FTO Rs9939609 Research Articles

Exploring associations between the FTO rs9939609 genotype and plasma concentrations of appetite-related hormones in adults with obesity.

Associations between variants in the FTO locus and plasma concentrations of appetite related hormones are inconsistent, and might not work in a dose dependent fashion in people with obesity. Moreover, it is relevant to report meal related plasma concentrations of these hormones in persons with obesity given the growing interest in their pharmacological potential in obesity therapy. We find it clinically relevant to examine associations between the SNP rs9939609 genotypes and homeostatic appetite regulation in individuals with BMI ≥35 kg/m2. This study explored associations of the rs9939609 genotypes to plasma concentrations of acylated ghrelin, active glucagon-like peptide 1 (GLP-1), and total peptide YY (PYY), and moderating effects of fat mass (FM), in 96 adults (69% female) with BMI ≥35 kg/m2, using a cross sectional observation study designed to have 1/3 of participants each with genotypes TT, AT and AA, respectively. Participants were median (25th, 75th percentile) 42.5 (32, 50) years of age, weighed 120.9 (109.6, 142.4) kg, and had a BMI of 42.8 (39.5, 46.4) kg/m2. Acylated ghrelin, active GLP-1, and total PYY were measured in the fasted state and half-hourly for 2.5h after a standardized meal. We evaluated associations between genotype and appetite hormones in regression analysis controlling for FM and sex. Genotype did not associate with fasting or postprandial (area under curve, AUC) GLP-1 or PYY. Genotype did not associate with fasting acylated ghrelin, but in females with genotype AA, increased FM was associated with higher fasting and postprandial (AUC) acylated ghrelin concentrations relative to genotypes TT (fasting p = 0.025; AUC p = 0.004) and AT (fasting p = 0.002; AUC p < 0.001). This novel finding warrants further investigation.

Maximal Fat Oxidation During Exercise in Healthy Individuals: Lack of Genetic Association with the FTO rs9939609 Polymorphism

Background/Objectives: Previous studies suggest that there is a genetically determined component of fat oxidation at rest and during exercise. To date, the FTO gene has been proposed as a candidate gene to affect fat oxidation during exercise because of the association of the “at-risk” A allele with different obesity-related factors such as increased body fat, higher appetite and elevated insulin and triglyceride levels. The A allele of the FTO gene may also be linked to obesity through a reduced capacity for fat oxidation during exercise, a topic that remains largely underexplored in the current literature. The aim of this study was to analyze the association between the FTO rs9939609 polymorphism with the rate of fat oxidation during exercise and metabolic syndrome criteria in healthy participants. Methods: A total of 80 healthy participants (41 men and 39 women) underwent comprehensive assessments, including measurements of anthropometric variables, blood pressure and blood measures of fasting glucose, triglycerides, low- and high-density lipoprotein cholesterol (LDL-c and HDL-c), insulin, interleukin-6 (IL-6) and C-reactive protein (CRP) concentrations. Additionally, the Homeostatic Model Assessment (HOMA-IR) was used to evaluate insulin resistance. Peak oxygen uptake (VO2peak) and maximal fat oxidation rate (MFO) were also measured during an incremental cycling test. FTO rs9939609 genotyping (TT, AT, AA) was performed using genomic DNA samples obtained from a buccal swab and measured with PCR. Results: There were 32 participants (40.0%) with the TT genotype; 31 (38.8%) with the AT genotype; and 17 (21.2%) with the AA genotype. Age, body characteristics, VO2peak, blood pressure and blood variables were similar across all three genotypes. However, serum insulin concentration and HOMA-IR were associated with the FTO rs9939609 genotype with higher values in AA with respect to AT and TT participants (p &lt; 0.050). Still, MFO was similar in TT, AT and AA participants (0.35 ± 0.13, 0.37 ± 0.11, 0.33 ± 0.11 g/min, p = 0.702). In the dominant model, there was no statistical difference between TT and A allele carriers. However, the recessive model revealed that AA participants had higher values of body mass, body mass index, blood insulin concentration and HOMA-IR than T allele carriers (p &lt; 0.050), with no differences in MFO. Conclusions: In our sample of healthy individuals, the FTO rs9939609 polymorphism was associated with several phenotypes associated with obesity and insulin resistance, particularly under the AA vs. T allele/recessive model. However, the FTO rs9939609 polymorphism was not associated with MFO during exercise as fat oxidation was similar across genotypes. This suggests that reduced fat oxidation during exercise is unlikely to be a cause of the obesogenic influence of the FTO AA genotype. Clinically, these findings suggest that the obesogenic effects of the FTO AA genotype are unlikely driven by impaired fat oxidation during exercise. Instead, attention should focus on mechanisms like appetite regulation and energy intake. Moreover, exercise interventions may still effectively mitigate obesity risk, as AA individuals retain normal fat oxidation capacity during exercise.

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.

Association between genetic polymorphisms and gestational diabetes mellitus susceptibility in a Chinese population.

Although the association between HHEX, IGF2BP2, and FTO polymorphisms and the risk of GDM has been investigated in several studies, the findings have been inconsistent across different populations. The study aimed to investigate the association between genetic polymorphisms and GDM risk in a Chinese population. 502 control volunteers and 500 GDM patients were enrolled. IGF2BP2 rs11705701 and rs4402960, FTO rs9939609, and HHEX rs1111875 and rs5015480 were all genotyped using the SNPscan™ genotyping assay. The independent sample t-test, logistic regression, and chi-square test were used to assess the variations in genotype and allele and their relationships with the risk of GDM. The blood glucose level, gestational week of delivery, and newborn weight were compared using a one-way ANOVA. After adjusting for confounding factors, the results show that the rs1111875 heterozygous (OR=1.370; 95% CI: 1.040-1.805; P = 0.025) and overdominant (OR=1.373; 95% CI: 1.049-1.796; P = 0. 021) models are significantly associated with an increased risk of GDM, especially for the age ≥ 30 years group: heterozygote (OR=1.646; 95% CI: 1.118-2.423; P=0.012) and overdominant (OR=1.553; 95% CI: 1.064-2.266; P = 0.022) models. In the age ≥ 30 years, the rs5015480 overdominant model (OR=1.595; 95% CI: 1.034-2.459; P = 0.035) and the rs9939609 heterozygote model (OR=1.609; 95% CI: 1.016-2.550; P=0.043), allele (OR=1. 504; 95% CI: 1.006-2.248; P = 0.047), dominant model (OR=1.604; 95% CI: 1.026-2.505; P = 0.038), and overdominant model (OR=1.593; 95% CI: 1.007-2.520; P = 0.047) were associated with a significantly increased risk of GDM; Additionally, people with the TC genotype of rs1111875 had a substantially higher 1-hour blood glucose level than TT genotype (P < 0.05). The results of the meta-analysis showed that the A allele of rs11705701 was associated with an increased risk of diabetes mellitus (P < 0.05). The study indicates that the TC genotype of rs1111875 is linked to a higher risk of GDM, particularly in women aged 30 years or older. Additionally, rs5015480 and rs9939609 were significantly associated with GDM in the same age group. These SNPs may therefore be more closely linked to GDM in older mothers.

Effects of Gene-Lifestyle Interaction on Obesity Among Students.

Obesity is a global health issue influenced primarily by genetic variants and environmental factors. This study aimed to examine the relationship between genetic and lifestyle factors and their interaction with obesity risk among university students. A total of 658 students from the same university participated in this study, including 531 females (mean age (SD): 21.6 (3.9) years) and 127 males (21.9 (4.6) years). Among them, 550 were classified as normal weight or underweight (456 females and 94 males), while 108 were identified as overweight or obese (75 females and 33 males). All the participants underwent anthropometric and genetic screening and completed lifestyle and sleep quality questionnaires. The polygenic risk score, based on seven genetic variants (ADCY3 rs11676272, CLOCK rs1801260, GPR61 rs41279738, FTO rs1421085, RP11-775H9.2 rs1296328, SLC22A3 rs9364554, and TFAP2B rs734597), explained 8.3% (p < 0.0001) of the variance in body mass index (BMI). On the other hand, lifestyle factors-such as meal frequency, frequency of overeating, nut consumption as a snack, eating without hunger, frequency of antibiotic use in the past year, symptoms of dysbiosis, years of physical activity, sleep duration, bedtime, ground coffee consumption frequency, and evening coffee consumption time-accounted for 7.8% (p < 0.0001) of the variance in BMI. The model based on gene-environment interactions contributed 15% (p < 0.0001) to BMI variance. This study revealed that individuals with a higher genetic predisposition, as defined by the seven polymorphic loci, are more susceptible to becoming overweight or obese under certain lifestyle conditions.

Association of FTO variants rs9939609 and rs1421085 with elevated sugar and fat consumption in adult obesity

This cross-sectional study explores the impact of FTO gene single nucleotide polymorphisms (SNPs) rs9939609 and rs1421085 on dietary habits contributing to obesity risk in Thai adults. The study enrolled 384 participants from Bangkok, categorized as non-obese (BMI < 25 kg/m2) or obese (BMI ≥ 25 kg/m2) based on WHO Asia Pacific Guidelines. Genotyping for FTO variants was performed using DNA from blood samples. While both SNPs adhered to Hardy–Weinberg equilibrium, the association between risk alleles and anthropometric measurements was not statistically significant. However, risk allele carriers showed significantly higher intakes of sugar and saturated fat compared to homozygous dominant individuals. In the obese group, the odds ratio for high-sugar intake was 2.22 (95% CI 1.13–4.37, p = 0.021) for rs9939609 risk allele carriers. For high-saturated fat intake, the odds ratio was 1.86 (95% CI 1.02–3.40, p = 0.041). Similar associations were observed for rs1421085. Risk allele carriers also exhibited significantly higher leptin levels (p < 0.043) and a positive correlation with myeloperoxidase levels (p < 0.038). These findings highlight the complex relationship between FTO risk alleles, increased consumption of sugar and saturated fat, and obesity-related parameters. The insights emphasize the importance of considering both genetic and dietary factors in obesity prevention strategies.

Relationship between personal anxiety and genes associated with eating disorders in women aged 45-64

Aim. To study the possible relationship between personal anxiety and polymorphic variants of genes associated with eating disorders (rs17782313 MC4R, rs1800497 DRD2, rs9939609 FTO) in women aged 45-64 in Novosibirsk.Material and methods. A random representative sample of women aged 45-64 years (n=1074, mean age, 54,27±0,2 years) was examined in 2003-2005 at the Research Institute of Internal and Preventive Medicine, a branch of the Institute of Cytology and Genetics, within the Health, Alcohol and Psychosocial Factors In Eastern Europe (HAPIEE) project. Personal anxiety was assessed using the Spielberger self-assessment questionnaire included in the protocol of the Multinational Monitoring of Trends and Determinants of Cardiovascular Disease — Optional Psychosocial Study (MONICA-MOPSY), tested at screenings of the World Health Organization (WHO) MONICA program in 1983-1995. The sample for the HAPIEE program was formed at the program data processing center in Prague for each of the collaborating centers in such a way that each respondent was random. From the sample, every second woman (n=537) was selected for genotyping of the FTO rs9939609 variant (n=384); every third woman (n=358) — for genotyping the MC4R rs17782313 (n=279) and DRD2 rs1800497 variants (n=327). Genotyping was performed in the laboratory of molecular genetic studies by the polymerase chain reaction with the analysis of restriction fragment length polymorphism.Results. Among women aged 45-64, anxiety was detected in 58,3%, and in 15,9% of women the anxiety level was high. The homozygous genotype C/C rs17782313 of the MC4R gene was more common among women with high anxiety levels (17,5%) than among women with low and moderate anxiety levels (1,8 and 0,8%, respectively; p=0,001). There were no significant differences in the detection rate of the rs1800497 genotypes of the DRD2 gene among women with different levels of anxiety (p&gt;0,05). The frequency of the A/A rs9939609 genotype of the FTO gene was highest among women with high anxiety levels — 29,5%, compared to participants with low and moderate anxiety levels (15 and 15,3%, respectively; p=0,048). The probability of anxiety among carriers of the C/C+C/T genotypes of the MC4R gene was 1,29 times higher than among carriers of the T/T genotype (p=0,001). Among carriers of the A/A rs9939609 genotype of the FTO gene, the anxiety probability was 2,34 times higher than among carriers of the A/T+T/T genotypes (p=0,008).Conclusion. The association between anxiety and genes of eating disorders dictates the need for diagnosis and subsequent treatment of anxiety and its associated consequences.

Quantitative analysis of fat distribution in men and women: contribution of diet, physical activity, and FTO genotype

BACKGROUND: The Russian Federation is among the top ten countries in terms of obesity prevalence among adults. AIM: To identify the endogenous (biological factors such as age and FTO genotype) and exogenous (diet and physical activity level) factors that influence body fat accumulation and distribution among a group of women and men from Moscow. MATERIAL AND METHODS: A total of 464 volunteers, consisting of 231 women and 233 men aged between 18 and 60 years, from Moscow took part in a single-center, cross-sectional, observational study. The program involved measuring body height, weight, body and limb girths, as well as conducting caliperometry, bioimpedance analysis, and administering questionnaires. Indices of body fat distribution were calculated. Additionally, differences in genotype, specifically the rs9939609 TA variant in the FTO gene, were also determined. RESULTS: Maintaining a vegetarian diet for at least three years was associated with lower fat and fat-free mass, but not with abdominal fat in both men and women. Engaging in regular physical activity had the most significant impact on abdominal fat in both genders. Furthermore, participating in amateur or professional sports activities for a minimum of 180 minutes per week was associated with lower overall body fat. We found no association between the FTO rs9939609 gene and fat accumulation or distribution, regardless of diet and physical activity levels. CONCLUSION: The results suggest that vegetarian diet and regular physical activity are likely to be the most effective total and abdominal fat loss strategy for male and female adult residents of Moscow.

Genetic and Anthropometric Interplay: How Waist-to-Hip Ratio Modulates LDL-c Levels in Mexican Population.

Genetic factors contribute to the physiopathology of obesity and its comorbidities. This study aimed to investigate the association of the SNPs ABCA1 (rs9282541), ADIPOQ (rs2241766), FTO (rs9939609), GRB14 (rs10195252), and LEPR (rs1805134) with various clinical, anthropometric, and biochemical variables. The study included 396 Mexican mestizo individuals with obesity and 142 individuals with normal weight. Biochemical markers were evaluated from peripheral blood samples, and SNP genotyping was performed using PCR with TaqMan probes. A genetic risk score (GRS) was computed using an additive model. No significant associations were found between the SNPs ABCA1, ADIPOQ, FTO, and LEPR with obesity. However, the T allele of the GRB14 SNP was significantly associated with obesity (χ2 = 5.93, p = 0.01; OR = 1.52; 95% CI: 1.08-2.12). A multivariate linear regression model (adjusted R-squared: 0.1253; p < 0.001) predicting LDL-c levels among all participants (n = 538) identified significant (p < 0.05) beta coefficients for several anthropometric and biochemical variables, as well as for the GRS. Additionally, the interaction between the GRS and the waist-to-hip ratio (WHR) showed a negative beta coefficient (BC = -26.5307; p = 0.014). Participants with a WHR < 0.839 showed no effect of GRS on LDL-c concentration, while those with a WHR > 0.839 exhibited a greater effect of GRS (~9) at lower LDL-c concentrations (~50 mg/dL) and a lesser effect of GRS (~7) at higher LDL-c concentrations (~250 mg/dL). A significant interaction between genetics and WHR influences LDL-c in Mexicans, which may contribute to the prevention and clinical management of dyslipidemia and cardiovascular disease.

Common Hyperglycemia Susceptibility Loci in Metabolic Syndrome Patients from Karachi, Pakistan: A Cross Sectional Study

Background: More than 75 genetic susceptibility loci have been implicated with hyperglycemia. SNPs in genes linked with satiety, insulin sensitivity, BMR (Adiponectin, FTO, and MC4R), and inflammation and autoimmunity (TNF-a) have been shown to have a relationship with metabolic syndrome. Objectives: To measure the frequency of ADIPOQ, FTO, MCR4, and TNF SNPs in metabolic syndrome patients and controls, and to assess the association of these with hyperglycemia and adiposity status. Methods: A cross-sectional study was conducted. Baseline investigations including lipid profiles, blood glucose levels, and BMI calculation were conducted for n=113 Metabolic Syndrome and n=47 healthy controls. Tetra ARMS PCR and gel electrophoresis were conducted for Adiponectin rs266729, Adiponectin rs1501299, FTO rs9939609, MCR4 rs1297013, and TNF rs1800629. Statistical analysis was performed using SPSS version 26. Results: Difference was observed in lipid profiles (including LDL, triglycerides, and cholesterol but not HDL), body fat percentage (p= 0.034), and both fasting (p=0.000) and random (p=0.000) blood glucose levels among metabolic syndrome patients versus controls. Adiponectin rs1501299, FTO rs9939609, and MCR4 rs1297013 showed genotype frequency differences between groups. Spearman’s correlation was applied to test any association of risk allele with study variables and MCR4 rs1297013 showed an independent association with Fasting Blood Glucose Level (r=0.238; p=0.024) irrespective of age, weight, or gender. Conclusion: MCR4 rs1297013 polymorphism is an independent risk factor leading to hyperglycemia in the study population, however, no other SNPs were identified to carry a significant risk. Large-scale genome-wide studies are required to identify the unique set of risk genes for the Pakistani population

Genetic associations with neural reward responsivity to food cues in children.

To test associations of candidate obesity-related single nucleotide polymorphisms (SNPs) and obesity polygenic risk scores (PRS) with neural reward reactivity to food cues. After consuming a pre-load meal, 9-12-year-old children completed a functional magnetic resonance imaging (fMRI) paradigm with exposure to food and non-food commercials. Genetic exposures included FTO rs9939609, MC4R rs571312, and a pediatric-specific obesity PRS. A targeted region-of-interest (ROI) analysis for 7 bilateral reward regions and a whole-brain analysis were conducted. Independent associations between each genetic factor and reward responsivity to food cues in each ROI were evaluated using linear models. Analyses included 151 children (M = 10.9 years). Each FTO rs9939609 obesity risk allele was related to a higher food-cue-related response in the right lateral hypothalamus after controlling for covariates including the current BMI Z-score (p < 0.01), however, the association did not remain significant after applying the multiple testing correction. MC4R rs571312 and the PRS were not related to heightened food-cue-related reward responsivity in any examined regions. The whole-brain analysis did not identify additional regions of food-cue-related response related to the examined genetic factors. Children genetically at risk for obesity, as indicated by the FTO genotype, may be predisposed to higher food-cue-related reward responsivity in the lateral hypothalamus in the sated state, which, in turn, could contribute to overconsumption. https://clinicaltrials.gov/study/NCT03766191, identifier NCT03766191.

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.

Genetic associations with consumption of palatable foods in the absence of hunger in response to food cues in children.

The objective of this study is to evaluate obesity-related genetic factors in relation to excess consumption and assess if food cues modify associations. Children (9-12 years) completed a randomized crossover experiment. During two visits, children ate a preload and then snacks ad libitum while watching television, embedded with food or non-food advertisements to assess eating in the absence of hunger (EAH). Primary exposures were obesity-associated genotypes, FTO rs9939609 and MC4R rs571312, and a paediatric-specific polygenic risk score (PRS). Outcomes included consumption of all snacks (total EAH) and gummy candy only (gummy candy EAH). Linear mixed-effects models tested whether genetic exposures related to EAH outcomes. We tested for effect modification by food cues using multiplicative interaction terms. Among 177 children, each FTO risk allele was associated with a 30% increase in gummy candy EAH (p = 0.025) in adjusted models. Food cue exposure exacerbated associations between the FTO variant with gummy candy EAH (p = 0.046). No statistically significant associations were found between MC4R and EAH. The results suggest children with the FTO rs9939609 risk allele may be predisposed to excess consumption of candy and that this association may be exacerbated by food cues.

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.

Genetic polymorphisms (FTO rs9939609 and TMEM18 rs6548238), adipokines (leptin and adiponectin) and adiposity in children and adolescents with asthma

ObjectiveTo describe independent factors related to the interaction of FTO rs9939609, TMEM18 rs6548238, leptin, and adiponectin in children/adolescents with asthma, under the influence of obesity. MethodsThe authors performed a cross-sectional study with 57 children/adolescents, ages 8–19 years, at a tertiary hospital, from 2017 to 2018. Participants were classified by nutritional status, performed spirometry with a bronchodilator test and completed an asthma questionnaire, higher scores indicated more asthma symptoms. Two asthma groups were formed: Group 1(G1)-normal-weight; Group 2(G2)-overweight/obese. Serum was collected for adipokines (n = 32) and genetic polymorphisms (n = 53) dosages. ResultsAge and body mass index (BMI) correlated directly in normal-weight (p = 0.009) and obese participants (p = 0.004). Girls reported more asthma complaints (p = 0.044). Participants with negative bronchodilator responses presented lower BMI (14.55–17.16) than responders (19.4–26.84) (p = 0.049). Leptin dosages are related directly to BMI (5,34–40 ng/ml in obese × 0,54–42 ng/ml in nonobese) (p = 0.003). Levels were high in girls (4.78–17.55 µg/ml) (p = 0.029) and low in nonobese boys (0.54–6.92 µg/ml) (p = 0.006). In obese, low leptin levels (< 10 ng/ml) were found in small airway dysfunction carriers (p = 0.025); elevated adiponectin (> 5 µg/ml) correlated with FEV1/FVC > 80 % (p = 0.035) and positive bronchodilator tests (8.84–13 µg/ml) (p = 0.039); and FTO A allele correlated with low adiponectin 0–8.84 µg/ml (p = 0.021) and low FEV1/FVC (46 %-88 %) (p = 0.023). ConclusionBMI correlated directly with age and leptin levels. Obese participants presented high serum levels of leptin and FTO A allele correlated with low FEV1/FVC. Larger cohorts are necessary for better elucidation of the role of adipokines and polymorphisms in the pathophysiology of asthma and obesity.

A Systematic Review of the Gene-Lifestyle Interactions on Metabolic Disease-Related Outcomes in Arab Populations.

The increased prevalence of metabolic diseases in the Arab countries is mainly associated with genetic susceptibility, lifestyle behaviours, such as physical inactivity, and an unhealthy diet. The objective of this review was to investigate and summarise the findings of the gene-lifestyle interaction studies on metabolic diseases such as obesity and type 2 diabetes in Arab populations. Relevant articles were retrieved from a literature search on PubMed, Web of Science, and Google Scholar starting at the earliest indexing date through to January 2024. Articles that reported an interaction between gene variants and diet or physical activity were included and excluded if no interaction was investigated or if they were conducted among a non-Arab population. In total, five articles were included in this review. To date, among three out of twenty-two Arab populations, fourteen interactions have been found between the FTO rs9939609, TCF7L2 rs7903146, MC4R rs17782313, and MTHFR rs1801133 polymorphisms and diet or physical activity on obesity and type 2 diabetes outcomes. The majority of the reported gene-diet/ gene-physical activity interactions (twelve) appeared only once in the review. Consequently, replication, comparisons, and generalisation of the findings are limited due to the sample size, study designs, dietary assessment tools, statistical analysis, and genetic heterogeneity of the studied sample.

Interaction Between FTO rs9939609 Polymorphism and Dietary Inflammatory Index (DII) Affect Prediabetes Risk in Indonesians

Interaction Between FTO rs9939609 Polymorphism and Dietary Inflammatory Index (DII) Affect Prediabetes Risk in Indonesians

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.

Exploring the association of FTO rs9939609 and SIRT1 rs7069102 genetic variants with obesity: A case–control study in a sample of Pakistani population

Exploring the association of FTO rs9939609 and SIRT1 rs7069102 genetic variants with obesity: A case–control study in a sample of Pakistani population

Genetic variants related to insulin metabolism are associated with gestational diabetes mellitus

The current study sought to investigate the associations of common genetic risk variants with gestational diabetes mellitus (GDM) risk in the north Indian population and to evaluate their utility in identifying GDM cases. A case-control study, including 300 pregnant women, was included, and clinical and pathological information was collected. The amplification-refractory mutation system (ARMS) was used for genotyping four single nucleotide polymorphisms (SNPs), namely FTO (rs9939609), PPARG2 (rs1801282), SLC30A8 (rs13266634), and TCF7L2 (rs12255372). The odds ratio and confidence interval were determined for each SNP in different genetic models. Further, attributable risk, population penetrance, and relative risk were also calculated. The risk allele A of FTO (rs9939609) poses a two times higher risk of GDM (p = 0.02, OR = 2.5). The CG and GG genotypes of PPARG2 (rs1801282) have half a lower risk of GDM. In SLC30A8 (rs13266634), the recessive model analysis showed a two times higher risk of having GDM, while the recessive model (TT vs. GG + GT) analysis in TCF7L2 (rs12255372) indicates a lower risk of GDM. Finally, the relative risk, population penetrance, and attributable risk for risk allele in all four variants was higher in GDM mothers. All four polymorphisms were found to be significantly associated with BMI, HbA1c, and insulin. Our study first time confirmed a significant association with GDM for four variants, FTO, PPARG2, SLC30A8, and TCF7L2, in the North Indian population.