In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study

Branavan, Umayal; Wijesundera, Sulochana; Chandrasekaran, Vishvanath; Arambepola, Carukshi; Wijeyaratne, Chandrika

doi:10.1186/s12881-020-0961-1

Cited by 14 publications

(2 citation statements)

References 45 publications

(60 reference statements)

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“…The FTO rs9939609 was associated with hyperandrogenism and the metabolic manifestations of PCOS in women of Sri Lankan origin. The A risk allele of SNP rs9939609 has been shown to increase the susceptibility to PCOS, and serum adiponectin and leptin were independent markers of PCOS diagnosis, which depended on BMI status (56) . The risk alleles of both rs9939609 (TA/AA) and rs8050136 (AA/AC) in FTO gene were proposed to be associated with higher fasting glucose levels in Brazilian women (57) .…”

Section: Fto and Polycystic Ovary Syndromementioning

confidence: 99%

FTO: a critical role in obesity and obesity-related diseases

Yin

Liao

et al. 2023

Br J Nutr

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In recent years, obesity is a growing pandemic in the world and has likely contributed to increasing the incidence of obesity related diseases. Fat mass and obesity associated gene (FTO) is the first gene discovered which has close connection with fat. Recent studies suggested FTO gene has played an important role in the molecular mechanisms of many diseases. Obesity is considered to be a hereditary disease and it can evoke many kinds of diseases, including polycystic ovary syndrome (PCOS), type 2 diabetes mellitus (T2DM), cancer, etc., whose exact possible molecular mechanisms responsible for the effect of FTO on obesity and obesity related diseases remain largely unknown. In this review, we comprehensively discuss the correlation between FTO gene and obesity, cancer, PCOS, T2DM, as well as the molecular mechanism involved in these diseases.

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Section: Fto and Polycystic Ovary Syndromementioning

confidence: 99%

FTO: a critical role in obesity and obesity-related diseases

Yin

Liao

et al. 2023

Br J Nutr

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“…Strong association of rs17817449 with obesity/raised BMI has been reported in European, Korean, Egyptian and North Indian cohorts, whereas African Americans lacked its association with obesity [58][59][60][61][62][63]. The rs9939609 SNP is among widely screened genetic variants in different population cohorts worldwide and is considered as a candidate marker for obesity screening [64][65][66][67]. This variant has attracted particular interest of obesity researchers because of its strongest BMI increasing effect [68,69].…”

Section: Plos Onementioning

confidence: 99%

Risk variants of obesity associated genes demonstrate BMI raising effect in a large cohort

et al. 2022

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Obesity is highly polygenic disease where several genetic variants have been reportedly associated with obesity in different ethnicities of the world. In the current study, we identified the obesity risk or protective association and BMI raising effect of the minor allele of adiponectin, C1Q and collagen domain containing (ADIPOQ), cholesteryl ester transfer protein (CEPT), FTO alpha-ketoglutarate dependent dioxygenase (FTO), leptin (LEP), and leptin receptor (LEPR) genes in a large cohort stratified into four BMI-based body weight categories i.e., normal weight, lean, over-weight, and obese. Based on selected candidate genetic markers, the genotyping of all study subjects was performed by PCR assays, and genotypes and allele frequencies were calculated. The minor allele frequencies (MAFs) of all genetic markers were computed for total and BMI-based body weight categories and compared with MAFs of global and South Asian (SAS) populations. Genetic associations of variants with obesity risk were calculated and BMI raising effect per copy of the minor allele were estimated. The genetic variants with higher MAFs in obese BMI group were; rs2241766 (G = 0.43), rs17817449 (G = 0.54), rs9939609 (A = 0.51), rs1421085 (C = 0.53), rs1558902 (A = 0.63), and rs1137101 (G = 0.64) respectively. All these variants were significantly associated with obesity (OR = 1.03–4.42) and showed a high BMI raising effect (β = 0.239–0.31 Kg/m2) per copy of the risk allele. In contrast, the MAFs of three variants were higher in lean-normal BMI groups; rs3764261 A = 0.38, rs9941349 T = 0.43, and rs7799039 G = 0.40–0.43). These variants showed obesity protective associations (OR = 0.68–0.76), and a BMI lowering effect per copy of the protective allele (β = -0.103–0.155 Kg/m2). The rs3764261 variant also showed significant and positive association with lean body mass (OR = 2.38, CI = 1.30–4.34). Overall, we report six genetic variants of ADIPOQ, FTO and LEPR genes as obesity-risk markers and a CETP gene variant as lean mass/obesity protective marker in studied Pakistani cohort.

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