Navdeep Kaur1, Vanita Vanita2. 1. Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India. Electronic address: navdeepsidhu2490@gmail.com. 2. Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India. Electronic address: vanita_kumar@yahoo.com.
Abstract
AIMS: Present study aimed to investigate the association of aldose reductase (AKR1B1) gene polymorphism (-106C>T; rs759853) with diabetic retinopathy (DR) in type 2 diabetes mellitus (T2DM) patients from north India. METHODS: The present case-control association study recruited 926 subjects, including 487 DR patients and 439 individuals with confirmed T2DM as controls (CDR). AKR1B1 -106C>T polymorphism analysis in these 926 subjects was performed by polymerase chain reaction and direct DNA sequence analysis. Statistical analysis was performed using SPSS package. RESULTS: Statistically significant differences were observed between the two analyzed groups in the age of onset of diabetes (p=0.000) and duration of diabetes (p=0.000). Genotype distribution of AKR1B1 -106C>T polymorphism differed significantly between DR and CDR groups (p=0.02), however, distribution of allele frequency did not differ significantly (p=0.19). Binary logistic regression analyses showed an association of homozygous recessive TT genotype with diabetic retinopathy (OR: 1.61%, 95% CI, 1.39-2.284, p<0.01) in comparison to wild type CC genotype. CONCLUSIONS: These findings suggest a statistically significant association of AKR1B1 -106C>T polymorphism with retinopathy in North Indian patients. To our knowledge, this is the first report of association of -106C>T polymorphism in AKR1B1 in DR patients from India.
AIMS: Present study aimed to investigate the association of aldose reductase (AKR1B1) gene polymorphism (-106C>T; rs759853) with diabetic retinopathy (DR) in type 2 diabetes mellitus (T2DM) patients from north India. METHODS: The present case-control association study recruited 926 subjects, including 487 DR patients and 439 individuals with confirmed T2DM as controls (CDR). AKR1B1 -106C>T polymorphism analysis in these 926 subjects was performed by polymerase chain reaction and direct DNA sequence analysis. Statistical analysis was performed using SPSS package. RESULTS: Statistically significant differences were observed between the two analyzed groups in the age of onset of diabetes (p=0.000) and duration of diabetes (p=0.000). Genotype distribution of AKR1B1 -106C>T polymorphism differed significantly between DR and CDR groups (p=0.02), however, distribution of allele frequency did not differ significantly (p=0.19). Binary logistic regression analyses showed an association of homozygous recessive TT genotype with diabetic retinopathy (OR: 1.61%, 95% CI, 1.39-2.284, p<0.01) in comparison to wild type CC genotype. CONCLUSIONS: These findings suggest a statistically significant association of AKR1B1 -106C>T polymorphism with retinopathy in North Indian patients. To our knowledge, this is the first report of association of -106C>T polymorphism in AKR1B1 in DR patients from India.
Authors: Prarambh S R Dwivedi; Rajesh Patil; Pukar Khanal; Nilambari S Gurav; Vaishali D Murade; Dinesh P Hase; Mohan G Kalaskar; Muniappan Ayyanar; Rupesh V Chikhale; Shailendra S Gurav Journal: RSC Adv Date: 2021-12-09 Impact factor: 4.036