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FTO Gene Variants Are Associated with PCOS Susceptibility and Hyperandrogenemia in Young Korean Women.

ABSTRACT: The fat mass and obesity-associated (FTO) gene is associated with obesity and type 2 diabetes mellitus. Obesity and insulin resistance are also common features of polycystic ovary syndrome (PCOS). Therefore, the FTO gene might be a candidate gene for PCOS susceptibility. The aim of the present study was to evaluate the effects of FTO gene variants on PCOS susceptibility and metabolic and reproductive hormonal parameters.We recruited 432 women with PCOS (24±5 years) and 927 healthy women with regular menstrual cycles (27±5 years) and performed a case-control association study. We genotyped the single nucleotide polymorphisms rs1421085, rs17817449, and rs8050136 in the FTO gene and collected metabolic and hormonal measurements.Logistic regression revealed that the G/G genotype (rs1421085, 1.6%), the C/C genotype (rs17817449, 1.6%), and the A/A genotype (rs8050136, 1.6%) were strongly associated with an increased risk of PCOS (odds ratio, 2.551 to 2.559; all P<0.05). The strengths of these associations were attenuated after adjusting for age and BMI. The women with these genotypes were more obese and exhibited higher free androgen indices (P<0.05) and higher free testosterone levels (P=0.053 to 0.063) compared to the other genotypes. However the significant differences disappeared after adjusting for body mass index (BMI). When we analyzed the women with PCOS and the control groups separately, there were no significant differences in the metabolic and reproductive hormonal parameters according to the FTO gene variants.The rs1421085, rs17817449, and rs8050136 variants of the FTO gene were associated with PCOS susceptibility and hyperandrogenemia in young Korean women. These associations may be mediated through an effect of BMI.

SUBMITTER: Song DK

PROVIDER: S-EPMC4160584 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature

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FTO Gene Variants Are Associated with PCOS Susceptibility and Hyperandrogenemia in Young Korean Women.

Song Do Kyeong DK Lee Hyejin H Oh Jee-Young JY Hong Young Sun YS Sung Yeon-Ah YA

Diabetes & metabolism journal 20140820 4

<h4>Background</h4>The fat mass and obesity-associated (FTO) gene is associated with obesity and type 2 diabetes mellitus. Obesity and insulin resistance are also common features of polycystic ovary syndrome (PCOS). Therefore, the FTO gene might be a candidate gene for PCOS susceptibility. The aim of the present study was to evaluate the effects of FTO gene variants on PCOS susceptibility and metabolic and reproductive hormonal parameters.<h4>Methods</h4>We recruited 432 women with PCOS (24±5 ye ...[more]

PMID: 25215277

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Project description:BACKGROUND: Acne is a very common skin condition during adolescence and adulthood. Patients with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome, MRKH) treated at the Tübingen University Center for Rare Female Genital Malformations, however, clinically appeared to be less frequently affected by acne. The etiology of MRKH syndrome remains unknown. The only known MRKH-associated mutations are located within the WNT4 gene and lead to an atypical form of MRKH syndrome associated with clinical and biochemical hyperandrogenism. Our study aimed to assess the frequency, severity, and self-evaluation of acne in MRKH patients and to correlate the clinical findings with hormone analyses. METHODS: As part of a cross-sectional longterm follow-up study after laparoscopic assisted creation of a neovagina a questionnaire was sent to 149 MRKH patients aged 16-44 years comprising 26 items concerning prevalence and self-evaluation of acne, and the effects of acne on quality of life. The questionnaire was derived from one used in a former epidemiological study of acne in 4,000 women. Blood for hormone analyses was collected routinely during the clinical visit. RESULTS: Fully completed, evaluable questionnaires were returned by 69/149 (46%) women. Of these respondents, 42 (60.1%) showed hyperandrogenemia without other clinical signs of virilization but only 17 (24.6%) reported acne (8 (11.6%) had physiological acne and 9 (13.0%) clinical acne) and only 10 (14.5%) reported receiving medical treatment for their acne. Effects of acne on quality of life were minor. Only 4 patients (5.8%) with PCOS were identified, among them one with physiological acne, the other three within the acne-free group. CONCLUSIONS: Although hyperandrogenemia is common, acne is significantly less frequent in women with MRKH than reported in the literature for non-MRKH women, and is seldom treated medically. Patients in this study appeared resistant to acne to some extent, possibly due to the sebaceous glands in the acne regions being less sensitive to androgens compared to the normal population. A WNT4 mutation is unlikely to be the main cause of MRKH syndrome in our hyperandrogenemic patients.

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FTO Gene Variants Are Associated with PCOS Susceptibility and Hyperandrogenemia in Young Korean Women.

Publications

FTO Gene Variants Are Associated with PCOS Susceptibility and Hyperandrogenemia in Young Korean Women.

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