Relationship between Diabetic Retinopathy and Methylenetetrahydrofolate Reductase Gene Polymorphism

M, Jihan Abdallah; Mohamed, Seham; A, Hamdia Ezzat; M, Eman Salah

doi:10.12816/0037814

Relationship between Diabetic Retinopathy and Methylenetetrahydrofolate Reductase Gene Polymorphism

Document Type : Original Article

Authors

¹ ,Ophthalmology Department ,Faculty of Medicine (for Girls), Al-Azhar University, Cairo, Egypt

² clinical pathology Department, Faculty of Medicine (for Girls), Al-Azhar University, Cairo, Egypt.

10.12816/0037814

Abstract

Purpose: To assess MTHFR rs1801133 (C677T) gene polymorphism in diabetic patients as a risk factor for diabetic retinopathy and to establish the changes in Platelet indices & count in diabetic patient as compared to the healthy control group.
Patients and Methods: The study included 40 patients with Type 2 Diabetes Mellitus. They were divided into 2 equal groups, 20 patients with Diabetic Retinopathy, 20 patients without Diabetic Retinopathy. Patients were selected from those attending the outpatient Ophthalmology Unit and Diabetes Clinic of Al-Zahraa University Hospital in the period from June 2014 to June 2015. Their ages ranged between 34 to 66 years old. They were 14 males and 26 females. Twenty cases apparently healthy individuals were selected as a control group. All cases were subjected to full history taking and complete ophthalmological examination. Also laboratory investigations were done including complete blood picture, kidney and liver function tests, coagulation profile, urine analysis, lipid profile, fasting and postprandial blood sugar and Genetic study for detection of MTHFR gene C677T mutation (rs 1801133)by real time PCR.
Results: In all diabetic patients the mutant homozygous TT showed a highly statistically significant increase in FBS (p=0.000), PPBS (p=0.000), HbA1C (p=0.000) and cholesterol (p=0.001) as compared to wild type. Also in all diabetic patients the mutant homozygous TT showed a highly statistically significant increase in FBS (p=0.002), PPBS (p=0.001), HbA1C (p=0.019) and cholesterol (p=0.012) as compared to heterozygous mutant type.
Conclusion: The homozygous mutant type (TT) of rs1801133 was detected in 10% of DR patients group while absent in DWR group and the control group. The heterozygous mutant type (CT) was increased in DR group (50%) as compared to DWR group (35%) and the control group (25%).

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