FTO Gene Polymorphism Research Articles

RISK FACTORS FOR CARDIOVASCULAR DISEASES (DEPRESSION, OVERWEIGHT/OBESITY) AND THE ROLE OF FTO GENE POLYMORPHISM IN THEIR COMORBIDITY AMONG 25–34 YEAR-OLD INDIVIDUALS

HighlightsObesity and depression are a growing global public health problem affecting people of all ages and socioeconomic status. They are independently among the major risk factors for cardiovascular disease. In terms of biological mechanisms, genetic risk factors have been proposed as a potential factor associated with the comorbidity of depression and obesity. Significant correlations were found between the A/A rs9939609 genotype of the FTO gene and both depression and overweight/obesity compared to non-depressed and normal weight A/T+T/T genotypes in young individuals. Our findings will provide a useful starting point for understanding the biological mechanism involved in the association between obesity and depression in the population.AbstractAim. To analyze the relationship between the rs9939609 T>A genotypes of the FTO gene, depression and overweight/obesity as risk factors for cardiovascular diseases among young people aged 25–34 residing in Novosibirsk.Methods. The population-based study included Novosibirsk residents aged 25–34, the study was conducted in 2013–2016 within the framework of the research topic FWNR-2024-0002. 975 people (43.7% men, Caucasians) were screened, the response rate was 71%. Demographic and social data and anthropometry were collected. All study participants took the “MONICA-MOPSY” psychosocial questionnaire. Genotyping of the FTO gene polymorphism was carried out at the Research Institute of Therapeutic Microbiology and Microbiology, a branch of the Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk.Results. The distribution of the A/A rs9939609 genotype of the FTO gene was higher in both the overweight (36.8%) and obese (45.6%) groups compared to the normal BMI group (17.5%). The distribution of the T/T genotypes was higher in the normal BMI group (51.6%) compared to the overweight (32%) and obese (16.4%) groups. The average BMI (body mass index) values were higher among carriers of the A/A genotype (30.4 ± 7.4 kg/m2) compared to carriers of the A/T (26.4 ± 5.2 kg/m2) and T/T (25.2 ± 5.2 kg/m2) genotypes (p < 0.001). The average depression scores were higher among carriers of the A/A genotype 4.4 ± 2.6, compared to carriers of the A/T genotype 3.1 ± 2.2 and T/T 2.9 ± 2.0 (p < 0.001). Carriage of the A/A genotype of the FTO gene was a predictor of both depression (OR = 3.267; 95% CI 1.770–6.030; p < 0.001) and overweight/obesity (OR = 2.208; 95% CI 1.228–9.777; p < 0.001) compared to carriers of the A/T+T/T genotypes without depression and with normal body weight.Conclusion. The results established the role of the A/A rs9939609 polymorphism of the FTO gene in the comorbidity of depression and obesity.

Association between FTO gene polymorphism and obesity in down syndrome children

Children with Down syndrome (DS) have a higher incidence of overweight and obesity compared to typically developing peers. The fat mass and obesity-associated gene (FTO) is one of the early identified genes linked to obesity in various populations. To date, the FTO rs17817449 gene polymorphism has not been investigated in overweight/obese-DS (ODS) individuals. The current study aimed to explore the potential association between the FTO rs17817449 gene polymorphism and obesity-related markers, and to evaluate the ability of this polymorphism in the prediction of overweight/obesity in DS children and adolescents. This case-control study included 100 DS children under the age of 18, classified into three groups according to BMI-percentile; 50 non-obese DS (NODS), 24 overweight DS, and 26 ODS. Genotyping of FTO gene rs17817449 polymorphism was performed using the restriction fragment length polymorphism (RFLP-PCR) method. Serum lipid and thyroid profiles were also assessed. The results revealed significant increase in the frequency of the FTO rs17817449 T allele among overweight /ODS children compared to NODS children (p=0.0099). Overweight/ODS children exhibited significantly higher frequencies of the FTO rs17817449 GT and TT genotypes compared to NODS children.Conclusion:There is an association between FTO rs17817449 genetic variant and overweight/obesity among the studied DS groups. The FTO rs17817449 GT and TT genotypes, as well as TGs level, were identified as independent risk factors for predicting overweight and obesity in DS children.What is Known:• Overweight and obese-DS (ODS) children displayed higher BMI and atherogenic lipid profile than non-obese DS children (NODS). FTO gene polymorphism rs17817449 contributes to obesity development in general population, but there is conflicting information about the risk allele.What is New:• FTO rs17817449 TT genotype and T allele were considered as independent risk factors for overweight and obesity development in DS children, so they could be used for obesity prediction in DS children.

Effect of FTO Gene polymorphism on anthropometric, hemodynamic, and autonomic variables in adolescents

Objective: The study aimed to analyze the influence of physical activity levels and the rs9939609 polymorphism (FTO gene) on anthropometric, hemodynamic, and cardiac autonomic variables in public school students. Methods: A total of 288 students (aged 11 to 18, both sexes) from public schools in São Luís, Maranhão, were divided into four groups: sedentary AA+AT (AA+AT sed), active AA+AT (AA+AT activ), sedentary TT (TT sed), and active TT (TT activ). Evaluations included the International Physical Activity Questionnaire, weight, height, body mass index (BMI), buccal cells collection for DNA extraction, systolic (SBP) and diastolic (DBP) blood pressure measurements, and heart rate variability (HRV) analysis. A chi-square test for allelic associations was applied a 5% significance level. Results: No significant differences were observed in DBP or heart rate (HR). The active groups (AA+AT activ and TT activ) exhibited reductions in weight and METs/min/week compared to their respective sedentary groups (P<0.05). The TT activ group also demonstrated reductions in SBP and BMI compared to the TT sed group (P<0.05). The TT activ group had higher HRV in the RR time domain (ms) compared to the TT sed group (P<0.05), though no significant differences were found in other HRV variables. Conclusions: The FTO gene polymorphism influences cardiac autonomic modulation, while physical activity levels affect anthropometric variables.

FTO gene polymorphism and susceptibility to polycystic ovary syndrome: A meta-analysis.

To explore the correlation between Fat mass and objectivity associated gene (FTO) rs9939609 polymorphism and susceptibility to polycystic ovary syndrome. Case-control studies on the relationship between FTO rs9939609 A/T polymorphism and PCOS were searched in PubMed, EMBASE, and Web of Science according to inclusion and exclusion criteria. STATA 12.0 software was conducted for Meta-analysis. Nine case-control studies were included, including 1410 cases in PCOS group and 1223 cases in healthy control group. The results of meta-analysis showed that FTO rs9939609 gene polymorphism was associated with PCOS susceptibility, and the risk of developing PCOS was 1.19 times higher for T alleles carriers than for A alleles carriers, and some similar associations were observed in Asian populations. In summary, FTO rs9939609 gene polymorphism is significantly associated with PCOS susceptibility, especially in Asian populations.

Gender-specific associations among neck circumference, the rs9939609 FTO gene polymorphism, and the 14-year risk of metabolic syndrome in the Korean adult population.

Limited data exist on the relation between neck circumference (NC) and the risk of developing metabolic syndrome (MS). This study investigated gender-specific associations between NC and the 14-year risk of MS and explored the impact of the FTO rs9939609 polymorphism on these associations. This population-based prospective cohort study involved 2,666 participants (1,301 men and 1,365 women), who were free of MS at baseline (2005-2006). Incident MS cases, defined by the presence of 3 or more criteria regarding blood pressure and blood levels of glucose, triglycerides, and high-density lipoprotein cholesterol, were identified through biennial examinations until 2020. NC measurements taken at baseline and between 2013 and 2014 were analyzed using Cox proportional hazard regression to determine gender-specific associations with MS risk. Controlling for potential confounders such as waist circumference (WC), significant associations were observed in both genders. Individuals in the highest NC quartile exhibited more than a 2-fold higher MS risk than those in the lowest quartile; with hazard ratios of 2.37 (95% confidence interval [CI], 1.74 to 3.22) for men and 2.65 (95% CI, 1.89 to 3.72) for women (p for trend <0.001). No significant interaction was found between the FTO polymorphism and NC. In diagnostic test analyses, NC and WC demonstrated comparable area under the curve values in both genders. The findings suggest that NC is as effective as WC for predicting the incidence of MS.

The relationship of energy-restricted diet with FTO and MC4R gene polymorphism in patients with polycystic ovary syndrome

Purpose: The aim of this study was to determine whether the effects of an energy-restricted diet on overweight/obese patients with PCOS on body composition and biochemical parameters in groups with MC4R rs17782313 and FTO rs9939609 polymorphisms differ from those without gene polymorphism. Materials and Methods: A total of 48 women aged 18-45 were accepted. An 8-week diet intervention was applied, and anthropometric measurements, biochemical parameters and food consumption of the patients were determined before and after the intervention. In addition, FTO gene rs9939609 and MC4R gene rs17782313 polymorphisms were determined. Results: The incidence of FTO and MC4R gene polymorphism was 72.9% and 68.8% respectively. Change in waist/height ratio was found to be higher in the group without FTO gene polymorphism (-0.03±0.015 cm) compared to the group with gene polymorphism (-0.02 ±0.016 cm). There was no statistically significant difference between the groups with and without MC4R gene polymorphism in terms of change (Δ) in anthropometric measurements. Although not statistically significant, there was a greater decrease in body weight (kg) and BMI (kg/m2) in the group without MC4R gene polymorphism compared to the group with it (without polymorphism group -2.2±1.83 kg; -0.9±0.69 kg/m2). There was no statistically significant difference between the groups with and without gene polymorphism in terms of biochemical parameters. Conclusion: We found that the energy-restricted weight loss diet did not detect a statistically significant change in biochemical parameters in the FTO and MC4R gene polymorphism groups, but the presence of gene polymorphism made it difficult to improve in anthropometric measurements.

Genetic association of FTO gene polymorphisms with obesity and its related phenotypes: A case-control study.

FTO gene belongs to the non-heme Fe (II) and 2 oxoglutarate-dependent dioxygenase superfamily. Polymorphisms within the first intron of the FTO gene have been examined across various populations, yielding disparate findings.The present study aimed to determine the impact of two intronic polymorphisms FTO 30685T/G (rs17817449) and -23525T/A (rs9939609) on the risk of obesity in Punjab, India. Genotypic and biochemical analysis were done for 671 unrelated participants (obese=333 and non-obese=338) (age≥18 years). Genotyping of the polymorphisms was done by PCR-RFLP method. However, 50% of the samples were sequenced by Sanger sequencing. Both the FTO variants 30685 (TT vs GG: odds ratio (OR), 2.30; 95% confidence interval (CI), 1.39-3.79) and -23525 (TT vs AA: odds ratio (OR), 2.78; 95% confidence interval (CI), 1.37-5.64) showed substantial risk towards obesity by conferring it 2 times and 3 times, respectively. The analysis by logistic regression showed a significant association for both the variants 30685T/G (rs17817449) and -23525T/A (rs9939609) (OR=2.29; 95%CI: 1.47-3.57) and (OR=5.25; 95% CI: 2.68-10.28) under the recessive genetic model, respectively. The haplotype combination TA (30685; -23525) develops a 4 times risk for obesity (P=0.0001). Among obese, the G allele of 30685T/G and A- allele of -23525T/A showed variance in Body mass index (BMI), waist circumference (WC), waist-to-height ratio(WHtR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and triglyceride(TG). The present investigation indicated that both the FTO 30685T/G (rs17817449) and -23525T/A (rs9939609) polymorphisms have a key impact on an individual's vulnerability to obesity in this population.

FTO gene polymorphisms rs9939609 and the risk of obesity among adults in Western and Asian countries: A systematic review and meta-analysis

BackgroundThe FTO gene polymorphisms rs9939609 have been linked to obesity. It’s essential to note that genetic variations exist between different populations. This study aims to assess the correlation between FTO gene polymorphisms rs9939609 and the risk of obesity in adult populations from both Western and Asian countries. MethodsThis research employed meta-analysis, conducting a comprehensive search across articles available in ProQuest, EBSCO, and PubMed from January 2013 to January 2024. Pooled Odds Ratio (POR) with 95 % CI were computed based on the collected data. Review Manager (RevMan) 5.4.1 and Stata 16.0 were employed for data analysis. ResultsIn Western compared to Asian countries, the FTO rs9939609 variant was found to be significantly associated with obesity in various genetic models: dominant (POR = 1.45 vs 1.45), recessive (POR = 1.33 vs 1.51), co-dominant (first model, POR = 1.56 vs 1.70; second model, POR = 1.30 vs 1.37), and allelic (POR = 1.61 vs 1.56) models. Moreover, in Western countries, the FTO rs9939609 variant’s association with obesity was homogeneous in the recessive and first co-dominant genetic models. In Asian countries, the association between FTO rs9939609 and obesity was homogeneous in the dominant, recessive, and co-dominant genetic models (I2<50 %). ConclusionThis study has confirmed that in specific models (such as the recessive and co-dominant models), the correlation between the FTO gene variant rs9939609 and the risk of obesity more significant in Asian countries.

FTO Gene Polymorphism and Physical Activity in Relation to Body Mass Index

The aim of this study was to determine the frequencies of alleles and genotypes of the single nucleotide polymorphism of the FTO gene (rs17817449) and the intensity of physical activity in relation to the BMI of subjects in the student population. Genotyping was performed using the PCR-RFLP method. 94 subjects stated that they were not physically active, 57 subjects were moderately physically active and 52 were intensely physically active. In the total sample, the risk allele G of the investigated polymorphism rs17817449 of the FTO gene had a lower frequency (41.8%) compared to the normal allele T (58.13%). Although a higher frequency of the risk allele G was found in the group of overweight subjects compared to the group with BMI &lt; 25, the difference was not statistically significant (p &gt; 0.05).

Efficacy of a Comprehensive Weight Reduction Intervention in Male Adolescents With Different FTO Genotypes.

The FTO gene polymorphisms may influence the effects of lifestyle interventions on obesity. The present study aimed to assess the influence of the rs9930506 FTO gene polymorphism on the success of a comprehensive weight loss intervention in male adolescents with overweight and obesity. This study was carried out on 96 adolescent boys with overweight and obesity who were randomly assigned to the intervention (n = 53) and control (n = 43) groups. The blood samples of the participants were collected, and the FTO gene was genotyped for the rs9930506 polymorphism. A comprehensive lifestyle intervention including changes in diet and physical activity was performed for 8 weeks in the intervention group. Following the lifestyle intervention, BMI and fat mass decreased significantly in the intervention group compared with the control group (both p < 0.05), while no change was found in weight, height or body muscle percentage between the groups. The participants in the intervention group with the AA/AG genotype and not in carriers of the GG genotype had a significantly higher reduction in BMI (-1.21 vs. 1.87 kg/m2, F = 4.07, p < 0.05) compared with the control group. The intervention in individuals with the AA/AG genotype has been significantly effective in weight loss compared with the control group. The intervention had no association effect on anthropometric indices in adolescents with the GG genotype of the FTO rs9930506 polymorphism. Name of the registry: National Nutrition and Food Technology Research Institute; Trial registration number: IRCT2016020925699N2; Date of registration: 24/04/2016; URL of trial registry record: https://www.irct.ir/trial/21447.

Association of rs9939609 FTO Gene Polymorphism as a Risk Factor of Obesity in Adults

Background: The cause of obesity is an imbalance between the number of calories taken and the amount burned. Obesity is a complex disease. The FTO rs9939609 gene polymorphism is one of the genetic factors that contribute to obesity in addition to environmental factors. Numerous researches have suggested a connection between the prevalence of obesity and the FTO rs9939609 gene polymorphism Aims: The purpose of this study is to ascertain how the FTO rs9939609 gene polymorphism relates to the prevalence of adult obesity. Methods: At the Biomolecular and Genetics Laboratory of the UGJ Faculty of Medicine, an analytical observational study using a case-control design was carried out with 84 participants, 42 subjects in case group, and 42 subjects in control groups. Data were collected utilizing DNA from blood collection, PCR-RFLP for genotyping, and 2.5% electrophoretic gel for visualization. Chi-square was used for data analysis. Results: Findings showed that there is no link between the FTO rs9939609 polymorphism and the prevalence of obesity (p&gt;0.05, OR=0.710). Conclusion: In the Indonesian population, the FTO rs9939609 gene polymorphism is not associated with an increased risk of obesity.

Analysis of Clinical and Genetic Factors of Obesity and Psoriasis Concomitance-The Influence of Body Mass Composition, Prevalence of Mood Disorders, Environmental Factors and FTO Gene Polymorphisms (rs9939609, rs1558902).

The study enrolled 30 overweight or obese adult patients with chronic plaque psoriasis and 30 overweight or obese volunteers (northern Poland region, Caucasian population). Mood disorders, body mass composition by using bioelectrical impedance analysis (BIA) and FTO gene polymorphisms (rs9939609, rs1558902) by tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) were assessed. Results revealed significantly higher visceral adipose tissue levels in psoriatic patients (5.23 ± 2.29 [L] vs. 3.41 ± 1.86 [L]), p = 0.001), especially among men, along with elevated rates of moderate and severe depression (26.67% vs. 6.67% and 13.33% vs. 3.33%, p = 0.048 respectively). Additionally, FTO gene polymorphisms correlated with waist-hip ratio differences in both groups. The study highlights the importance of evaluating body composition beyond body mass index, recognizing its influence on psoriasis and associated conditions like depression. The FTO gene may serve as a potential genetic link between psoriasis and obesity, warranting further research for validation. Adiposity emerges as a key and modifiable risk factor, underscoring the clinical implications of body composition complexities in psoriasis management.

Prevalence, associated factors, and gene polymorphisms of obesity in Tibetan adults in Qinghai, China

ObjectivesTo explore the prevalence and associated factors of obesity in Tibetan adults in Qinghai, China, and to determine the association between the FTO (rs1121980 and rs17817449) and MC4R gene (rs17782313 and rs12970134) polymorphisms with obesity.MethodsA cross-sectional survey was conducted in 2015 in Qinghai to selected Tibetan adults aged 20 to 80 years. Prevalence of obesity (BMI ≥ 28 kg/m2) and overweight (BMI 24 ~ 27.9 kg/m2) were evaluated. Multivariable logistic models were used to determine the associated factors. Pair-matched subjects of obesity cases and normal-weight controls were selected for the gene polymorphism analyses. Conditional logistic models were used to assess the association between gene polymorphisms with obesity. Additive and multiplicative gene-environment interactions were tested.ResultsA total of 1741 Tibetan adults were enrolled. The age- and sex- standardized prevalence of obesity and overweight was 18.09% and 31.71%, respectively. Male sex, older age, heavy level of leisure-time exercise, current smoke, and heavy level of occupational physical activity were associated with both obesity and overweight. MC4R gene polymorphisms were associated with obesity in Tibetan adults. No significant gene-environment interaction was detected.ConclusionThe prevalence of obesity and overweight in Tibetan adults was high. Both environmental and genetic factors contributed to the obesity prevalent.

Association of FTO gene variant rs9939609 with polycystic ovary syndrome from Gujarat, India

BackgroundPolycystic ovary syndrome is a multifactorial endocrine disorder impacting women of reproductive age. Variations within the FTO gene have been linked to both obesity and type 2 diabetes mellitus. Given that PCOS is frequently associated with obesity and compromised glucose tolerance, we investigated the prevalence of the rs9939609 variant within the FTO gene among women diagnosed with PCOS and a control group. Our aim is to uncover potential correlations between this genetic variant, metabolic attributes, and endocrine markers within the Gujarat province of India.MethodWe enrolled a total of 114 participants, (62 individuals diagnosed with PCOS and 52 healthy controls). DNA extraction from venous blood was conducted for all participants. The rs9939609 polymorphism was investigated through tetra-primer amplification refractory mutation system-polymerase chain reaction. Furthermore, we performed biochemical assessments to quantify levels of estradiol, luteinizing hormone (LH), follicle-stimulating hormone (FSH), thyroid-stimulating hormone (TSH), total testosterone, prolactin (PRL), and Dehydroepiandrosterone sulfate (DHEAS). Statistical analyses were carried out utilizing SPSS version 21 (IBM, USA).ResultsThe present study did not reveal any noteworthy association between cases and controls. The frequencies of genotypes and alleles within the cohorts displayed no statistically significant differences (p = 0.25, p = 0.68, and p = 0.78, respectively). The dominant model indicated a modest risk (OR:1.13, 95%CI: 0.55 to 2.38) toward PCOS development. There was a noticeable statistical difference observed in the levels of total testosterone, DHEAS, and BMI between the case and control groups (p < 0.002, p < 0.0002, p < 0.0008). However, no variations in clinical variables were observed among genotypes within the PCOS group.ConclusionThis is the first study to investigate the association of FTO gene polymorphism and PCOS in Gujarati population. Our study findings indicate that the FTO gene variant is not directly linked to the onset of PCOS. However, it appears to exert an influence on metabolic factors such as obesity and insulin resistance. Notably, our results suggest that insulin resistance is more frequently observed among PCOS patients who are obese, as compared to those with non-obese PCOS patients.

FTO gene variants (rs9939609, rs8050136 and rs17817449) and type 2 diabetes mellitus risk: A Meta-Analysis

Background and aimsThere is tremendous increase in type 2 diabetes mellitus (T2DM) worldwide. The impact of FTO gene polymorphisms on the risk of T2DM is not yet clear because of the controversial results of studies. This meta-analysis aimed to better clarify the association between three FTO gene polymorphisms SNPs (rs9939609, rs8050136 and rs17817449) and T2DM in a larger combined population worldwide. Material and methodsA comprehensive search on the PubMed, Science Direct, and Web of Science databases was conducted to identify investigations in relationship between different FTO gene polymorphisms (rs9939609, rs8050136 and rs17817449) and T2DM globally. Published papers from January 2007 to May 2023 were collected. Inclusion criteria are limited to human case-control studies published in English and peer-reviewed, which provided data on the genotype distributions of FTO gene polymorphisms and T2DM risk. Odds ratios (OR) and 95% confidence intervals (CI) were calculated to express the results of the meta-analysis. Potential sources of bias and heterogeneity using Egger's regression analysis were also assessed. ResultsOf 234695 identified articles, forty-eight studies were selected including 36,051 patients with T2DM and 51,266 control subjects. Overall, we found a significant increased risk of T2DM susceptibility and rs9939609 FTO gene polymorphism in the Allele contrast (A vs. T: OR = 1,30, 95% CI = 1.14; 1.48, P < 0,05, I2 = 0,94), Recessive model (AA vs. AT + TT: OR = 1,54, 95% CI = 1.19; 2.00, P < 0,05, I2 = 0,94), Dominant model (AA + AT vs. TT: OR = 1,26, 95% CI = 1.10; 1.45, P < 0,05, I2 = 0,89), homozygote model (AA vs. TT: OR = 1,60, 95% CI = 1.26; 2.03, P < 0,05, I2 = 0,90), and heterozygote model (AA vs. AT: OR = 1,43, 95% CI = 1.09; 1.88, P = 0,008, I2 = 0,93). we also found a significantly increased risk of T2DM susceptibility and rs8050136 FTO gene polymorphism under all models. For rs17817449 we did not find any association between with T2DM. ConclusionThe present meta-analysis confirms that rs9939609 and rs8050136 in the FTO gene are significantly associated with T2DM, while rs17817449 does not show any association.

Longitudinal effects of FTO gene polymorphism on body composition, cardiorespiratory fitness, physical activity, inflammatory markers, and cardiovascular risk in children and adolescents. "The UP & DOWN study".

The role of polymorphism rs9939609 of the FTO gene has been related with fat mass and cardiovascular risk in adults, but it remains unclear in children and adolescents. Hence, the main aim of this study was to determine the FTO polymorphism effects on body composition, cardiorespiratory fitness (CRF), physical activity (PA), inflammatory markers, and cardiovascular risk both in cross-sectional analysis and after two-years of follow-up in children and adolescents. A total of 2129 participants were included in this study. The rs9939609 polymorphism was genotyped. Body composition measurements, CRF, and moderate-to-vigorous PA (MVPA) were determined at baseline and after two-year of follow-up. Moreover, plasma leptin and adiponectin were also determined as inflammatory markers. Furthermore, an index of cardiovascular disease risk factors (CVDRF-I) was calculated. Codominant (TT vs. TA vs. AA) and dominant (AA+AT vs. TT) models were applied for statistical analysis. The results showed a main effect of the FTO genotype on body composition measures in both first and third year (p < 0.05), with lower adiposity in TT compared with AA or AA+AT group. These differences were maintained after accounting for pubertal maturity, sex, age, VO2 max, and MVPA. Moreover, lower leptin level was observed in TT compared to AA+AT group in the third year. An interaction in Gene*Time*Sex was found in height and neck circumference in dominant model (p = 0.047; p = 0.020, respectively). No differences were found in CRF, MVPA nor CVDRF-I between groups. Hence, homozygous TT allele could be a protective factor against weight gain from early childhood.

Cool executive functions and their association with body mass & fatness and the FTO gene in school-aged children

The FTO gene rs9936909 polymorphism is one of the well-documented single nucleotide polymorphisms in the context of increased risk of obesity, including in children. Few studies have tested the association of the FTO gene with cognitive functions. Deficits of “cool” executive functions (EFs) are considered a potential risk factor for excessive weight. The aims of our study were to investigate whether cool EFs are associated with the Body Mass Index, the Fat Mass Index and the risk of excess body mass and overfatness in neurotypically school-aged children, and whether the FTO gene polymorphism is involved in development of this possible association. The sample consisted of 553 children aged 6–12 years old. A body composition analysis, a neuropsychological assessment of EFs, and FTO polymorphism genotyping were performed in the children studied. The study found a significant association of an interference effect in theStroop Color-Word Interference Task and the risk of excessive body fatness, but not excessive body mass. There were no explicit associations between the FTO genotype and EFs deficits. Environmental factors, and particularly low maternal education, appeared to be the strongest contributors to the increased risk of obesity.

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

FTO gene is associated with obesity, dietary intake, and the risk of colorectal cancer (CRC). In this study, patients with colorectal cancer were assessed for the interactions between FTO gene polymorphisms and dietary intake. This case-control study was carried out on 450 participants aged 35-70 years including 150 patients with colorectal cancer and 300 healthy controls. Blood samples were collected in order to extract DNA and genotyping of FTO gene for rs9939609 polymorphism. A validated 168-item food frequency questionnaire (FFQ) and the Nutritionist-IV software were used to assess dietary intake. In the participants with the TT genotype of FTO rs9939609 polymorphism, CRC risk was significantly associated with higher intake of dietary fat (OR:1.87 CI95%:1.76-1.99, p = 0.04), vitamin B3 (OR:1.20 CI95%:1.08-1.65, p = 0.04), and vitamin C (OR:1.06 CI95%:1.03-1.15, p = 0.04) and lower intake of β-carotene (OR:0.98 CI95%:0.97-0.99, p = 0.03), vitamin E (OR:0.77 CI95%:0.62-0.95, p = 0.02), vitamin B1 (OR:0.15 CI95%:0.04-0.50, p < 0.01), and biotin (OR:0.72 CI95%:0.0.57-0.92, p = 0.01). No significant association was found between CRC and dietary intake in carriers of AA/AT genotypes after adjustments for the confounders. CRC risk may be decreased by β-carotene, vitamins E, B1, and biotin only in those without the risk allele of the FTO gene. The association of CRC and diet may be influenced by FTO genotype. Further studies are warranted.

FTO Gene Polymorphisms and Their Roles in Acromegaly.

The major causes of both morbidity and mortality in patients with acromegaly are cardiovascular diseases (CVDs). The polymorphisms of the fat mass and obesity-associated gene (FTO) are associated with obesity, as well as with an increased risk of CVDs. The aim of the study was to determine the relationship of risk alleles of four FTO gene polymorphisms with selected parameters of lipid and glucose metabolism as well as with IGF-1 and GH levels in the group of patients with acromegaly compared to the control group. The study group consisted of 104 patients with acromegaly and 64 healthy subjects constituting the control group. In the whole acromegaly group, the data reveal that the homozygous for risk allele carriers (rs1421085, rs9930506, rs9939609) as well as carriers of only one risk allele have lower IGF-1 concentrations. In the well-controlled acromegaly group, the homozygous for three risk allele carriers of FTO gene polymorphisms have lower HDL cholesterol concentration (rs1121980, rs1421085, rs993609). In the cured acromegaly group, homozygous risk allele carriers rs9930506 tend to have higher levels of total cholesterol and LDL cholesterol. These associations are not observed in the control group. Conclusion: there is an association between FTO gene polymorphisms and the metabolism of lipids, suggesting that the FTO gene may be associated with higher CVD risk in patients with acromegaly. In addition, there is an association between FTO gene polymorphisms and IGF-1, implying that FTO gene may influence/modify IGF-1 synthesis. Further investigation on a larger scale is required to provide more precise evidence.

FTO gene polymorphisms and their role in acromegaly

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)