分子生物学：开放获取

Evaluation of HFE Gene (C282Y) Mutation and Its Association Relation with Coronary Artery Diseases in Indian Population

Abstract

Naseer Ue Din Shah, Abrar Ahmed, Falak Mushatq, Mohd Maqbool Reshi, Jasbir Kour, Hilal Ganaie and Marum Meraj

Background: The gene associated with the CAD disease was found out to be the HFE (High Iron Fe) gene and the disease is described with the two, missense mutations of the gene– C282Y and H63D. The focus of this study was to assess the C282Y mutation in CAD patients that results from transition of guanine to adenine (G-A) at the nucleotide position 845, which in turn changes cysteine to tyrosine at the 282^nd position.

Material and methods: C282Y mutation was analyzed by allele specific PCR (AS-PCR) in 100 samples which includes 96 males and 4 females. Data was collected from each patient. The blood from each patient was collected and analyzed for their cholesterol level, diabetes, RBS (Random blood sugar), LDL (low-density lipoprotein), HDL (high-density lipoproteins), TGL (Triglycerides), smoking, etc.

Results: Out of 100 patients, 12 were found to be C282 and 88 were found to be C282Y. The frequency of C282Y in CAD patients with respect to age was found to be 84 in males. Out of 88 C282Y patients 49 was found to have ≤ 140 mg RBS level and 39 patients was found to have >140 mg RBS level. The frequency of C282Y with respect to cholesterol level was found to be ≤ 200 mg in 82 patients and >200 mg in 6 patients. The frequency of C282Y with respect to HDL was found to be ≤ 40 mg in 79 patients and >40 mg in 9 patients. The frequency of C282Y with respect to LDL was found to be ≤ 100 mg in 70 patients and >100 mg in 18 patients. The frequency of C282Y with respect to TGL was found to be ≤ 150 mg in 45 patients and >150 mg in 43 patients. Out of C282Y patients 4 patients had CHD, 13 were hypertensive, 21 were diabetic, 55 were smokers and 40 were alcoholic.

Conclusion: There association between the C282Y mutation in the haemochromatosis gene and prevalence of CAD was not evident. Besides this mutation is not a threat for advanced disease or depressed ejection fraction in CAD.