Genetic Association of FTO rs9939609 Polymorphism with Hypertension in Pakistani Population

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

The association between FTO rs9939609 polymorphism and serum lipid profile in adult women

Background FTO gene is considered to play an important role in many metabolic diseases. Evidence from studies indicated the possible association between the FTO rs9939609 polymorphisms with serum lipid profile. Therefore, this study aimed to investigate the association of FTO rs9939609 polymorphism with lipid profile in Iranian women. Methods This cross-sectional study was carried out on 380 adult women. Information about age, height, weight, BMI, physical activity, and dietary intake were collected. The serum levels of Low Density Lipoprotein (LDL), High Density Lipoprotein (HDL), Triglyceride (TG), and total cholesterol were measured. The FTO gene was genotyped for rs9939609 polymorphism. The participants were divided into two groups of TT and AT/AA considering dominant model of FTO rs9939609 polymorphism. Results General characteristics of the participants with different FTO genotypes were not significantly different. The lower levels of HDL were observed in AT/AA genotypes compared to the TT wild type genotype of FTO rs9939609 polymorphism (P = 0.004). Adjustments of age, BMI, and physical activity did not change the results. Conclusions However, the significant association between FTO genotype and the HDL level was disappeared after further adjustments for dietary intake. Further studies are warranted to identify the underlying mechanisms of the possible association between FTO gene and serum lipid profile.

The Association of Fat-Mass-and Obesity-Associated Gene Polymorphism (rs9939609) With Colorectal Cancer: A Case-Control Study

Background and AimThe association between the rs9939609 polymorphism of fat mass and obesity-associated gene (FTO) and risk of colorectal cancer is controversial. This study aims to evaluate the relationship between FTO rs9939609 polymorphism and colorectal cancer (CRC) in Iranian people.MethodsA case-control study was conducted on 125 patients with CRC and 250 healthy subjects in Tehran, Iran. Demographic data and blood samples were collected from all participants. Genotyping of rs9939609 polymorphism was performed by the tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) method.ResultsThe occurrence of AA genotype of FTO rs9939609 polymorphism in the colorectal cancer patients was significantly higher compared to that of healthy subjects (16.4 vs. 2.9%, respectively, P=0.02). The association between the frequency of risk allele of the FTO polymorphism and CRC (B=1.67, P=0.042) remained significant after adjustment for age. Further adjustment for gender (model 2) and marital status (model 3) did not change this result (B=1.67, P= 0.042 and B=1.67, P=0.043, respectively). The results remained significant after additional adjustment for ethnicity (B=1.57, P= 0.047).ConclusionWe found a positive association between the A allele of the rs9939609 polymorphism and CRC. Future studies are required to identify the underlying mechanisms.