FTO gene variants are not associated with polycystic ovary syndrome in women from Southern Brazil

Ramos, Ramon Bossardi; Spritzer, Poli Mara

doi:10.1016/j.gene.2015.01.012

Cited by 30 publications

(35 citation statements)

References 36 publications

(47 reference statements)

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“…The mechanism underlying the association of the FTO gene polymorphism with PCOS risk remains unclear. However, some studies have reported that FTO gene influence PCOS mainly via the association with obesity or obesity-related parameters such as BMI (Tan et Ramos et al, (2015) showed no association between SNPs in FTO and PCOS phenotype. The observed discrepancies may be due to variation in study design, sample size, demographic, ethnicity and genetic characteristics of differing study populations.…”

Section: Discussionmentioning

confidence: 99%

Association between Fat Mass and Obesity Associated (FTO) Gene Polymorphism (rs9939609) and Polycystic Ovary Syndrome (PCOS): A Sri Lankan Study

2018

Dec. 14-15, 2017 Kuala Lumpur (Malaysia)

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Section: Discussionmentioning

confidence: 99%

Association between Fat Mass and Obesity Associated (FTO) Gene Polymorphism (rs9939609) and Polycystic Ovary Syndrome (PCOS): A Sri Lankan Study

2018

Dec. 14-15, 2017 Kuala Lumpur (Malaysia)

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“…Blood pressure was measured after a 10-min rest, with the patient seated, with both feet on the floor and the arm supported at heart level. Two measurements were obtained 10 min apart using an Omron HEM-742INT automatic blood pressure monitor (Rio de Janeiro, Brazil) with the correct cuff size for the arm diameter [ 26 – 29 ]. MetS and the cutoffs for its isolated components were defined in accordance with the Joint Scientific Statement [ 30 ].…”

Section: Methodsmentioning

confidence: 99%

Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome: a cross-sectional study

Santos

Lecke

Spritzer

2018

Reprod Biol Endocrinol

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BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors. Lower vitamin D levels have been detected in PCOS women and related to hormone and metabolic disturbances. Vitamin D acts in tissues through the vitamin D receptor (VDR). VDR gene variants have been associated with worse metabolic profile in the general population. We investigated the genotype and haplotype distribution of the Bsm-I (rs1544410), Apa-I (rs7975232), and Taq-I (rs731236) VDR gene polymorphisms in PCOS and non-hirsute women from southern Brazil. We further investigated the associations of these gene variants and their haplotypes with PCOS, vitamin D levels, and metabolic abnormalities, including the metabolic syndrome (MetS).MethodsA group of 191 women with PCOS (Rotterdam criteria) and 100 non-hirsute controls with regular ovulatory cycles were genotyped for all polymorphisms by real-time PCR, with allelic discrimination assays. MetS and the cutoffs for its isolated components were defined in accordance with the Joint Scientific Statement.ResultsWomen with PCOS were younger and had significantly higher BMI and total testosterone levels than controls (p < 0.05). The frequency of MetS in PCOS and controls was 26.5% and 4.8% respectively. The CC genotype of Apa-I entailed higher risk of MetS in PCOS (OR: 2.133; 95% CI 1.020–4.464, p = 0.042), and was associated with higher systolic blood pressure (p = 0.009), total cholesterol (p = 0.040), and LDL-cholesterol (p = 0.038) in both PCOS and control groups (two-way ANOVA). The frequencies of VDR haplotypes were similar in PCOS and control women.ConclusionsThe present results suggest that the Apa-I variant in VDR gene may be associated with MetS in southern Brazilian women with PCOS, and with blood pressure, total cholesterol, and LDL-c in women with and without PCOS.

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“…Recent studies identified a common SNP (rs9939609) in the first intron of the FTO gene with a T-to-A change in PCOS cases. However, whether FTO gene polymorphisms participate in PCOS is still controversial ( 40 , 41 , 42 , 43 , 44 , 45 , 46 ). A recent meta-analysis indicated that the FTO rs9939609 polymorphism is related to the risk of PCOS in East Asians rather than the overall population ( 47 ).…”

Section: Fto Polymorphismsmentioning

confidence: 99%

Potential genetic polymorphisms predicting polycystic ovary syndrome

Yao

Fang

2018

Endocrine Connections

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Polycystic ovary syndrome (PCOS) is a heterogenous endocrine disorder with typical symptoms of oligomenorrhoea, hyperandrogenism, hirsutism, obesity, insulin resistance and increased risk of type 2 diabetes mellitus. Extensive evidence indicates that PCOS is a genetic disease and numerous biochemical pathways have been linked with its pathogenesis. A number of genes from these pathways have been investigated, which include those involved with steroid hormone biosynthesis and metabolism, action of gonadotropin and gonadal hormones, folliculogenesis, obesity and energy regulation, insulin secretion and action and many others. In this review, we summarize the historical and recent findings in genetic polymorphisms of PCOS from the relevant publications and outline some genetic polymorphisms that are potentially associated with the risk of PCOS. This information could uncover candidate genes associating with PCOS, which will be valuable for the development of novel diagnostic and treatment platforms for PCOS patients.

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FTO gene variants are not associated with polycystic ovary syndrome in women from Southern Brazil

Abstract: Our findings indicate that neither the FTO rs9939609 and rs8050136 polymorphisms nor its haplotypes are related to PCOS, but suggest an association between the presence of risk alleles of SNPs rs9939609 and rs8050136 in FTO and glucose levels in women from Southern Brazil.

Cited by 30 publications

References 36 publications

Association between Fat Mass and Obesity Associated (FTO) Gene Polymorphism (rs9939609) and Polycystic Ovary Syndrome (PCOS): A Sri Lankan Study

Association between Fat Mass and Obesity Associated (FTO) Gene Polymorphism (rs9939609) and Polycystic Ovary Syndrome (PCOS): A Sri Lankan Study

Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome: a cross-sectional study

Potential genetic polymorphisms predicting polycystic ovary syndrome

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