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• W2293671929 abstract "Abstract Dyslipidemia is common in polycystic ovary syndrome (PCOS). This study was aimed to investigate whether fatty acid desaturase genes ( FADS ), a dyslipidemia-related gene cluster, are associated with PCOS. We scanned variations of FADS genes using our previous data of genome-wide association study (GWAS) for PCOS and selected rs174570 for further study. The case-control study was conducted in an independent cohort of 1918 PCOS cases and 1889 age-matched controls and family-based study was conducted in a set of 243 core family trios with PCOS probands. Minor allele frequency (allele T) of rs174570 was significantly lower in PCOS cases than that in age-matched controls ( P = 2.17E-03, OR = 0.85), even after adjustment of BMI and age. PCOS subjects carrying CC genotype had higher testosterone level and similar lipid/glucose level compared with those carrying TT or TC genotype. In trios, transmission disequilibrium test (TDT) analysis revealed risk allele C of rs174570 was significantly over-transmitted ( P = 2.00E-04). Decreased expression of FADS2 was detected in PCOS cases and expression quantitative trait loci (eQTL) analysis revealed the risk allele C dosage was correlated with the decline of FADS2 expression ( P = 0.002). Our results demonstrate that FADS1-FADS2 are susceptibility genes for PCOS." @default.
• W2293671929 created "2016-06-24" @default.
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• W2293671929 date "2016-02-16" @default.
• W2293671929 modified "2023-09-24" @default.
• W2293671929 title "FADS1-FADS2 gene cluster confers risk to polycystic ovary syndrome" @default.
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• W2293671929 doi "https://doi.org/10.1038/srep21195" @default.
• W2293671929 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4754766" @default.
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