Rs9939609 Polymorphism Research Articles

Impact of the FTO Gene Variation on Appetite and Fat Oxidation in Young Adults

The FTO rs9939609 gene, which presents three polymorphisms (AA, AT, and TT), has been associated with the development of obesity through an increased fat accumulation; however, the associations of the gene with other physiological mechanisms, such as appetite or fat oxidation, are still unclear. Therefore, this study aims to evaluate the influence of the FTO rs9939609 gene on different obesity-related factors in young adults. The FTO rs9939609 polymorphism was genotyped in 73 participants (28 women, 22.27 ± 3.70 years). Obesity-related factors included dietary assessment, physical activity expenditure, body composition, appetite sensation, resting metabolic rate, maximal fat oxidation during exercise (MFO), and cardiorespiratory fitness. Our results showed that TT allele participants expressed higher values of hunger (p = 0.049) and appetite (p = 0.043) after exercising compared to the AT allele group. Moreover, the TT allele group showed significantly higher values of MFO (p = 0.031) compared to the AT group, regardless of sex and body mass index. Thus, our results suggest that the FTO rs9939609 gene has an influence on appetite, hunger, and fat oxidation during exercise, with TT allele participants showing significantly higher values compared to the AT allele group. These findings may have practical applications for weight loss and exercise programs.

Association of serum adiponectin levels and ADIPOQ SNP rs2241766 with breast cancer risk in Indian women.

Adiponectin, an adipokine, and its gene polymorphisms have been associated with breast cancer risk in various populations. In this study, we evaluated the association of the circulating levels of adiponectin and adiponectin gene polymorphism SNP rs2241766 with breast cancer and its clinicopathological characteristics in Indian women. A case-control study was carried out with 60 Ductal Infiltrating Breast Carcinoma patients and 60 age-matched healthy controls. Serum adiponectin levels were measured by ELISA. SNP genotyping was done by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Serum adiponectin levels were compared using the Mann Whitney U test. The frequency of genotypes was compared using the Chi-square test. The odds ratio was calculated using logistic regression. Lower serum adiponectin level was associated with increased risk of breast cancer in postmenopausal women (OR - 7.69; 95% CI - 2.16-27.43, P = 0.002) but not in the reproductive age group women. There was no association between adiponectin levels with the TNM stage of the tumor, histopathological grade, erbB2, and ER/PR status. The SNP rs2241766 polymorphism was not associated with breast cancer risk but the mutant genotypes TG/GG was found to be significantly associated with the lower histopathological grade of the tumor (X2 (2, N = 60) = 8.62, P = 0.01). Our results suggest that low serum adiponectin levels are associated with an increased risk of breast cancer in postmenopausal women. The TG/GG genotypes of SNP rs2241766 polymorphism were associated with a lower histological grade of the tumor.

Association between adiponectin and ADIPOQ (rs 1501299) gene polymorphism in gestational diabetes mellitus patients

Abstract Introduction In this study, we seek to determine the association between the polymorphism of the ADIPOQ (rs1501299) gene and adiponectin levels in gestational diabetes mellitus (GDM) patients. Methods The study participants included 200 pregnant women, 100 healthy subjects as the control group, and 100 having GDM as the case group. The enzyme-linked immunosorbent assay (ELISA) was used to examine adiponectin levels. The polymerase chain reaction-restriction length polymorphism (PCR-RFLP) was also used for genotyping examination. Results Findings showed that GDM patients had significantly lower serum adiponectin levels (p=0.001). The T/T genotype ho-mozygotes prevalence for rs1501299 polymorphism was significantly lower in GDM patients. (p=0.047). Conclusion Low serum adiponectin levels are associated with GDM. The T allele of the rs1501299 (+276 G/T) polymorphism of the ADIPOQ gene protects against GDM.

Prognostic impact of serum vascular endothelial growth factor and VEGF gene polymorphism (rs2010963) in breast cancer patients

Back groundVascular Endothelial Growth Factor (VEGF) mediates breast carcinogenesis. Several studies shown that, VEGF is associated with increased breast cancer risk. However its prognostic significance and expression in different molecular subtypes remain unclear. The current study aimed to evaluate the diagnostic and prognostic role of serum VEGF and VEGF rs2010963 polymorphism in Egyptian women with breast cancer. AimThe current study aimed to evaluate the diagnostic and prognostic role of serum VEGF and VEGF rs2010963 polymorphism in Egyptian women with breast cancer. Subjects and methodsThis study was held in Menoufia University Hospital and included 275 participants, 150 women with invasive breast cancer and 125 women as healthy controls. Serum VEGF was assayed by ELISA technique and genotyping of VEGF rs2010963 polymorphism was analyzed by real time PCR. ResultsThe frequency of GG, CG genotypes and G allele were higher in breast cancer group when compared to the control group (p value = 0.001). In breast cancer patients there was significant relation between VEGF gene (C/G) polymorphism and patient age, tumor and nodal stage, molecular subtype and higher level of serum of CA15–3, CEA and VEGF for patients with GG genotype (P ≤ 0.05). Multivariate Cox regression analysis of factors affecting survival showed that advanced tumor stage, presence of metastasis, serum level of VEGF and GG rs 2010963VEGF gene polymorphism were independent factors affecting patient survival (P ≤ 0.05). Conclusionrs2010963 VEGF gene polymorphism and serum VEGF could be considered as potential risk factors for breast cancer, Patients with breast cancer presenting the GG genotype have the highest serum VEGF levels, large tumor size, advanced tumor stage and shorter survival than CC carriers.

The cluster of differentiation 36 (CD36) rs1761667 polymorphism interacts with dietary patterns to affect cardiometabolic risk factors and metabolic syndrome risk in apparently healthy individuals.

Several studies have examined the association between CD36 rs1761667 polymorphism with cardiometabolic risk factors and metabolic syndrome (MetS). This study aimed to investigate the interactions between rs1761667 polymorphism and dietary patterns on the cardiometabolic risk factors and the risk of MetS in apparently healthy individuals aged 20-70 years. Food consumption data were acquired using a validated semi-quantitative food frequency questionnaire. Dietary patterns were identified by factor analysis. CD36 rs1761667 was genotyped by polymerase chain reaction-restriction fragment length polymorphism. The gene-diet interaction was detected by the general linear model or logistic regression. Significant or marginally significant interactions were observed between healthy dietary pattern (HDP) and CD36 rs1761667 on weight (P=0.006), BMI (P=0.009), waist circumference (P=0.005), hip circumference (P=0.06), body muscle percentage (P=0.02), body fat percentage (P=0.09), triglyceride-glucose index (P=0.057), atherogenic index of plasma (P=0.07), the risk of MetS (P=0.02), risk of abdominal obesity (P=0.02), and elevated blood pressure (P=0.07). Besides, a gene-diet interaction was detected between the traditional dietary pattern (TDP) and rs1761667 variants on odds of hypertriglyceridemia (P=0.02). The adherence to HDP was associated with a lower weight, BMI, and higher odds of HDL-C only in A-allele carriers. In conclusion, adherence to HDP (a diet with high fiber, fish, and dairy products) can be more effective on some cardiometabolic risk factors and risk of MetS components in the A-allele carrier than the GG genotype of rs1761667 polymorphism. However, future studies are required to shed light on this issue.

Association of HTTLPR, BDNF, and FTO Genetic Variants with Completed Suicide in Slovakia.

Since suicide and suicidal behavior are considered highly heritable phenotypes, the identification of genetic markers that can predict suicide risk is a clinically important topic. Several genes studied for possible associations between genetic polymorphisms and suicidal behaviors had mostly inconsistent and contradictory findings. The aim of this case-control study was to evaluate the associations between completed suicide and polymorphisms in genes BDNF (rs6265, rs962369), SLC6A4 (5-HTTLPR), and FTO (rs9939609) in relation to sex and BMI. We genotyped 119 completed suicide victims and 137 control subjects that were age, sex, and ethnicity matched. A significant association with completed suicide was found for BDNF rs962369. This variant could play a role in completed suicide, as individuals with the CC genotype were more often found among suicides than in control subjects. After sex stratification, the association remained significant only in males. A nominally significant association between the gene variant and BMI was observed for BDNF rs962369 under the overdominant model. Heterozygotes with the TC genotype showed a lower average BMI than homozygotes with TT or CC genotypes. FTO polymorphism (rs9939609) did not affect BMI in the group of Slovak suicide completers, but our findings follow an inverse association between BMI and completed suicide.

Patatin-like phospholipase domain-containing 3 gene (PNPLA3) polymorphic (rs738409) single nucleotide polymorphisms and susceptibility to nonalcoholic fatty liver disease: A meta-analysis of twenty studies.

To investigate the correlation between rs738409 polymorphism of patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene (encoding I148m) and genetic susceptibility to nonalcoholic fatty liver disease (NAFLD). Web of Science, Embase, PubMed, Cochrane Library, China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform databases were subjected to study retrieving, from the earliest records to November 2022. International databases were searched using the key words (PNPLA3 gene or PNPLA3 polymorphism or patatin-like phospholipase domain-containing pro-tein3) and (nonalcoholic fatty liver disease or NAFLD or nonalcoholic steatohepatitis) and their possible combination. There was no limitation to language. Ethnicity and country restrictions were not applied. Hardy-Weinberg equilibrium about the genotype frequencies of rs738,409 polymorphism in group of controls was assessed using a chi-square goodness-of-fit test (P > .05). A chi-square-based Q test was applied to assess heterogeneity among studies. The random-effect model (DerSimonian-Laird method) was used when a probability value of P < .10, I2 > 50%. If not, the fixed-effect model (Mantel-Haenszel method) was adopted. The current meta-analysis was done by using STATA 16.0. Twenty studies are selected for this meta-analysis, which includes totally 3240 patients in the treatment group and 5210 patients in the control group. These studies demonstrated a significant increased association between rs738,409 and NAFLD under 5 models: allelic contrast (odds ratio [OR] = 1.98, 95% confidence interval [CI] = 1.65-2.37, Pheterogeneity = 0.000, Z = 7.346, P = .000), homozygote comparison (OR = 3.59, 95% CI = 2.56-5.04, Pheterogeneity = 0.000, Z = 7.416, P = .000), heterozygote comparison (OR = 1.93, 95% CI = 1.63-2.30, Pheterogeneity = 0.002, Z = 7.507, P = .000), the dominant allele model (OR = 2.33, 95% CI = 1.89-2.88, Pheterogeneity = 0.000, Z = 7.856, P = .000), and the recessive allele model (OR = 2.56, 95% CI = 1.96-3.35, Pheterogeneity = 0.000, Z = 6.850, P = .000). Subgroup analysis shows that the rs738,409 polymorphism of PNPLA3 gene in Caucasians and those with a sample size of < 300 is significantly associated with the susceptibility to nonalcoholic fatty liver. Sensitivity analysis shows that the results of meta-analysis are stable. PNPLA3 rs738,409 may play a significant role in increasing risk of NAFLD.

Association Between Follicle-Stimulating Hormone Receptor (FSHR) rs6166 and Estrogen Receptor 1 (ESR1) rs2234693 Polymorphisms and Polycystic Ovary Syndrome Risk, Phenotype, and Reproductive Outcomes in an Infertile Portuguese Population.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder often leading to anovulatory infertility. PCOS pathophysiology is still unclear and several potential genetic susceptibility factors have been proposed. The effect of polymorphisms in two genesrelated to follicular recruitment and development, the follicle-stimulating hormone receptor (FSHR) and the estrogen receptor 1 (ESR1), have been studied in different populations with contradictory results. To evaluate the influence of FSHR rs6166 (c.2039A>G) and of ESR1 rs2234693 (Pvull c.453-397 T > C) polymorphisms on PCOS risk, phenotype, and response to controlled ovarian stimulation (COS). Genotyping of the FSHR rs6166 andthe ESR1 rs2234693 polymorphisms was performed inPCOS women and a control group undergoing in vitro fertilization (IVF). Demographic, clinical, and biochemical data, genotype frequency, and IVF outcomes were compared between groups. We evaluated 88 PCOS women and 80 controls. There was no significant difference in the genotype distribution of FSHR rs6166 polymorphism between PCOS women and controls (AA 31.8%/AS 48.9%/SS 19.3% in PCOS women vsAA 37.5%/AS 40.0%/SS 22.5%in controls; p = 0.522). The same was true for the ESR1 rs2234693 (CC 24.1%/CT 46.0%/TT 29.9% in PCOS women vsCC 18.8%/CT 48.8%/TT 32.5%in controls; p = 0.697).In PCOS women, we found higher follicle-stimulating hormone (FSH) levels on the third day of the menstrual cycle associated with the SS variant of the FSHR polymorphism (9.2 vs6.2 ± 1.6 and 5.6 ± 1.6 mUI/mL; p = 0.011). We did not find other associations between the baseline hormonal parameters, antral follicle count, and response measures to COS with FSHR or ESR1 genotypes. We found, however, a need for higher cumulative doses of FSH for COS in patients with the SS variant of the FSHR rs6166 polymorphism (1860.5 ± 627.8 IU for SSvs1498.1 ± 359.3 for AA and 1425.4 ± 474.8 for SA; p = 0.046 and p = 0.046). Our data suggest thatin the population,FSHR rs6166and ESR1 rs2234693 polymorphisms do not influence the risk of developing PCOS nor do they influence the patient's phenotype and IVF success. However, the SS variant of the FSHR rs6166 polymorphism may beassociated with FSH resistance requiring higher FSH doses for COS.

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.

Body Adiposity Partially Mediates the Association between FTO rs9939609 and Lower Adiponectin Levels in Chilean Children.

Children carrying the minor allele 'A' at the fat mass and obesity-associated protein (FTO) gene have higher obesity prevalence. We examined the link between FTO rs9939609 polymorphism and plasma adiponectin and the mediating role of body adiposity, in a cross-sectional study comprising 323 children aged 6-11 years. Adiponectin and FTO genotypes were assessed using a commercial kit and a real-time polymerase chain reaction with high-resolution melting analysis, respectively. Body adiposity included body mass index z-score, body fat percentage and waist-to-hip ratio. To investigate adiponectin (outcome) associations with FTO and adiposity, linear regressions were implemented in additive models and across genotype categories, adjusting for sex, age and Tanner's stage. Using mediation analysis, we determined the proportion of the association adiponectin-FTO mediated by body adiposity. Lower adiponectin concentrations were associated with one additional risk allele (βadditive = -0.075 log-μg/mL [-0.124; -0.025]), a homozygous risk genotype (βAA/TT = -0.150 [-0.253; -0.048]) and a higher body mass index z-score (β = -0.130 [-0.176; -0.085]). Similar results were obtained for body fat percentage and waist-to-hip ratio. Body adiposity may mediate up to 29.8% of the FTO-adiponectin association. In conclusion, FTO rs9939609-related differences in body adiposity may partially explain lower adiponectin concentrations. Further studies need to disentangle the biological pathways independent from body adiposity.

TCF7L2, CASC8, and GREM1 polymorphism and colorectal cancer in south-eastern Romanian population.

Colorectal cancer (CRC) is a heterogeneous disease with an increasing trend and with multiple epigenetic alterations and different molecular features, a major cause of mortality and morbidity. The Wnt/β-Catenin pathway is involved in multiple aspects of cell dynamics, architecture of developing gastrointestinal tissues, and intestinal tissue homeostasis in adults, but its aberrant activity plays an important role in every aspect of colorectal carcinogenesis. The aim of our study was to investigate the association of the TCF7L2 rs7903146, CASC8 rs6983267, and Gremlin1 (GREM1) rs16969681 polymorphism in patients with CRC without other pathologies. A case-control study conducted on 31 patients diagnosed with CRC and 30 healthy controls age and sex-matched with the patients. Real time PCR was used to determine the genotypes of rs7903146, rs698267, rs1696981. We observed no association between rs6983267 and rs16969681 polymorphism and risk of CRC and low association between TCF7L2, rs7903146, polymorphism and risk of CRC. The recessive model of the TCF7L2 rs7903146 had an OR of 1.6 (95% CI 0.058-4.414, P < .05) which means that TT genotype increased the risk and possibility of development of CRC. Our study did not confirm a significant association between TCF7L2 rs7903146, CASC8 rs6983267, and GREM1 rs16969681 with CRC, but emphasizes the possibility of existence of a high risk of CRC development in patients with TT genotype of rs7903146.

Incidence of Arterial Hypertension is Associated with Adiposity in Children and Adolescents.

The increase of hypertension in children and adolescents has attracted the attention of the scientific community largely due to its association with the obesity epidemic. To describe the incidence of hypertension and its relationship with the cardiometabolic and genetic profile in children and adolescents from a city in southern Brazil in a three-year period. This longitudinal study followed 469 children and adolescents, aged 7-17 years old (43.1% boys), assessed at two-time points. We evaluated systolic and diastolic blood pressures (SBP and DBP), waist circumference (WC), body mass index (BMI), body fat percentage (%BF), lipid profile, glucose, cardiorespiratory fitness (CRF), and rs9939609 Polymorphism ( FTO ). Cumulative incidence of hypertension was calculated, and multinomial logistic regression was conducted. The statistical significance was established as p < 0.05. After three years, the incidence of hypertension was 11.5%. Overweight or obese individuals were more likely to become borderline hypertensive (overweight OR: 3.22, 95% CI: 1.08-9.55; obesity OR: 4.05, 95% CI: 1.68-9.75), and obese individuals were more likely to become hypertensive (obesity OR: 4.84, 95% CI: 1.57-14.95). High-risk WC and %BF values were associated with hypertension development (OR: 3.41, 95% CI: 1.26-9.19; OR: 2.49, 95% CI: 1.08-5.75, respectively). We found a higher incidence of hypertension in children and adolescents as compared with previous studies. Individuals with higher values of BMI, WC and %BF at baseline were more likely to develop hypertension, suggesting the importance of adiposity in the development of hypertension even in such a young population.

Genetic Association of LEP Gene Polymorphisms with Obesity in Moroccan Individuals: Case-Control Study and Updated Meta-analysis.

Obesity is a global epidemic disease representing the fifth leading cause of death in the world. It was shown that it is caused by the interaction between environmental factors and genes including leptin gene (LEP). This paper aimed to analyze the association between the LEP gene polymorphisms rs7799039 and rs11761556 with obesity in Moroccan individuals as well as to perform an update meta-analysis of this genetic association. Both polymorphisms were genotyped in 146 obesity patients and 104 controls using real-time PCR technique. The genetic association analysis and the comparison of quantitative parameters were carried out using the R language. Moreover, a meta-analysis including 20 genetic association studies was performed using Review Manager 5.3 software. No significant association was found between the polymorphisms rs7799039 and rs11761556and the risk of obesity. The comparison of biochemical and clinical parameters between the genotypes of the rs7799039 polymorphism, showed a significant increased triglycerides levels in carriers of AA or GA genotypes (P value = 0.040). The meta-analysis showed no significant association between the rs7799039 polymorphism and obesityunder all genetic models. In conclusion, the case-control study and meta-analysis demonstrated that the LEP gene polymorphisms rs7799039 and rs11761556 cannot be considered as genetic risk factors for obesity.

PNPLA3 148M/M Is More Susceptible to Palmitic Acid-Induced Endoplasmic Reticulum Stress-Associated Apoptosis in HepG2 Cells.

Patatin-like phospholipase domain-containing 3 (PNPLA3) is a major susceptibility gene for nonalcoholic fatty liver disease (NAFLD), and its rs738409 (I148M) polymorphism is associated with the occurrence and progression of NAFLD. Endoplasmic reticulum (ER) stress-related hepatocyte lipoapoptosis contributes to the progress of NAFLD. PNPLA3 is also known as a member of the calcium-independent phospholipase A2ε family, which can hydrolyze fatty acids to generate lysophosphatidylcholine (LPC) that induces ER stress-related hepatocyte lipoapoptosis. Whether the PNPLA3 risk genotype 148M/M is involved in more severe ER stress-associated lipoapoptosis is unclear. A PNPLA3148I knock-in HepG2 cell model was constructed based on HepG2 expressing PNPLA3 148M/M using the Cas9/sgRNA system. PNPLA3 148M/M, I/M, and I/I cells were treated with 0.3 mM palmitic acid (PA) for 24 h to induce lipid deposition. Cellular lipid deposition was detected by oil red staining. Apoptosis was observed by TUNEL. LPC was determined by ELISA, and the expression of PNPLA3, the ER stress marker Bip, molecules involved in the ER stress PERK/elF-2a pathway, and its downstream C/EBP homologous protein (CHOP)-mediated apoptotic pathway were detected by western blot. The results showed no difference in PNPLA3 basal expression and basal hepatocyte lipid content between the three genotypes of cells. Lipid deposition and apoptosis were more severe in PNPLA3 148M/M and 148I/M cells than in I/I cells after PA treatment. PA-induced upregulation of protein expression of Bip, ER stress-responsive PERK pathway molecules p-PERK, p-eIF2α, CHOP, and CHOP-associated apoptotic molecules PUMA and Bax were more pronounced in PNPLA3 148M/M cells than in PNPLA3 148I/I cells. The basal LPC levels and the PA-treated increase of LPC levels in the cell culture supernatants did not differ between the three genotypic cells. PNPLA3 148M/M cells were more susceptible to PA-induced lipid deposition and ER stress-related apoptosis than 148I/I cells, and the proapoptotic susceptibility of PNPLA3 148M/M is independent of LPC.

Genetic association of the rs17782313 polymorphism with antipsychotic-induced weight gain

RationaleWeight gain is a frequent side effect of treatment with SGAs (second-generation antipsychotics) and a leading cause for nonadherence. Several candidate genes have been identified that could influence the amount of AIWG (antipsychotic-induced weight gain). The polymorphism rs17782313 near the MC4R (human melanocortin 4 receptor gene) was strongly associated with obesity in a large scale GWAS (genome wide association study), yet previous studies investigating its impact on AIWG did not lead to a definite conclusion regarding its effect. In particular, they were all relatively short and had a naturalistic design.ObjectiveWe therefore examined the influence of the rs17782313 polymorphism on SGA-related weight gain.MethodsParticipants of a multicenter randomized, controlled, double-blind study comparing two treatment strategies in individuals with schizophrenia or schizoaffective disorder were genotyped using a rapid-cycle polymerase chain reaction. Up to 252 individuals completed the first 2 weeks (phase I), 212 the entire 8 weeks (hence ‘completers’). Patients received either amisulpride or olanzapine or both consecutively. Thirty-seven had their first episode. Weight gain occurring in different genotypes was statistically compared and confounding factors were adjusted by stepwise multiple linear regression. A correction for multiple testing was included.ResultsWithin 212 ‘completers’, carriers of the C allele had a higher absolute weight gain than those homozygous for the T allele (2.6 kg vs. 1.2 kg), though this observation was not significant (P = 0.063). In the amisulpride subpopulation, this association appeared stronger and reached significance (2.5 kg vs. 0.7 kg, P = 0.043), though failed to remain significant after correction for multiple testing. A stepwise multiple linear regression showed a significant association in both the whole study population (P < 0.001) and the amisulpride subpopulation (P < 0.001).ConclusionOur results indicate that the rs17782313 polymorphism might influence antipsychotic-induced weight gain and therefore confirm some of the earlier conclusions.

The genetic predisposition increases the chances of schoolchildren maintaining higher adiposity levels after three years

BackgroundThe behavior of anthropometrics and the relationship with genetic factors through a long-term perspective should be better explored. This study aims to verify the odds of maintaining the nutritional status classification after three years, according to the rs9939609 polymorphism (FTO gene).MethodsIt was a retrospective longitudinal study with 355 schoolchildren (7–17 years). Body mass index, body-fat percentage (BF%), and waist circumference (WC) were measured at baseline and follow-up. The FTO gene was evaluated from blood collection and genotyping performed by real-time polymerase chain reaction. Odds ratios and 95% confidence intervals were calculated.ResultsFor those homozygous with the A allele, the odds of being at less favorable classification at follow-up were 2.29 (1.24; 4.22) and 4.05 (2.08; 7.86) times higher than expected for BF% and WC, respectively, whereas the odds of being in the more favorable classification at follow-up were 0.34 (0.12; 0.93) and 0.11 (0.01; 0.78) for BF% and WC, respectively. The odds of being at less favorable classification were higher for AA carriers with less favorable classification at baseline for BF% and WC compared to AT and TT carriers.ConclusionsSchoolchildren with a genetic predisposition to obesity and unfavorable anthropometric profile at baseline had more chances of maintaining their nutritional status after three years of follow-up.

The Impact of LEP rs7799039 Polymorphism and Obesity on the Severity of Coronavirus Disease-19.

SARS-CoV-2 infection has been recorded in 230 countries to date. Obesity has a negative impact on one's quality of life and is one of the main causes of mortality globally. Obesity affects the immune system, making the host more susceptible to infectious infections. Also, obesity commonly provokes the severity of respiratory diseases so the correlation of LEP rs7799039 Polymorphism in corpulent patients with COVID-19 infection was clearly investigated in the current study. A total of 232 patients were recruited, 116 patients were obese with COVID-19 infection, and 116 patients were non obese COVID-19. Fasting blood glucose test (FBG), hemoglobin A1C (HbA1C), complete blood count (CBC), international normalized ratio (INR), urea, alanine transaminase (ALT), aspartate aminotransferase (AST), D dimer and C-reactive protein (CRP) were estimated. C.T. scan was performed for each patient, and C.T. severity score was calculated. Genotyping for the leptin rs7799039 SNPs was performed by TaqMan® (Applied Biosystems Step One TM Real-time PCR). Regarding LEP polymorphism, all individuals of non-obese groups significantly had the homozygous allele GG (100%), whereas only 56% of obese groups had GG alleles (P = 0.001). The severity scores significantly (P = 0.001) varied regarding LEP polymorphism regarding Rs7799039, where the largest proportion of those with Grade IV had the homozygous allele AA (57.1%). There was a correlation between the leptin gene allelic discrimination and COVID-19 CT brutality in obese patients. The A allele was considered a risk factor for severity in COVID-19 patients while the G allele contributes to decreasing that risk.

Expression of Concern: Influence of the PNPLA3 rs738409 Polymorphism on Non-Alcoholic Fatty Liver Disease and Renal Function among Normal Weight Subjects.

Expression of Concern: Influence of the PNPLA3 rs738409 Polymorphism on Non-Alcoholic Fatty Liver Disease and Renal Function among Normal Weight Subjects.

Does NUCB2/Nesfatin-1 Influence Eating Behaviors in Obese Patients with Binge Eating Disorder? Toward a Neurobiological Pathway.

Nesfatin-1 is a new anorexigenic neuropeptide involved in the regulation of hunger/satiety, eating, and affective disorders. We aimed to investigate nesfatin-1 secretion in vitro, in murine adipose cells, and in human adipose fat samples, as well as to assess the link between circulating nesfatin-1 levels, NUCB2 and Fat Mass and Obesity Gene (FTO) polymorphisms, BMI, Eating Disorders (EDs), and pathological behaviors. Nesfatin-1 secretion was evaluated both in normoxic fully differentiated 3T3-L1 mouse adipocytes and after incubation under hypoxic conditions for 24 h. Omental Visceral Adipose tissue (VAT) specimens of 11 obese subjects, and nesfatin-1 serum levels' evaluation, eating behaviors, NUCB2 rs757081, and FTO rs9939609 polymorphisms of 71 outpatients seeking treatment for EDs with different Body Mass Index (BMI) were studied. Significantly higher levels of nesfatin-1 were detected in hypoxic 3T3-L1 cultured adipocytes compared to normoxic ones. Nesfatin-1 was highly detectable in the VAT of obese compared to normal-weight subjects. Nesfatin-1 serum levels did not vary according to BMI, sex, and EDs diagnosis, but correlations with grazing; emotional, sweet, and binge eating; hyperphagia; social eating; childhood obesity were evident. Obese subjects with CG genotype NUCB2 rs757081 and AT genotype FTO rs9939609 polymorphisms had higher nesfatin-1 levels. It could represent a new biomarker of EDs comorbidity among obese patients.