotype was 1.112 and 1.731 times more than that for those with AA genotype, and the MS risk for those people with G allele was 1.367 times more than that for those with A allele. After BMI correction, the association between polymorphism and MS disappeared. There were no significant associations in clinical and biochemical indicators of various genotypes of rs9969309 and rs1421085. There existed a significant difference in weight, WC, hip circumference (HC) and BMI between the rs8057044 AA+GA genotypes when compared with GG genotypes (P<0.05). However, other relevant indicators showed no significant difference between the AA+GA genotypes and GG genotypes. Conclusion The polymorphism in FTO gene at rs9939609 and rs1421085 is not associated with MS in Kazak population, but those who were with GG genotype and G allele in FTO gene at rs8057044 are involved in the high risk of MS. The statistic difference was shown in weight, WC, HC and BMI of rs8057044 GG genotype when compared with AA/GA genotypes and there was no difference in the clinical biochemical indicators of other sites.

　　【Key words】Fat mass and obesity associated (FTO) gene; Metabolic syndrome (MS); Gene polymorphism; BMI; Kazakhs