Gene Rs9939609 Polymorphism Research Articles

The A-allele of the FTO Gene rs9939609 Polymorphism Is Associated With Decreased Proportion of Slow Oxidative Muscle Fibers and Over-represented in Heavier Athletes.

Guilherme, JPLF, Egorova, ES, Semenova, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Ospanova, EA, Pavlenko, AV, Lyubaeva, EV, Popov, DV, Lysenko, EA, Vepkhvadze, TF, Lednev, EM, Govorun, VM, Generozov, EV, Ahmetov, II, and Lancha Junior, AH. The A-allele of the FTO gene rs9939609 polymorphism is associated with decreased proportion of slow oxidative muscle fibers and over-represented in heavier athletes. J Strength Cond Res 33(3): 691-700, 2019-The purpose of this study was to explore the frequency of the FTO T > A (rs9939609) polymorphism in elite athletes from 2 cohorts (Brazil and Russia), as well as to find a relationship between FTO genotypes and muscle fiber composition. A total of 677 athletes and 652 nonathletes were evaluated in the Brazilian cohort, whereas a total of 920 athletes and 754 nonathletes were evaluated in the Russian cohort. It was found a trend for a lower frequency of A/A genotype in long-distance athletes compared with nonathletes (odds ratio [OR]: 0.65; p = 0.054). By contrast, it was found an increased frequency of the A-allele in Russian power athletes. The presence of the T/A + A/A genotypes rather than T/T increased the OR of being a Russian power athlete compared with matched nonathletes (OR: 1.45; p = 0.002). Different from that observed in combat sports athletes of lighter weight categories, the A-allele was also over-represented in combat sports athletes of heavier weight categories. The presence of the T/A + A/A genotypes rather than T/T increased the OR of being a combat sports athlete of heavier weight categories compared with nonathletes (OR: 1.79; p = 0.018). Regarding the muscle fibers, we found that carriers of the A/A genotype had less slow-twitch muscle fibers than T-allele carriers (p = 0.029). In conclusion, the A/A genotype of the FTO T > A polymorphism is under-represented in athletes more reliant on a lean phenotype and associated with decreased proportion of slow-twitch muscle fibers, while is over-represented in strength and heavier athletes.

Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques.

BackgroundPolycystic ovary syndrome (PCOS), the commonest endocrine disorder affecting young women, appears to be a multigenic trait with contributing genes being unclear. Hence, analysis of polymorphisms in multiple candidate genes is required. Currently available genotyping methods are expensive, time-consuming with limited analytical sensitivity.Aim(i) Develop and validate high resolution melting (HRM) assay and allele-specific real-time quantitative PCR (AS-qPCR) for genotyping selected SNPs associated with PCOS.(ii) Identify selected SNPs and their association with a Sri Lankan cohort of well-characterized PCOS.MethodsDNA was extracted from women with well-characterized PCOS from adolescence (n = 55) and ethnically matched controls (n = 110). FTO (Fat mass and obesity associated gene; rs9939609), FSHB (Follicle stimulating hormone beta subunit; rs6169), FSHR (Follicle stimulating hormone receptor; rs6165/rs6166), and INSR (Insulin receptor; rs1799817) genes were genotyped using HRM assay. GnRH1 (Gonadotropin releasing hormone; rs6185), LHB (Luteinizing hormone beta subunit; rs1800447/rs34349826) and LHCGR (Luteinizing hormone/choriogonadotropin receptor; rs2293275) genes were genotyped using AS-qPCR method. Genotyping results were validated using Sanger sequencing.ResultsA significant association was observed within FTO gene polymorphism (rs9939609) and PCOS. Genotype frequency of FTO gene (rs9939609)—cases versus controls were TT-36.4% vs.65.4% (p<0.05), AT-23.6% vs.20.9%, AA-40% vs.13.6% (p<0.05). Genotype frequencies of the SNPs GnRH1 (rs6185), FSHB (rs6169), FSHR (rs6165 & rs6166), LHB (rs1800447 & rs34349826), LHCGR (rs2293275) and INSR (rs1799817) were not significantly different between cases and controls (p>0.05). Only the mutant alleles were observed for LHB rs1800447 and rs34349826 SNPs in both groups. The HRM and AS-qPCR assay results had 100% concordance with sequencing results.ConclusionsFTO gene rs9939609 polymorphism is significantly more prevalent among Sri Lankan PCOS subjects while the other selected SNPs of HPG axis genes and INSR gene showed no association. HRM and AS-qPCR assays provide a reliable, fast and user-friendly genotyping method facilitating wider implication in clinical practice.

The FTO Gene rs9939609 Polymorphism and its Association with BAI as Well as Other Adiposity Markers

The FTO Gene rs9939609 Polymorphism and its Association with BAI as Well as Other Adiposity Markers

Association of the FTO gene rs9939609 polymorphism with carbohydrate metabolism disorders in the Republic of Tatarstan

Association of the FTO gene rs9939609 polymorphism with carbohydrate metabolism disorders in the Republic of Tatarstan

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

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

Association of FTO rs9939609 with Obesity in the Kuwaiti Population: A Public Health Concern?

Objective: To investigate the effect of the common fat mass and obesity-associated (FTO) gene polymorphism rs9939609 on body mass index (BMI) in one of the most obese populations worldwide. Subjects and Methods: Genotypic data for FTO rs9939609 were available for 1,034 unrelated Kuwaiti adults obtained from Kuwait’s Dasman Diabetes Institute and Kuwait University. The association between the FTO polymorphism with BMI as continuous and categorical (normal BMI [< 25] vs. overweight/obese [> 25]) variables was analyzed using both linear and logistic regression models, respectively, with the assumption of both dominant and additive genetic models performed using the SNPassoc package from R statistics. Results: The A allele was associated with increased BMI (β = 1.21; 95% CI = 0.16–2.26; p = 0.023). In concordance, the categorical BMI (normal vs. overweight/obese) also showed a significant association between the A allele and overweight/obesity (OR = 1.47; 95% CI = 1.01–2.12; p = 0.041). However, no association between the FTO variant was observed with cardiometabolic traits. Conclusion: We observed an association between the common FTO rs9939609 polymorphism and increased BMI (overweight/obesity) in Kuwaiti adults, which is consistent with previous research in other populations. Our findings encourage further investigation of genetic variants to elucidate the mechanisms involved in the development of obesity in such an obesogenic population.

Ассоциация rs9939609 полиморфизма гена FTO с метаболическим здоровьем у пациентов с ожирением в популяции жителей Санкт-Петербурга

Ассоциация rs9939609 полиморфизма гена FTO с метаболическим здоровьем у пациентов с ожирением в популяции жителей Санкт-Петербурга

Cardiovascular Risk Factors after Childhood Cancer Treatment Are Independent of the FTO Gene Polymorphism?

The study objective was to assess the prevalence of cardiovascular disease risk factors in patients treated for childhood cancer (N = 101) and to determine the involvement of clinical (cancer type and therapy) and/or genetic (FTO gene rs9939609 polymorphism) factors. Anthropometric features, laboratory findings, and standardized osteodensitometric indices (fat and lean mass) were considered. Overweight/obesity was found in 17.82% of the patients; however, central adiposity was found in as many as 42.5%. At least one abnormality in lipid metabolism was observed in 35.6%. Densitometry revealed elevated levels of fat mass in 44.55% of the patients. None of the parameters studied were associated with the FTO gene polymorphism. Standardized waist circumference was significantly higher in patients treated for leukemia than those treated for solid tumors (p = 0.04). Our findings indicate a high rate of central adiposity among childhood cancer survivors, especially leukemia patients. The prevalence of risk factors of cardiovascular disease after anticancer therapy is not FTO gene polymorphism-dependent.

Interleukin-10 gene rs1800896 polymorphism increases risk of acute pancreatitis.

Background:The association between interleukin-10 (IL-10) gene rs1800896 polymorphism and susceptibility to acute pancreatitis (AP) has been investigated in several studies, but with contradictory findings. Therefore, a comprehensive meta-analysis is needed to assess the strength of such association.Methods:Literatures on PubMed, EMBASE, and CNKI were searched to identify relevant studies. The strength of association between IL-10 gene rs1800896 polymorphism and AP risk was assessed using pooled odds ratios and 95% confidence intervals.Results:Totally 7 case–control studies involving 1527 cases and 1511 controls were identified. Analyses proved that IL-10 gene rs1800896 polymorphism was significantly associated with an increased risk of AP. Stratification analysis of ethnicity found such significant association only among Asians, but not Caucasians.Conclusion:IL-10 gene rs1800896 polymorphism increases the risk of AP.

Interleukin 10 gene rs1800896 polymorphism is associated with the risk of prostate cancer.

Numerous studies have uncovered the association of Interleukin-10 (IL-10) gene rs1800896 polymorphism with the risk of prostate cancer (PCa); however, their conclusions were inconsistent. Therefore, we conducted this meta-analysis to evaluate the role of IL-10 rs1800896 polymorphism in the risk of PCa. 16 eligible studies in 15 articles involving 6,301 cases and 6,510 controls were identified by researching PubMed, Google, CNKI, and EMBASE up to April 1, 2017. Our results revealed that IL-10 rs1800896 polymorphism was associated with the decreased risk of PCa under the homozygous model. Subgroup analysis by ethnicity revealed that rs1800896 polymorphism decreased the risk of PCa among Caucasians. In conclusion, IL-10 gene rs1800896 polymorphism is associated with the decreased risk of PCa. Larger studies with more diverse ethnic populations are needed to confirm these results.

FTO gene polymorphisms (rs9939609 and rs17817449) as predictors of Type 2 Diabetes Mellitus in obese Iraqi population

BackgroundThe variation of the SNPs in FTO (fat mass and obesity associated) gene are improved to be associated with obesity and type 2 diabetes (T2DM) in some ethnic groups for example in European while, this consistency is controversial in Asians and there were few studies in Iraqi population about the effect of this gene on the development of T2DM in obese patients. Therefore, the objective of this study is to investigate the impact of the two common FTO gene variants in the development of T2DM in obese Iraqi patients. MethodsA case-control study in which the FTO gene variants rs9939609 and rs17817449 were genotyping in a total of 800 individuals, 400 T2DM obese patients (patients group) and 400 healthy control obese volunteers (control group) to explore the relation of these SNPs with T2DM in obese Iraqi population. The patients group was enrolled from diabetic clinic in Al Najaf al Ashraf based on WHO guidelines of T2DM. From whole blood the DNA was extraction and genotyped by using ScaI and AlwNI enzymes respectively in the PCR–RFLP technique. Multinomial logistic regression was applied to compare the proportions of genotypes and alleles. The odd's ratio, t-test P value at 95% confidence interval were measured before and after adjustment of BMI, age and sex adjustment. The genetic power, Hardy Weinberg equilibrium and haplotype analysis were tested in the present study. ResultsIt was observed that the presence of T allele in the two SNPs rs9939609 and rs17817449 in the FTO gene polymorphisms was associated with increased risk for the development of T2DM in Iraqi obese individuals. The minor allele (T) in rs9939609 was significantly higher (P=0.0001) in T2DM (31.25%) when compared with that of the control obese group (20%). The Homozygous genotype (TT) significantly (OR=3.25, CI 95% 1.87–5.64, P=0.000) increased the risk of T2DM by three folds with respect to those of wild type (AA) after adjustment for age, sex and BMI, furthermore, it was significantly increased the risk in the dominant, recessive and additive models (P=0.000,0.000 and 0.0001 respectively). The T allele in rs17817449 was also significantly higher (P=0.0001) in patients group (36.25%) when compared with that of the control group (27.25%). The Heterozygous genotype (TG) significantly (OR=2.24, CI 95% 1.65–3.04, P=0.000) increased the risk of T2DM more than two folds with respect to those of wild type (GG) after adjustment for age, sex and BMI, and it was significantly increased the risk in the dominant models (P=0.000). In the relation to the phenotypic parameters the two SNPs were significantly associated with increased BMI, LDL, insulin and HOMA-IR and a decrease the HDL levels. ConclusionThe FTO gene polymorphisms rs9939609 and rs17817449 play a role in the in the development of insulin resistance and hence occurrence of type 2 DM in obese patients.

Association of the FTO gene rs9939609 polymorphism with obesity in the Republic of Tatarstan

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

The association of rs993609 polymorphisms of gene FTO and rs659366 polymorphisms of gene UCP2 with obesity among Arctic Russian population

It is known that particular qualities of the prevalence of obesity, characteristic for the population of the Far North, are connected with the presence of genetic polymorphisms. The association of two polymorphisms (rs993609 of FTO gene and rs659366 of UCP2 gene) with obesity was studied in 175 people living on the territory of the Russian Arctic (Yamalo-Nenets Autonomous District). The incidence of obesity risk allele (A) of FTO gene rs9939609 polymorphism in the surveyed population of the Arctic (30.8%) was lower by 15% than that of the population of the central regions of Russia, Caucasian Americans and Europeans, but was higher by 18-20% than in Alaska inhabitants. The frequency of the A allele of the FTO gene was significantly 1.4-fold lower in indigenous Arctic people than in the alien population (p<0.05), that had significantly higher content of body fat (by 12%) than the indigenous population, including the Nenets (p<0.05). Рositive association had been identified between T allele rs659366 polymorphism of UCP2 gene and obesity risk in the surveyed who lived in the Arctic zone. Thus, the inhabitants of the Far North revealed the presence of genetic variants that contribute to heat production.

Lack of Association of the Fat Mass and Obesity Associated (FTO) Gene rs9939609 Polymorphism with Breast Cancer Risk: a Systematic Review and Meta-Analysis Based on Case - Control Studies

Background:Previously published data on any association of the fat mass and obesity-associated (FTO) gene with breast cancer risk remain inconclusive. Therefore, we conducted the present meta-analysis of links between breast cancer and the FTO rs9939609 polymorphism.Methods:We have conducted a systematic review of the English literature by searching PubMed, Google Scholar and ISI Web of Knowledge databases for studies on associations between the FTO rs9939609 polymorphism and breast cancer risk. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to estimate the strength of the association using fixed- or random-effects model.Results:We included five studies with 1134 cases and 1453 controls. Overall, no significant association between the FTO rs9939609 polymorphism and risk of breast cancer was found. On subgroup analysis by ethnicity, there was still no significant association detected.Conclusions:To our knowledge, this is the first meta-analysis of the FTO rs9939609 polymorphism and risk of breast cancer. However, the present meta-analysis suggested that only there might be a significant association of the CXCL12 rs1801157 polymorphisms with breast cancer risk.

The Role of TCF7L2 rs7903146 in Diabetes After Kidney Transplant: Results From a Single-Center Cohort and Meta-Analysis of the Literature.

Several genetic polymorphisms modulate the risk of posttransplant diabetes mellitus (PTDM), a complication associated with an increased morbidity and mortality after kidney transplantation; however, their clinical utility is still undefined. Genetic analysis was performed in 464 kidney transplantation recipients to evaluate whether transcription factor 7-like 2 (TCF7L2) rs7903146 gene polymorphism is associated with the risk of PTDM and a meta-analysis of similar studies including our results was performed (total kidney transplantation recipients, n = 3105). A predictive model of PTDM was built on the basis of this polymorphism and clinical parameters. In our cohort, 163 patients possessed the CC genotype of rs7903146 (35.1%), 237 were CT (51.1%), and 64 were TT (13.8%): their 2 years PTDM incidence was, respectively, 7.8%, 11.9%, and 22.7%. At multivariate analysis, age (per year; hazard ratio [HR], 1.029; 95% confidence interval [95% CI], 1.005-1.054; P = 0.017), body mass index (25.0-29.9 vs <25.0; HR, 2.43; 95% CI, 1.40-4.23; P = 0.0018; ≥30 vs <25.0; HR, 5.70; 95% CI, 2.77-11.74; P < 0.0001), TCF7L2 rs7903146 (per each T allele; HR, 1.81; 95% CI, 1.26-2.59; P = 0.001) and previous transplants (HR, 2.80; 95% CI, 1.39-5.64; P = 0.004) emerged as independent predictive factors for PTDM.Meta-analysis of present and 5 previous studies showed higher risk of PTDM in carriers of rs7903146 TT genotype (odds ratio, 1.95; 95% CI, 1.39-2.74; P < 0.0001) and absence of heterogeneity among studies (I = 0%).Inclusion of this polymorphism in a predictive model appeared to improve its ability to stratify patients according to the risk of PTDM. In renal transplant patients, TCF7L2 rs7903146 is strongly and independently associated with PTDM and might hold the potential to identify patients at risk for this complication.

Association of adiponectin gene polymorphism rs266729 with type two diabetes mellitus in Iraqi population. A pilot study

BackgroundDiabetes incidence is increasing worldwide. Many studies demonstrated that polymorphisms within the adiponectin gene could be associated with type 2 diabetes mellitus (T2DM). MethodsA case–control study was conducted to find the association between SNP rs266729 and T2DM in Iraqi population. The study included 135 patients referring to diabetic clinic in Najaf city randomly selected based on World Health Organization (WHO) guidelines and 135 healthy controls. DNA was extracted from blood and genotyped by PCR–RFLP by using (HhaI) enzyme. Multinomial logistic regression was applied to compare the proportions of genotypes and alleles. The odds ratio for risk of developing T2DM was calculated with and without adjustment for age, sex, and BMI. ResultsThe frequency of the G allele of rs266729 (C/G) polymorphism was significantly higher (p=0.00) in diabetic subjects (28%) compared to that in normal subjects (14%). The homozygous genotype (GG) significantly (OR=3.67, CI 95%(1.25–10.76), P=0.01) increased the risk of T2DM by three folds with respect to those of the wild type (CC) after adjustment for age, sex and BMI, furthermore the heterozygous CG genotype significantly (OR=2.45, CI 95%(1.41–4.26), P=0.001) raised the risk of T2DM by two folds.Homozygous and heterozygous genotypes of rs266729 polymorphism exhibited significant association with raised fasting insulin values (p=0.01), and decreased HDL levels (p=0.00). ConclusionAdiponectin gene polymorphism rs266729 is involved in the pathogenesis of T2DM. In addition this SNP may play a role in the development of cardiovascular diseases and metabolic syndrome by affecting HDL and insulin levels.

Association of cytokine gene polymorphisms with susceptibility to invasive candidiasis.

The aim of this study was to investigate the role of cytokine genes in the susceptibility to Candida infection. A total of 275 consecutive patients diagnosed with Candida infection were selected between May 2010 and May 2011, along with 305 uninfected controls. Genotyping of the IL-1β gene polymorphisms (IL1β) rs1143634, IL1βrs16944, IL8 rs4073, IL10 rs1800872, and IL10 rs1800896 was carried out using a 384-well plate format on the Sequenom MassARRAY platform. Patients with invasive Candida infections were more likely to have had an immunocompromised state, hematopoietic stem cell transplantation, solid organ transplant, solid tumor, chemotherapy within the past three months, neutropenia, surgery within the past 30 days, acute renal failure, liver failure, and/or median baseline serum creatinine. Conditional logistic regression analyses found that individuals with the rs1800896 GG genotype were associated with a higher risk of invasive Candida infections than those carrying the AA genotype (odds ratio = 0.61, 95% confidence interval = 0.37-0.94). From the results of this case-control study, we suggest that the cytokine IL-10 gene rs1800896 polymorphism might play a role in the etiology of invasive Candida infections.

Association study of IL-10 gene promoter polymorphisms and efficacy of risperidone treatment of schizophrenic patients with first episode

Objective To investigate association of IL-10 gene promoter polymorphisms with first episode schizophrenic and efficacy of risperidone. Methods 513 schizophrenic patients with first episode(patient group) and 627 health controls(control group)participated in this study. Genotyping for IL-10 gene label single nucleotide polymorphism(SNP)sites-592A/C (rs1800872), -1082A/G(rs1800896), -819T/C(rs1800871) were performed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP)genotyping technology.513 patients were administered orally risperidone for 8 weeks.Clinical efficacy were evaluated with PANSS. Results The frequences of rs1800896 genotypes (332: 166: 15, 453: 161: 13; χ2=7.55, df=2, P=0.02) and alleles(830: 196, 1067: 187; χ2 =7.09, df=1, P=0.008, OR=1.35, 95%CI=1.08~1.68) showed significant differences between patient group and control group, however only allele differences showed statistical significance after Bonferroni correction(P=0.024). The frequencies of rs1800872and rs1800871 genotypes and alleles had no significant differences between patient group and control group(P>0.05). There were no significant differences of haplotype frequences between patient group and control group(P>0.05). There were no significant differences of genotypes (134: 209: 38, 61: 59: 12; χ2=5.16, df=2, P=0.08; 244: 129: 8, 88: 37: 7; χ2=4.57, df=2, P=0.10; 188: 158: 35, 54: 64: 14; χ2 =2.80, df=2, P=0.25)and alleles (477: 285, 181: 83; χ2=3.03, df=1, P=0.08; 617: 145, 213: 51; χ2 =0.01, df=1, P=0.92; 534: 228, 172: 92; χ2=2.22, df=1, P=0.14) frequences of rs1800872, rs1800896, rs1800871 between effective group(381cases) and invalid group(132 cases) of Risperidone efficacy(P>0.05), while ATC haplotype frequences had significant difference between two groups(χ2=7.501, P=0.006, OR(95%CI)=2.420(1.262-4.640)). Conclusion IL-10 gene rs1800896 polymorphism may be associated with susceptibility to schizophrenia.The clinical curative effect of risperidone in the treatment of schizophrenia is associated with ATC haplotype, ATC haplotype may be good predictors to the overall curative effect of risperidone. Key words: First episode schizophrenia; Gene polymorphisms; Interleukin 10; Risperidone tablets

The FTO Gene rs9939609 Polymorphism Predicts Risk of Cardiovascular Disease: A Systematic Review and Meta-Analysis

ObjectiveGenome-wide association studies have shown that variance in the fat mass- and obesity- associated gene (FTO) is associated with risk of obesity in Europeans and Asians. Since obesity is associated with an increased risk of cardiovascular disease (CVD), several studies have investigated the association between variant in the FTO gene and CVD risk, with inconsistent results. In this study, we performed a meta-analysis to clarify the association of rs9939609 variant (or its proxies [r 2>0.90]) in the FTO gene with CVD risk.MethodsPublished literature from PubMed and Embase was retrieved. Pooled odds ratios with 95% confidence intervals were calculated using the fixed- or random- effects model.ResultsA total of 10 studies (comprising 19,153 CVD cases and 103,720 controls) were included in the meta-analysis. The results indicated that the rs9939609 variant was significantly associated with CVD risk (odds ratio = 1.18, 95% confidence interval = 1.07–1.30, p = 0.001 [Z test], I 2 = 80.6%, p<0.001 [heterogeneity]), and there was an insignificant change after adjustment for body mass index (BMI) and other conventional CVD risk factors (odds ratio = 1.16, 95% confidence interval = 1.05–1.27, p = 0.003 [Z test], I 2 = 75.4%, p<0.001 [heterogeneity]).ConclusionsThe present meta-analysis confirmed the significant association of the rs9939609 variant in the FTO gene with CVD risk, which was independent of BMI and other conventional CVD risk factors.

Fat mass and obesity-associated gene polymorphisms do not affect metabolic response to hormone therapy in healthy postmenopausal women

To determine whether fat mass and obesity-associated gene polymorphisms rs9939609 T>A and rs8050136 A>C or their haplotypes influence anthropometric and metabolic variables in recently postmenopausal women receiving hormone therapy. In this randomized crossover study carried out in a university clinic, 86 postmenopausal women consulting for symptoms of estrogen deficiency were genotyped by real-time polymerase chain reaction for single nucleotide polymorphisms rs9939609 T>A and rs8050136 A>C of the fat mass and obesity-associated gene. Haplotypes were constructed from the combination of polymorphisms rs9939609 and rs8050136, and their frequencies were inferred using the PHASE 2.1.1 program. Participants were clinically evaluated before and after 6 months of hormone therapy to determine body mass index (current kg/m(2)) and waist circumference, blood pressure, lipid profile (total cholesterol, HDL cholesterol and triglycerides) plasma glucose (oral glucose tolerance test), and insulin. Blood samples were also drawn for ultra sensitive C reactive protein. The lipid accumulation product index was calculated as (waist [cm] - 58) × triglyceride concentration (mmol/L). Non-normally distributed parameters were log10 transformed before statistical analysis. Measurements at baseline and at follow-up were compared with ANOVA for repeated measures. Data were considered significant at P<0.05. In women with the homozygous polymorphic AA genotype of the single nucleotide polymorphisms rs9939609 and the wild AA genotype of the single nucleotide polymorphisms rs8050136, lipid accumulation product index and ultra sensitive C reactive protein were higher before hormone therapy in comparison with women with other genotypes from the same single nucleotide polymorphisms group. There was no worsening of any of the anthropometric or metabolic variables, and lipid accumulation product index improved slightly after hormone therapy in SNP rs9939609 (P=0.03) and haplotype AAAA. No changes were observed after hormone therapy in SNP rs8050136. The presence of fat mass and obesity-associated gene risk variants in healthy early postmenopausal women does not adversely affect their response to hormone therapy.