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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人群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、rs9939609及rs1421085基因型。结果 MS组rs9939609、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。rs9939609、rs1421085各基因型临床生化指标比较差异无统计学意义。rs8057044GG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人群MS无相关性,新疆哈萨克族人群FTO基因rs8057044的GG基因型和G等位基因个体患MS风险升高。rs8057044GG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。
Objective To investigate the relationship between polymorphism of rs8057044, such as fat content and obesity-related gene (FTO gene), and MS in Kazakh population. Methods The genotypes of rs8057044, rs9939609 and rs1421085 of FTO gene in 245 MS patients and 244 healthy controls were detected by matrix-assisted laser desorption / ionization time of flight mass spectrometry (MALDI-TOF-MS). Results The frequency of rs9939609 and rs1421085 genotypes (χ2 = 0.306, P = 0.858; χ2 = 0.399, P = 0.905) and alleles (χ2 = 0.002, Comparison, the difference was not statistically significant. The frequency of GG genotype and G allele of rs8057044 gene in MS group was higher than that in NC group (GG genotype: 39.2% vs 28.7%; G allele: 61.2% vs 53.5%). The frequency of AA genotype and A allele (AA genotype: 17.1% vs 21.7%; A allele: 38.8% vs 46.5%). There was significant difference in genotype and allele frequencies between the two groups (all P <0.05). After risk analysis, individuals with GA and GG genotypes had MS risk of 1.112,1.731 times that of AA genotype respectively. Individuals with G allele had a 1.367-fold risk of carrying the A allele and individuals with GMI After introducing Logistic regression model, the correlation between genotype and MS disappeared. rs9939609, rs1421085 genotypes of clinical biochemical indicators showed no significant difference. There were significant differences in body weight, WC, hip (HC), BMI and AA + GA genotypes among rs8057044GG genotypes (all P <0.05), but no difference in other clinical biochemical markers and AA + GA genotypes . Conclusion There is no correlation between SNPs rs9939609 and rs1421085 polymorphisms in FTO gene and MS in Kazakh population in Xinjiang Uygur Autonomous Region. The GG genotype and G allele in FTO gene rs8057044 in Kazakh population in Xinjiang are associated with increased risk of MS high. The body weight, WC, HC, BMI and AA / GA genotypes of rs8057044GG genotype were significantly different, but there was no significant difference in other locus polymorphism between the two genotypes.