Objectives: To find out the gene polymorphism of transcription factor 7/Like2 (TCF7/L2 rs 7903146) in type 2 diabetic subjects with and without retinopathy.

Method: This prospective cross sectional study was designed in Biochemistry Department, Baqai Medical University from March 2021 to April 2022. Subjects were identified from outpatient department of Baqai Institute of Diabetology and Endocrinology (BIDE) and categorized into three groups: Group A (healthy subjects without diabetes), Group B (T2DM subjects with retinopathy), Group C (T2DM subjects without retinopathy). Predesigned proforma was used for baseline characteristics and blood sample was collected for biochemical parameters and genetic analysis. Biochemical analysis was done at BIDE and genetic analysis at University of Karachi.

Results: Total of 148 subjects were recruited, 74 in Group A, 25 in Group B and 49 in Group C. Mean age (years) of group A, group B and group C was 43.27±9.45, 54.0±13.2 and 51.2±10.8, respectively. In all the groups, males and females ratio were almost equal. Results for systolic blood pressure, fasting blood glucose, HbA1c, triglycerides and low density lipoprotein cholesterol were found significant (p<0.05) between the groups. The TT genotype of TCF7/L2 rs 7903146 was observed to be abundant in group B (0.80) than group C (0.39) and group A (0.1). While, the CT genotype was found higher in group A (0.77) and group C (0.59) than in group A (0.20). Moreover, the proportion of mutant T allele was predominantly higher in group B (0.90) and group C (0.68) than group A (0.40).

Conclusion: Overall, homozygous TT genotype of TCF7L2 rs7903146 polymorphism was found dominant in T2DM subjects with retinopathy and CT genotype was found higher in T2DM subjects without retinopathy and healthy individuals. We also found mutant T allele as predominantly higher in T2DM subjects with and without retinopathy.

Keywords: TCF7L2 rs7903146, gene polymorphism, T2DM, retinopathy