Association of the common rs9939609 variant of FTO gene with polycystic ovary syndrome in Chinese women
Association of the common rs9939609 variant of FTO gene with polycystic ovary syndrome in Chinese women
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FTO基因常见rs9939609变异与中国女性多囊卵巢综合征的关联
DOI：
10.1007/s12020-009-9257-0
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发表时间：
2009-12-01
期刊：
影响因子：
3.7
通讯作者：
Ning, Guang
中科院分区：
文献类型：
--
作者：
Yan, Qun;Hong, Jie;Ning, Guang
脂肪量和肥胖相关（FTO）基因的变异最近与不同种族人群中的肥胖和2型糖尿病有关。鉴于多囊卵巢综合征（PCOS）的表型与肥胖和2型糖尿病重叠，我们推测FTO基因的常见rs 9939609变异与PCOS易感性有关。我们对215例PCOS患者进行了病例对照研究，并以227例健康女性作为对照。我们研究了rs 9939609变异与PCOS易感性之间的关系，以及中国女性PCOS与肥胖相关参数之间的关系。我们观察到PCOS患者和对照组之间的等位基因和基因型分布的显着差异。A等位基因在PCOS患者中的频率显著高于对照组（15.1%vs.9.9%，OR = 1.62，P = 0.019）。PCOS组A等位基因携带者基因型（AA和AT）频率显著高于对照组（28%vs.19%，AT和TT基因型vs. TT基因型，OR = 1.61，P = 0.035）。在Logistic回归分析中，这种关联的强度在校正体重指数（BMI）后减弱（A等位基因与T等位基因，OR = 1.39，P = 0.286; AT和TT基因型与TT基因型，OR = 1.40，P = 0.312）。然而，我们没有发现rs 9939609变异与肥胖相关性状的任何显着关联。总之，FTO基因中的rs 9939609变异与中国人群中的PCOS易感性相关，可能是因为其对BMI的影响。
Variations in the fat mass and obesity-associated (FTO) gene have recently been associated with obesity and type 2 diabetes mellitus among different ethnic populations. Given that the phenotype of polycystic ovary syndrome (PCOS) overlaps with obesity and type 2 diabetes, we hypothesize that the common rs9939609 variant of FTO gene is related to PCOS susceptibility. We performed a case-control association study on 215 women with PCOS, using 227 healthy women as the control. We examined the association between rs9939609 variant and PCOS susceptibility, as well as between PCOS and obesity-related parameters in Chinese women. We observed significant differences in the allelic and genotypic distributions between PCOS patients and the control group. The A allele was significantly more frequent among PCOS patients than in the control population (15.1% vs. 9.9%; A allele vs. T allele, OR = 1.62, P = 0.019). The A allele carrier genotype (AA and AT) frequencies were also significantly greater in PCOS patients than in the controls (28% vs. 19%; AT and TT vs. TT genotype, OR = 1·61, P = 0.035). In logistic regression, the strength of this association was attenuated after adjustment for body mass index (BMI) (A allele vs. T allele, OR = 1.39, P = 0.286; AT and TT genotypes vs. TT genotype, OR = 1.40, P = 0.312). However, we did not find any significant associations of rs9939609 variant with obesity-related traits. In conclusions, the rs9939609 variant in the FTO gene is associated with PCOS susceptibility in the Chinese population, probably because of its effect on BMI.