Fat Mass And Obesity Associated Rs9939609 Polymorphism Research Articles

The effect of FTO gene rs9939609 polymorphism on the association between colorectal cancer and different types of dietary fat intake: a case-control study

BackgroundColorectal cancer (CRC) is one of the most common cancers in the world. Some dietary factors such as fat intake have been identified as the risk factors for CRC. This study aimed to investigate the effect of fat mass and obesity-associated (FTO) gene rs9939609 polymorphism on the association between CRC and different types of dietary fats.MethodsThis case-control study was performed on 135 CRC cases and 294 healthy controls in Tehran, Iran. Data on demographic factors, anthropometric measurements, physical activity, the intake of different types of dietary fats, and FTO gene rs9939609 polymorphism was collected from all participants. The association between cancer and dietary fat intake in individuals with different FTO genotypes was assessed using different models of logistic regression.ResultsOleic acid intake was higher in the case group compared to the control group in both people with TT (7.2±3.46 vs. 5.83±3.06 g/d, P=0.02) and AA/AT genotypes (8.7±6.23 vs. 5.57 ±3.2 g/d, P<0.001). Among carriers of AA/AT genotypes of FTO rs9939609 polymorphism, a positive association was found between CRC and higher intakes of oleic acid (OR=1.12, CI95% 1.03–1.21, P=0.01) and cholesterol (OR=1.01, CI95% 1.00–1.02; P=0.01) after adjusting for age, sex, physical activity, alcohol use, smoking, calorie intake, and body mass index.ConclusionHigher intakes of cholesterol and oleic acid were associated with a higher risk of CRC in FTO-risk allele carriers. The association of CRC and dietary fat may be influenced by the FTO genotype. Further longitudinal studies are warranted to confirm these findings.

Assessment of health risks caused by overweight in children depending on the FTO gene rs9939609 polymorphism

In this study, we aimed to estimate the association between the rs9939609 FTO (fat mass and obesity associated) polymorphism and a risk of overweight in children living in the Baikal region. We performed a case – control study that included 113 schoolchildren living in industrial centers of the Baikal region (Irkutsk, Angarsk, and Ulan-Ude). Anthropometric parameters were measured and body mass index was calculated with its values being ranked in accordance with the WHO BMI curves depending on a sex and age. Genotyping of the rs9939609 FTO polymorphism was performed by allele-specific amplification with real-time results detection. To assess likelihood of an association between the FTO gene allele and overweight and obesity, relative risk (RR) and 95 % confidence interval (CI) were calculated. The assessment revealed the A allele of the rs9939609 FTO polymorphism to be by 1.29 times more frequent in the examined children with overweight and obesity (48.44 %) than in the children form the reference group (37.65 %). The FTO rs9939609 polymorphism was authentically associated with likelihood of elevated risks of overweight and obesity in children with the homozygous AA genotype (RR = 2.806, 95 % CI: 1.650–4.772; STD = 0.271). Our study confirms that the rs9939609 polymorphism of the FTO gene is a risk factor of overweight and obesity for children from the Baikal region who have the A allele of the homozygous AA genotype. Prevailing frequency of the TT genotype (29.2 %) as compared with the AA genotype (10.62) is likely due to influence of assimilation processes on urbanized territories in the Baikal region.

Оценка риска избыточной массы тела у детей в зависимости от полиморфизма rs9939609 генa FTO

In this study, we aimed to estimate the association between the rs9939609 FTO (fat mass and obesity associated) polymorphism and a risk of overweight in children living in the Baikal region. We performed a case – control study that included 113 schoolchildren living in industrial centers of the Baikal region (Irkutsk, Angarsk, and Ulan-Ude). Anthropometric parameters were measured and body mass index was calculated with its values being ranked in accordance with the WHO BMI curves depending on a sex and age. Genotyping of the rs9939609 FTO polymorphism was performed by allele-specific amplification with real-time results detection. To assess likelihood of an association between the FTO gene allele and overweight and obesity, relative risk (RR) and 95 % confidence interval (CI) were calculated. The assessment revealed the A allele of the rs9939609 FTO polymorphism to be by 1.29 times more frequent in the examined children with overweight and obesity (48.44 %) than in the children form the reference group (37.65 %). The FTO rs9939609 polymorphism was authentically associated with likelihood of elevated risks of overweight and obesity in children with the homozygous AA genotype (RR = 2.806, 95 % CI: 1.650–4.772; STD = 0.271). Our study confirms that the rs9939609 polymorphism of the FTO gene is a risk factor of overweight and obesity for children from the Baikal region who have the A allele of the homozygous AA genotype. Prevailing frequency of the TT genotype (29.2 %) as compared with the AA genotype (10.62) is likely due to influence of assimilation processes on urbanized territories in the Baikal region.

The effects of FTO gene rs9939609 polymorphism on the association between breast cancer and dietary intake.

Breast cancer (BC) is the leading cause of cancer-related deaths in females worldwide and is related to genetic and environmental factors. Dietary components may strongly influence the risk of BC. A possible association was also reported between the fat mass and obesity-associated (FTO) single-nucleotide polymorphisms (SNPs) and BC. This study aimed to investigate the impact of FTO rs9939609 polymorphism on the association between BC and dietary intake. This study was conducted on 180 women with BC as the case group and 360 healthy women as the control group. The dietary intakes were assessed by a valid 168-item food frequency questionnaire (FFQ). The FTO gene was genotyped for rs9939609 polymorphism. After adjusting the confounding variables, there was no significant association between dietary intake and BC in individuals without risk allele. A positive association between dietary intake of omega-6 fatty acids and BC was found only in individuals with risk allele of FTO gene (OR: 1.31, 95% CI: 1.08-1.60, p: 0.006). FTO gene risk allele may influence the effect of diet on breast cancer risk. Further studies are needed to assess the possible effects of the FTO genotype on the association between BC risk and dietary components.

The effect of FTO rs9939609 polymorphism on the association between colorectal cancer and dietary fiber.

BackgroundGene polymorphisms may explain the controversy on the association between colorectal cancer (CRC) and dietary fibers. The purpose of this study was to investigate the effect of fat mass and obesity-associated (FTO) rs9939609 polymorphism on the association between colorectal cancer and dietary fiber.MethodsThis case-control study was conducted on 160 CRC cases and 320 healthy controls in Tehran, Iran. The participants' food intake was assessed using a semi-quantitative food frequency questionnaire (FFQ). The frequency of rs9939609 FTO polymorphism in the case and control groups was determined using the tetra-primer amplification refractory mutation (tetra-ARMS) method.ResultsIn the participants with the TT genotype of the FTO rs9939609, the cases had higher BMI and lower intake of dietary fiber compared to the controls (P = 0.01). Among A allele carriers of FTO rs9939609 polymorphism, the cases had higher BMI (P = 0.04) and lower intake of total fiber (P = 0.02) and soluble fiber (P = 0.02). An inverse association was found between CRC and dietary fiber intake among those with the AA/AT FTO rs9939609 genotype after adjusting for age, sex, smoking, alcohol consumption, physical activity, BMI, and calorie intake (OR = 0.9, CI 95%:0.84–0.92, P < 0.05).ConclusionThis study found a link between higher dietary fiber consumption and a lower risk of CRC in A-allele carriers of FTO rs9939609 polymorphism. Future studies are needed to identify the underlying mechanisms of the association between CRC and dietary fibers in people with different FTO genotypes.

FTO genotype was associated with breast cancer in HER2 negative patients.

The fat mass and obesity-associated (FTO) gene may influence the risk of breast cancer (BC). The single nucleotide polymorphisms (SNPs) of FTO gene may exert different impacts on different types of BC. In this study, we investigated the association between FTO SNP rs9939609 and the status of estrogen receptor (ER), progesterone receptor (PR), P53, and human epidermal growth factor receptor-2 (HER-2) in BC patients. Our case-control study was included 540 Iranian participants aged 35 to 70 (180 women with BC as the case group and 360 healthy controls). After genotyping for risk allele rs9939609 of the FTO gene, a logistic regression was applied to elucidate the association between FTO SNP rs9939609 and BC risk based on the receptor status. The number of HER-2 negative patients was significantly higher in FTO rs9939609 risk allele carrier group (61.5% vs. 41.4%, P<0.05). A significant association was found between BC and rs9939609 FTO gene polymorphism only in HER2 negative BC patients (OR=1.79, CI95%: 1.2-3.56, P=0.03). No association was identified between FTO rs9939609 polymorphism and the status of ER, PR, and P53. We indicated that FTO SNP rs9939609 can be a potential therapeutic target particularly in HER-2 negative BC cases. The importance of this risk allele in BC pathogenesis needs to be further highlighted.

Genetic Association of FTO rs9939609 Polymorphism with Hypertension in Pakistani Population

Background: Hypertension is a medical condition that often occurs parallel to diabetes and obesity. Previously, the role of fat mass and obesity associated (FTO) gene rs9939609 polymorphism (c.46-23525T&gt;A) with obesity has been reported while prevalence and etiological differences exist among different regions and ethnic groups. Aim: To investigate the association of FTO rs9939609 SNP with hypertension in Pakistani population. Study design: Cross-sectional study. Place and duration of study: Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan from 1st January 2019 to 31st December 2020. Methodology: One hundred and ten diagnosed hypertension patients along with 128 healthy volunteers were selected randomly. The single nucleotide polymorphism was analyzed using Amplified Refractory Mutation System-Polymerase Chain Reaction. Results: In hypertension patients, females were found to be relatively more affected and average blood pressure lies in stage 1. However, we found no significant difference in genotypic frequencies of FTO rs9939609; TT (22.6%), AA (39.6%) and AT (37.8%) and TT (17.18%), AA (39.06%), and AT (43.75%) among HT and controls, respectively. The p and OR values for risk type genotype (AA) are 0.4697 and 0.7700 (95% CI=0.3788-1.565), respectively. Subsequently, the high percentage (60.0 %) of risk genotype (AA) was found in obese-body mass index in hypertension patients. Conclusion: FTO rs9939609 single nucleotide polymorphism may not be a genetic risk factor associated with onset of hypertension directly and is linked with obesity in Pakistani patients. Keywords: FTO, Hypertension, Obesity, Pakistani patients, rs9939609

Are the FTO Gene Polymorphisms Associated with Colorectal Cancer? A Meta-analysis.

Colorectal cancer (CRC) is reported to be associated with some gene polymorphisms. However, the effect of the fat mass and obesity associated (FTO) gene on colorectal cancer is not yet clear. This meta-analysis aimed to investigate the association of the FTO gene polymorphism and colorectal cancer. PubMed, Web of science, Scopus, and Embase were explored to identify the studies investigating the relationship between rs9939609 and rs17817449 polymorphisms of FTO gene and colorectal cancer, and the published papers from 2000 to 2019were collected. This meta-analysis was conducted by using a random-effects model for the best estimation of the desired outcomes. In this study, 1528 studies were initially included and five eligible case-control studies including 13,460 cases and 22,578 controls were eligible for further analyses. No significant association was found between risk allele of FTO rs9939609 (OR = 0.98, 0.87-1.1) and rs17817449 (OR = 0.9, 0.79-1.03) polymorphisms and colorectal cancer risk. The subgroup analyses considering the source of the control group and race found no significant association between FTO polymorphisms and the risk of colon cancer. This study indicated that rs9939609 and rs17817449 FTO gene polymorphisms are not associated with colorectal cancer risk. Individual studies involving different FTO polymorphisms are needed to further evaluation of the associations between the FTO gene and colon cancer.

Associations between FTO rs9939609 polymorphism, serum vitamin D, mental health, and eating behaviors in overweight adults

ABSTRACT Background: Despite the significant role of the Fat Mass and Obesity-Associated (FTO) gene in obesity, the underlying mechanisms are not fully elucidated. Besides, vitamin D deficiency and obesity are mostly seen together, and it can be hypothesized that this nutrient may have an impact in the role of FTO genotype in adiposity. Objective: Thus, this study aimed to investigate the association of FTO rs9939609 gene polymorphism with eating behaviors, eating disorders, and general mental health in overweight adults, considering their vitamin D intake as a mediate confounding factor. Methods: This cross-sectional study was carried out on 197 overweight adults in Shiraz, Iran. Genotyping was performed through amplification refractory mutation system polymerase chain reaction (ARMS PCR). Mental health, vitamin D intake, eating behaviors and disorders were assessed by the validated questionnaires. Results: The risk allele of the FTO rs9939609 polymorphism (A) was significantly associated with a higher risk of eating behavior and mental health disorders (all P < 0.05). After considering vitamin D intake, the AA genotype carriers had significantly higher risks for poorer eating behavior (P = 0.002), mental health (P = 0.007), and general mental health (P = 0.039) compared with the TT carriers if they had insufficient vitamin D intake. Conclusion: In conclusion, these results indicated that the A-allele of the FTO rs9939609 polymorphism may be associated with poorer eating behaviors, mental health, and higher risk of eating disorders. It was also identified that the effect of FTO rs9939609 A risk allele on eating behavior and mental health may be limited to people with insufficient vitamin D intake.

The association of Fat Mass and Obesity-Associated (FTO) gene polymorphism (rs9939609) with metabolic disturbances and response to sofosbuvir, ribavirin and interferon triple therapy in patients with viral hepatitis C

ObjectivesChronic hepatitis C virus (HCV) infection is a major health problem in Egypt. The Fat mass and obesity associated (FTO) gene has metabolic regulatory roles. HCV affects the signaling cascade of insulin. This study aimed to assess the relation of FTO rs9939609 polymorphisms with treatment outcomes and metabolic disturbance in HCV Egyptian patients. Subjects and methodsThe study included 200 HCV genotype 4 patients treated with triple therapy (sofosbuvir, ribavirin and interferon) for 12 weeks. The principal efficiency endpoint was sustained viral response at 12 weeks (HCV RNA < 12 IU/mL) and FTO rs9939609 gene was analyzed by real-time PCR. Fasting serum insulin and alpha-feto protein (AFP) and were measured by ELISA. ResultsPatients response to HCV triple therapy was 93%. Stepwise logistic regression showed that the chance of non-response increases by 7.9% with every unit increase of the AFP value (OR = 1.079, 95% CI = 1.036; 1.124, P < 0.001). There was no correlation between the FTO variant and treatment outcome. There was a significant increase in HOMA-IR in non-responders compared with responder patients. ConclusionFTO rs9939609 variant is not associated with treatment outcome of HCV patients on triple therapy. However, insulin resistance and AFP levels were associated with achievement of successful virological response.

Does vitamin D affect the association between FTO rs9939609 polymorphism and depression?

ABSTRACT Background & objectives: Depression is a highly prevalent and multifactorial psychological disorder. Fat Mass and Obesity-Associated (FTO) gene and the serum vitamin D level are proposed to be involved in pathophysiology of depression. This study aimed to investigate the interactions between one FTO gene single nucleotide polymorphism, depression, and serum vitamin D level in overweight adults. Methods: One hundred and ninety-seven overweight adults were recruited in this cross-sectional study. FTO genotyping was performed by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). Depression severity was assessed using Beck’s depression inventory (BDI-II). Serum vitamin D levels were measured using a direct competitive enzyme-linked immunosorbent assay (ELISA) method. Results: A-allele carriers had higher Beck’s depression score (P = 0.03). Multivariate regression models showed a positive association between the A-allele of FTO rs9939609 polymorphism and depression. Serum vitamin D level had no effect on the association between FTO genotype and depression. Conclusion: A-allele of FTO rs9939609 polymorphism might be associated with depression independent of serum vitamin D level. Further longitudinal studies are needed to confirm these results.

Interactions of anthropometric indices, rs9939609 FTO gene polymorphism and breast cancer: A case-control study.

Contradictory results were reported on the effect of fat mass‐ and obesity‐associated (FTO) gene and anthropometric measurements on breast cancer (BC). This study aimed to assess the interactions between rs9939609 polymorphism of FTO gene, anthropometric indices and BC risk in Iranian women. This case‐control study was performed on 540 women including 180 women with BC and 360 healthy women in Tehran, Iran. Physical activity and dietary intakes were assessed by validated questionnaires. Data on sociodemographic and pathologic factors of the participants as well as their blood samples were collected. The rs9939609 FTO gene polymorphism was genotyped using the tetra‐primer amplification refractory mutation system‐polymerase chain reaction (T‐ARMS‐PCR). No significant association was found between BC and risk allele of FTO rs9939609 polymorphism after adjustments for the confounders. However, there was a significant association between rs9939609 polymorphism risk allele and BC risk in females with overweight, even after adjusting for age, family history of BC, abortion, BMI and the number of pregnancies (P < .05). The association was disappeared after further adjustments for lifestyle factors including smoking, alcohol consumption, calorie and macronutrients intake, and physical activity. The FTO gene polymorphism was associated with the risk of BC in overweight individuals. This association was influenced by environmental factors including diet, alcohol consumption and smoking. Future studies are required to confirm the association between the FTO gene and BC in overweight females and to identify the underlying mechanisms.

In depth analysis of the association of FTO SNP (rs9939609) with the\xa0expression of classical phenotype of PCOS: a Sri Lankan study

BackgroundPCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic derangement in PCOS. We previously identified FTO (rs9939609) as a susceptibility locus for PCOS among Sri Lankan women and also explored the role of kisspeptin. Associated factors of the FTO candidate gene among South Asians with PCOS are unknown.MethodsThis study aimed to determine the association between FTO (rs9939609) polymorphism with clinical (BMI, acanthosis nigricans, hirsutism) and biochemical (serum kisspeptin and testosterone levels) characteristics of PCOS in a cohort of Sri Lankan women. Genetic and clinical data including serum kisspeptin and testosterone concentrations of our previously reported cases (n = 55) and controls (n = 110) were re-analyzed, specifically for an association with rs9939609 variant of FTO gene.ResultsLogistic regression analysis (AA – OR = 5.7, 95% CI = 2.41–13.63, p < 0.05) and genetic inheritance analysis (AA – OR = 5.49, 95%CI = 2.34–12.88, p < 0.05) showed that FTO (rs9939609) polymorphism is significantly associated with PCOS and its metabolic manifestations. Serum testosterone was significantly higher in affected women with mutant genotypes (AA+AT) than with the normal allele (TT) (p < 0.05). Although serum kisspeptin was higher in subjects with PCOS and mutant alleles than controls, this difference was not significant (p > 0.05).ConclusionFTO gene variant rs9939609 is associated with hyperandrogenemia and metabolic manifestations of PCOS among women of Sri Lankan descent with the well-characterized phenotype. Serum kisspeptin and the FTO genotypes lack a significant association when adjusted for confounders.

Obesity in the Balinese is associated with FTO rs9939609 and rs1421085 single nucleotide polymorphisms.

Obesity prevalence is increasing worldwide, including in the Bali Province, Indonesia, a popular tourism destination area. The common single nucleotide polymorphisms (SNPs) rs9939609 and rs1421085 of the fat mass and obesity-associated (FTO) gene have been repeatedly reported as one of the important obesity genetic risk factors. We have examined the associations of FTO rs9939609 and rs1421085 SNPs with obesity in the 612 unrelated Balinese subjects living in urban and rural areas. Linear and logistic regression analyses with adjustment for age and gender were employed to investigate the association between FTO genotypes, haplotypes and obesity parameters. We found that the FTO SNPs genotypes increased BMI by 1.25 kg/m2 (p = 0.012) for rs9939609 AA and 1.12 kg/m2 (p = 0.022) for rs1421085 CC, particularly in females and in rural population. Subjects carrying these genotypes also showed a tendency to maintain high BMI, regardless of their age. Our result showed that the FTO rs9939609 and rs1421085 risk alleles were associated with increased BMI and obesity in the Balinese.

Association of FTO common variant (rs9939609) with body fat in Turkish individuals

BackgroundVariations in the fat mass and obesity-associated (FTO) gene (16q12.2) are associated with obesity in some populations. This study aimed to determine the relationship between FTO gene polymorphism and adiposity&related markers in Turkish adults was aimed.MethodsThe present study included 200 participants aged 18–65 years, who were genotyped for variants of the FTO gene (rs9939609). Anthropometric measurements were performed. Body compositions were analyzed with Tanita BC 545 N Inner ScanTM. Infrared analyzer (VISCANTM) was also used to determinate the degree of abdominal fat. Body mass index (BMI), body adiposity index (BAI) and lipid accumulation products (LAP) index which are used in body fat estimation were calculated. Body fat amounts were classified using gender-based cut-offs. Odds ratio (OR) and 95% confidence interval (CI) were calculated to determine the risk of having a high body fat amount associated with the risk allele.ResultsThe frequency of the rs9939609 AA genotype was 19.0%, which was 42.5% for the AT genotype and 38.5% for the TT genotype (wild type). AA genotype was found to be higher in females than in males (26.0 and 12.0%, respectively). The total body fat amount of the individuals with AA genotype was high (28.5 ± 9.25%) compared to AT (27.0 ± 10.31%) and TT (23.7 ± 10.62%) genotype (p < 0.05). However, there was no difference in abdominal fat amounts (%) (AA:38.6%, AT:36.2%, TT:33.7%), internal fat levels and waist/hip ratios (p > 0.05). Significance of association between FTO genotypes and total body fat (%) was retained after adjustment for BMI and gender as well. BMI, LAP, and BAI index values were not different between different genotypes in all individuals and different genders (p > 0.05).ConclusionOur study supports that the FTO rs9939609 polymorphism is associated with fat accumulation in the whole body without being associated with abdominal fat accumulation in Turkish adults.

Interaction effects of FTO rs9939609 polymorphism and lifestyle factors on obesity indices in early adolescence

BackgroundThe rs9939609 SNP in fat mass and obesity-associated (FTO) gene influence obesity, whose effects might be mediated by lifestyle factors. However, evidence was lacked in early adolescents. This study aimed to investigate the interactions effects of FTO rs9939609 and lifestyle factors on obesity indices in early adolescence. MethodsThe study included 1149 children aged 10–12 years. Their body mass index (BMI) and body fat percentage (BF%) were measured, and lifestyle factors were surveyed through questionnaires. The rs9939609 SNP in the FTO gene was genotyped. ResultsSignificant associations were found between FTO rs9939609 and obesity indices after adjusting for confounding factors. An interaction effect between rs9939609 and soft drinks was observed with p=0.019 for BMI after adjustment for confounding factors. The children carrying risk allele A had a significantly higher mean BMI (mean=19.67kg/m2) than those carrying only the wild allele T (mean=17.987kg/m2) when they reported a higher intake of soft drinks (≥3 times/week), but the association was not observed among children with a lower intake of soft drinks. No significant interactions were established between appetite, weekday TV viewing, sleep, exclusive breast feeding in the first four months and FTO rs9939609 on BMI or BF%. Bioinformatics revealed that rs9939609 and its linkage disequilibrium (LD) SNPs are potentially implicated in the regulation of gene expression in blood, pancreatic and brain tissue cells. ConclusionFTO rs9939609 had an obvious and independent effect on obesity-related indices in early adolescents. Soft drinks may exert a modifying effect on the relationship between FTO rs9939609 and BMI.

Association of Omentin rs2274907 and FTO rs9939609 gene polymorphisms with insulin resistance in Iranian individuals with newly diagnosed type 2 diabetes

BackgroundInsulin resistance (IR) and fat accumulation in visceral adipose tissue are key players in developing type 2 diabetes (T2D). Several adipose tissue derived-gene polymorphisms are related to higher body mass index (BMI), insulin resistance and T2D. The association of omentin rs2274907 (Val109Asp) and fat-mass and obesity-associated (FTO) rs9939609 gene polymorphisms with overweight/obesity and T2D is controversial. The aim of this study was to determine the association between omentin Val109Asp and FTO rs9939609 polymorphisms and insulin resistance in newly-diagnosed T2D patients.MethodsThe case-control study included 83 newly-diagnosed T2D patients and 85 healthy matched controls, aged 20–80 years. Fasting blood glucose and insulin levels were measured by the enzymatic method and enzyme-linked-immunosorbent assay, respectively. Insulin resistance was calculated using the homeostasis model assessment (HOMA) index. Genotyping was examined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).ResultsThere are significant differences between both omentin Val109Asp and FTO rs9939609 polymorphisms and studied individuals (P = 0.011 and P = 0.0001, respectively). Both genetic polymorphisms of omentin Val109Asp and FTO rs9939609 (T/A) are significantly related to higher HOMA index (P = 0.030 and P = 0.046, respectively). However, omentin Val109Asp polymorphism was only related to individuals who were overweight/obese. Additionally, both omentin Val109Asp and FTO rs9939609 polymorphisms were significantly positively correlated to familial history of diabetes (P = 0.046 and P = 0.024, respectively).ConclusionsOmentin V109D and FTO rs9939609 genetic variations may change insulin metabolism and have key roles in developing T2D through insulin resistance. Thus, the evaluation of these polymorphic regions may be helpful for predicting type 2 diabetes.

Evaluation of FTO rs9939609 and MC4R rs17782313 Polymorphisms as Prognostic Biomarkers of Obesity: A Population-based Cross-sectional Study.

ObjectivesObesity is a significant risk factor for a number of chronic diseases, including diabetes, cardiovascular diseases, and cancer. Obesity usually results from a combination of causes and contributing factors, including genetics and lifestyle choices. Many studies have shown an association of single nucleotide polymorphisms (SNPs) in the fat mass and obesity-associated (FTO) and the melanocortin-4 receptor (MC4R) genes with body mass index (BMI). Therefore, recognizing the main genes and their relevant genetic variants will aid prediction of obesity risk. The aim of our study was to investigate the frequency of rs9939609 and rs17782313 polymorphisms in FTO and MC4R genes in an Iranian population.MethodsWe enrolled 130 obese patients and 83 healthy weight controls and calculated their BMI. Genomic DNA was extracted from peripheral blood and the frequency of rs9939609 and rs17782313 polymorphisms in FTO and MC4R genes was determined using the tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR).ResultsSignificant associations were found between FTO rs9939609 and BMI. Where homozygous risk allele carriers (A-A) have significant higher odds ratio (OR) of being obese than individuals with normal BMI (OR = 6.927, p < 0.005, 95% confidence interval (CI): 3.48–13.78). No significant correlation between MC4R rs17782313 and obesity were observed when compared to healthy weight individuals. Although subjects with C-C genotype had higher odds of obesity (OR = 1.889, p = 0.077, 95%CI: 0.92–3.84).ConclusionsThis study shows a relationship between FTO polymorphism and increased BMI, therefore, SNP in the FTO gene influence changes in BMI and can be considered a prognostic marker of obesity risk.

Gene Polymorphisms of Human FTO and Obesity in Part of Iranian Population

As obesity is a multifactorial characteristic, identifying genetic risk factors can help to prevent obesity prevalence. In 2007, FTO (fat mass and obesity associated) gene was identified according to genome-wide association study. Several studies revealed that FTO polymorphisms are responsible for the risk of obesity. The primary objective of our study was assessment of FTO rs9939609 and rs9926289 polymorphisms as risk factors of obesity in part of the Iranian population. In our case–control study, 62 patients with obesity and 75 controls were selected according to their BMI (obese: BMI ≥ 30 kg/m2 and control: BMI: 18.5-24.9 kg/m2). Blood samples were collected from individuals for biochemical parameters assessment and genotyping analysis. After genotyping by high resolution melting (HRM) technique, the odds ratio was used to examine the relationship between the risk factors and the disease; 95% of confidence interval was used for these calculations. The difference in the age, FBS, triglycerides, total cholesterol, and BMI between individuals with obesity and the control group was significant. The analysis of rs9939609 FTO gene showed significant association between the AA+TA genotype and TT according to the dominant model. No association was observed for genotypes of the FTO rs9926289 polymorphism. In addition, there was no significant correlation of biochemical parameters and dominant model genotypes of rs9939609 polymorphisms. Our study suggests that FTO rs9939609 polymorphisms appear to be associated with obesity in part of the Iranian population. AA+TA genotype of rs9939609 polymorphism is a risk factor of obesity. However, further examination should be carried out on large populations.

Fat mass and obesity-associated gene rs9939609 polymorphism is a potential biomarker of recurrent venous thromboembolism in male but not in female patients

Multiple genetic variations have been identified in FTO (fat mass and obesity-associated) gene. Among them, FTO rs9939609 polymorphism is shown to be associated with the risk of primary venous thromboembolism (VTE). However, its role in recurrent VTE is not known. The aim of our study was to investigate the association between FTO rs9939609 polymorphism and the risk of VTE recurrence in a prospective follow-up study in both male and female patients. FTO rs9939609 polymorphism (T/A) was analyzed in the Malmö thrombophilia study (MATS, followed for ~10 years) by using TaqMan PCR. MATS patients (n = 1050) were followed from the discontinuation of anticoagulant treatment until diagnosis of VTE recurrence or the end of follow-up. A total of 126 patients (12%) had VTE recurrence during follow-up. Cox regression analyses showed that sex modified the potential effect of FTO rs9939609 polymorphism on VTE recurrence. Male patients with the AA genotype for the FTO rs9939609 polymorphism had significantly higher risk of VTE recurrence as compared to the TT or AT genotypes (univariate hazard ratio [HR] = 2.05, 95% confidence interval [CI] = 1.2–3.5, P = 0.009 and adjusted HR = 2.03, 95% CI 1.2–3.6, P = 0.013). There was no association between FTO rs9939609 polymorphism and VTE recurrence in female patients. In conclusion, our results show that FTO rs9939609 polymorphism in recurrent VTE may differ according to gender and FTO polymorphism may predict VTE recurrence in male patients.