Association of MTHFR C677T with Obesity in Human Female Population

Abstract Background Obesity, characterized by an increase in body mass index (BMI), is recognized as a substantial contributor to chronic diseases. South Asian countries including Pakistan are experiencing a rise in obesity rates. Various research works have established association between metabolic disorders, such as obesity, and specific genetic variations known as single nucleotide polymorphisms (SNPs). The hypothalamo-pituitary-thyroid axis plays a crucial role in regulating metabolic processes within the human body. Dysfunction at any level of this axis hierarchy can result in metabolic disorders such as obesity. This study aims to investigate the potential link between a particular SNP in the MTHFR gene and obesity (measured by BMI) specifically in female individuals. Methods This study enrolled both obese and non-obese females who were attending hospitals in Islamabad and Rawalpindi. Information regarding socio-demographic details, physical health status, and lifestyle factors was gathered through a standardized questionnaire. Blood samples were collected for DNA extraction using the conventional phenol-chloroform method. Specific primers were designed and optimized for the target gene. PCR-amplified products were then digested using a specific restriction enzyme to identify polymorphisms. The resulting fragments were separated by electrophoresis on agarose gel stained with ethidium bromide, and UV transillumination was used to visualize the results. Allele frequencies of the C to T polymorphism were determined by counting the alleles from gel electrophoresis analysis. The Hardy-Weinberg equilibrium of the alleles in the population was assessed using chi-square analysis. Logistic regression analysis, adjusted for confounding factors such as age and socioeconomic characteristics, was employed to evaluate the association between the polymorphism and BMI. Statistical significance was defined as a p-value of < 0.05. Results “We found no relation between the MTHFR C677T and obesity in women.” Conclusion we did not find any relationship of Mthfr C677T with obesity in human females. Some other factors such as lifestyle and eating habits along with genetics are responsible for obesity.