ABSTRACT
There are about 40% of patients with type 1 and type 2 diabetes will develop diabetic nephropathy (DN), resulting in chronic kidney disease and potential organ failure. During the progression and development of DN, chronic elevated blood glucose (hyperglycaemia) together with glomerular hypertension leads to renal inflammation, progressive glomerulosclerosis and tubulointerstitial fibrosis resulting in organ failure. Genetic variants at a biomarker level could allow the detection of those individuals at high risk for diabetic nephropathy which could thus help in the treatment, diagnosis and early prevention of the disease. Current genome-wide relationship scans have recognized a number of chromosomal regions that possible include diabetic nephropathy susceptibility genes, and association analyses have evaluated positional applicant genes under these relation peaks. The possibility of increasing diabetic nephropathy is recovered several times by inheriting risk alleles at susceptibility loci of dissimilar genes like GST (glutathione-Stransferase), TCF (Transcription factor), ELMO1 (Engulfment and Cell Motility 1), IL-10 (Interleukin-10) and TRPC1 (transient receptor potential channel 1). The identification of these genetic variants at a biomarker level could thus, allow the detection of those individuals at high risk for diabetic nephropathy which could thus help in the treatment, diagnosis and early prevention of the disease.
ABSTRACT
Age-related cataract has globally emerged as the leading cause visual impairment leading to blindness. Glutathione S-Transferases and their genetic variantsplay an important role in pathogenesis of cataract. This case-control study was carried out to investigate possible association of GSTT1/M1 polymorphism with Cataract risk in North Indians. Our study included 221 individuals, 132 as Cataract cases (70 with and 62 without hypertension) and 89 age and ethnicity matched controls. Genetic polymorphism in GST gene (GSTT1/M1 polymorphism) wasevaluated by multiplexPolymerase Chain Reaction (PCR) technique.The frequencies of the GSTM1-positive and GSTT1-positive in hypertensive cataract cases were 55.71%, 92.86%; while they were 61.29% and 95.16% in cataract cases without hypertension and; 46.07% and 97.75% in healthy controls respectively. The frequencies of GSTM1-null and GSTT1-null in hypertensive cataract cases were 44.29% and 7.14% %; while they were 38.71% and 4.84% in cataract cases without hypertension and; 53.93% and 2.25% in healthy controls respectively. The frequency of GSTT1/M1 positive wild type genotype was 48.57% in hypertensive and 56.45% in normotensive cataract cases while it was 43.82% in control subjects. Our study found no association between GSTT1/M1 polymorphism with cataract but a nearly significant relationship was observed in GSTM1 positive and GSTM1 null genotypes (p=0.065) with cataract in subjects without hypertension. The study needs furtherinvestigation due to limited sample size.