生物工学および生物医学科学ジャーナル

Association of MTHFR C677T with Obesity in Human Female Population

Abstract

Rakhshanda Rani, Muhammad Irfan

The hypothalamo-pituitary-thyroid axis is responsible for the maintenance of the metabolic processes in the human body. The hypothalamus releases Thyroid Releasing Hormone (TRH) which stimulates the pituitary gland to release Thyroid Stimulating Hormone (TSH) which in turn leads to stimulation of the thyroid gland and release of Thyroxine (T4) and its active derivative Triiodothyroxine (T3). Malfunctioning of any component at any level of the hierarchy of the axis may lead to disorders of metabolism including obesity. The Thyrotropin Releasing Hormone (TRH) is a hypothalamic peptide hormone that possesses a broad spectrum of effects mainly determined by its stimulatory effects on energy metabolism together with iodine containing hormones of the thyroid. The objective of this study is to determine association of a specific Mthfr single nucleotide polymorphism with obesity (BMI) in human at early age. This research included the obese and normal females visiting the hospitals of Islamabad and Rawalpindi. The data about socio-demographic, physical health and lifestyle aspects was collected in the form of a predefined questionnaire Blood samples were collected. Using the traditional phenol-chloroform procedure, DNA was extracted from blood samples and kept at -20℃. The particular primers were created and enhanced for the gene. A particular restriction enzyme was used to digest the PCR-amplified products in order to identify polymorphisms. The digested product was electrophoresed with ethidium bromide staining on agarose gel, and the results were then seen using UV trans illumination. The DNA fragments of the wild-type and mutant varieties were obtained on the gel. The allele frequency of the C to T polymorphism was determined by counting alleles through electrophoresis gel analysis. Chi-square analysis was used to determine the Hardy- Weinberg equilibrium of the alleles in the population. By adjusting the effects of confounding factors such age and socioeconomic characteristics, logistic regression analysis was used to establish the correlation between the polymorphism and BMI. Statistical significance was set at a p value of<0.05. MTHFR C677T was not linked to obesity in women according to our research. The present study has some limitations, including the fact that the subjects' levels of homocysteine and folate were not assessed. A follow-up research is therefore required to assess the folate and homocysteine levels in the obese patients in addition to the MTHFR C677T.