Association between single nucleotide polymorphism (C677T) in MTHFR gene and insulin resistance in polycystic ovary syndrome / Amr Yusuf Abdellatif ; Supervised Mohamed Shehata Mohamed Abdallah , Heba Nabil Baz , Wael Faek Gamaleldeen

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Polycystic ovary syndrome is the most common endocrinopathy affecting females of reproductive age, Features include hyperandrogenism, chronic anovulation and polycystic ovaries on ultrasound. insulin resistance is one of the major consequences affecting women with pcos. Aim of the study: The aim of the present work is to study Association between single nucleotide polymorphism (C677T) in MTHFR gene and Polycystic ovary syndrome in patients with or without insulin resistance in comparison to normal healthy controls. Subjects and methods: the study was conducted on eighty patients recruited from outpatient clinic of obstetrics and gynecology department in Kasr Alainy hospital. In addition to 50 sex and age comparable subjects who were taken as a control group.clinical examination, ultrasound and laboratory analysis including total testosterone,fasting and post prandial glucose and insulin and C677T polymorphism in MTHFR gene was detected using polymerase chain reaction restriction fragment length polymorphism PCR-RFLP. Results: Regarding the prevalence of MTHFR C677T genotype among our cases and the corresponding controls, the frequency of the CC, CT and TT was 57.5%, 41.2% and 1.2% respectively in cases, and 70%, 30.0% in the controls respectively. There is no association between single nucleotide polymorphism (C677T) in MTHFR gene and Polycystic ovary syndrome. Regarding the association between C677T and insulin resistance there is significant difference between mutant variant of C677T of MTHFR gene and other alleles in insulin resistant subjects regardless of PCOS patients

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