TY - JOUR
T1 - Diabetic retinopathy
T2 - Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort
AU - Uthra, Satagopan
AU - Raman, Rajiv
AU - Mukesh, Bickol N.
AU - Rajkumar, Samuel A.
AU - Kumari, Padmaja
AU - Lakshmipathy, Praveena
AU - Gnanamoorthy, Perumal
AU - Sharma, Tarun
AU - McCarty, Catherine A.
AU - Kumaramanickavel, Govindasamy
PY - 2010/12
Y1 - 2010/12
N2 - Purpose: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)15 allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)13 promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)9 allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes. Materials and Methods: Type 2 diabetic patients with and without retinopathy (DR and DR- respectively) were recruited. (CA)n repeat, Gly82Ser, (CCTTT) n repeat and (GT)n repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests. Results: Different allelic associations were observed in the present study as compared to our previous reports. Z2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study. Conclusion: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report.
AB - Purpose: We previously reported the association of the Z-2 allele of the promoter dinucleotide repeat in the Aldose reductase (ALR2) gene, the (CCTTT)15 allele in the promoter of inductible nitric oxide synthase (iNOS) gene, and the (GT)13 promoter polymorphism in the tumor necrosis factor β (TNFB) gene with an increased risk for diabetic retinopathy (DR), and the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene and the (GT)9 allele of the TNFB gene with low-risk for DR in a hospital-based self-reported type 2 diabetes mellitus (T2DM) patients. We have repeated the study in a population-based south Indian cohort to validate the same variations in these genes. Materials and Methods: Type 2 diabetic patients with and without retinopathy (DR and DR- respectively) were recruited. (CA)n repeat, Gly82Ser, (CCTTT) n repeat and (GT)n repeat in ALR2, RAGE, iNOS and TNFB genes respectively were genotyped and their frequencies were analyzed using the relevant statistical tests. Results: Different allelic associations were observed in the present study as compared to our previous reports. Z2 allele of ALR2, 13-repeat genotype of iNOS, 15-repeat genotype of TNF-β, genes were associated with susceptibility to DR. Gly82Ser polymorphisms of the RAGE gene were not associated with DR in the present study. Conclusion: The present data show a difference in the association of variations in ALR2, iNOS and TNFB genes with DR, when compared to our previous reports; this could be attributed to differences between the study populations of the past and present report.
KW - Diabetic retinopathy
KW - T2DM
KW - gene variations
KW - south india
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U2 - 10.3109/13816810.2010.523037
DO - 10.3109/13816810.2010.523037
M3 - Article
C2 - 21067489
AN - SCOPUS:78649263405
SN - 1381-6810
VL - 31
SP - 244
EP - 251
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
IS - 4
ER -
