Association of an Osteopontin gene promoter polymorphism with susceptibility to diabetic nephropathy in Asian Indians

Variations in CCR5, but not HFE, ELMO1, or SLC12A3, are associated with susceptibility to kidney disease in north Indian individuals with type 2 diabetes CCR5变异而不是HFE、ELMO1或者SLC12A3变异与印度北部的2型糖尿病患者的肾病易感性相关

“…44,45 Polymorphisms in the dopamine receptor D2 (DRD2) and catechol-O-methyltransferase (COMT) genes were associated with susceptibility to chronic renal insufficiency in an Asian Indian population. 46 In recent studies, the methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), 47 receptor for advanced glycation endproducts (RAGE), glutamine-fructose-6-phosphate transaminase 2 (GFPT2), 48 acetyl-CoA carboxylase beta (ACACB) 49 and osteopontin (OPN) 50 genes have been linked with renal insufficiency in diabetic patients. There are some limitations to the present study.…”

Association between Osteopontin Promoter Gene Polymorphisms and Haplotypes with Risk of Diabetic Nephropathy

“…These gene variants and their associated haplotypes have been found to predict better and more accurate disease association in several diseases [ 7 ]. We have previously shown that a promoter polymorphism in OPN (C-443T) increases the risk of DN in T2D patients [ 11 ]. In the present study, we investigated the association of two other OPN gene promoter polymorphisms (G-66T, delG-156G) and haplotypes of all three promoter polymorphisms with susceptibility to DN in Asian Indians.…”

“…Moreover, the observed differences might be due to some population differences as North Indian population is an ethnically distinct population. Since we were aware that patients with longer duration of diabetes are at risk for long term problems including retinal, renal, cardiac and neurological problems, we reduced the duration of diabetes to five years, however, since all the patients were being exclusively followed up on at the institute for a long time, we turned up into same number of patients as were present in our earlier study [ 11 ] where the duration of disease for inclusion was 10 years.…”

“…Several recent studies have reported association of OPN gene variants with various renal diseases [ 8 , 9 , 10 ]. We have also previously found a modest association between OPN C-443T promoter gene polymorphism and increased risk of DN in T2D [ 11 ]. Functional genomics studies on OPN gene polymorphisms suggest that specific OPN haplotypes affect its expression more profoundly as compared to individual genotypes; for example, a specific OPN haplotype (G-66T, delG-156G, and C-443T) was found to confer a significantly reduced level of reporter gene expression [ 7 ].…”

An osteopontin promoter polymorphism is associated with aggressiveness in breast cancer

“…In diseases with autoimmune components, the published results likewise point to a complex role for the SNP in position -443. Nephropathy in diabetes is more common in carriers of the T allele (23), which may reflect increased inflammation due to high osteopontin expression. Conversely, thrombocytopenia and hemolytic anemia in lupus have an autoantibody-mediated pathogenesis, which is supported by osteopontin, more strongly in carriers of the C allele (24).…”