THE GENETICS OF INSULIN RESISTANCE IN FAMILIES WITH POLYCYSTIC OVARY SYNDROME

作者: Jocelyne Toufic Matar

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摘要: Polycystic ovary syndrome (PCOS) is a familial disorder characterized by major metabolic consequences related to insulin resistance (IR), including T2DM and (MS). There mounting evidence, which supports association of each G-174C variant in IL-6 Pro12Ala PPARλ genes with PCOS-associated biochemical or features hyperandrogenic PCOS adults/adolescents. The aim this study was demonstrate the ability enroll probands, who have one more clinically PCOS-diagnosed woman, their multigenerational family members for total sample size 100-125 IR inflammation markers such families. Additional important aims were test linkage between IL6 genes' loci associations IL6G-174C SNP IR, MS its components, serum levels (IL-6 CRP) testosterone special population defined HOMA-IR value > 3.9 adults values are age-gender specific adolescents. according ATP III diagnostic criteria same criteria, modified age In total, 101 individuals recruited from 9 extended families; eight families Caucasian remaining African American. No evidence PPARγ any examined phenotypes found. However, interesting significant SNP-phenotype found Ala12 allele be negatively associated diastolic blood pressure (DBP) fasting glucose. Moreover, G positively DBP, levels. These particularly because they adjusted covariates known significantly outcome our results variance components test, accounts relationships. findings public health significance, mainly first reported

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