PMID- 23085930
OWN - NLM
STAT- MEDLINE
DCOM- 20130513
LR  - 20221207
IS  - 1432-5233 (Electronic)
IS  - 0940-5429 (Linking)
VI  - 49
IP  - 6
DP  - 2012 Dec
TI  - Endothelial nitric oxide synthase gene polymorphism and type 2 diabetic 
      retinopathy among Asian Indians.
PG  - 481-8
LID - 10.1007/s00592-012-0437-7 [doi]
AB  - Endothelial nitric oxide synthase (eNOS) has been shown to play an essential role 
      in retinal vascular function, and disequilibrium in its production can lead to 
      diabetic retinopathy (DR). Genetic polymorphisms of eNOS gene have been suggested 
      to play a role in nitric oxide (NO) abnormalities which may contribute to the 
      development and progression of DR. In view of the variable results that have been 
      reported for the association between eNOS gene polymorphisms and DR, the present 
      study was designed to study the association and interaction between eNOS gene 
      polymorphisms and the development and progression of DR in Asian Indian type 2 
      diabetes mellitus patients (T2DM). We screened 1,720 T2DM patients, belonging to 
      two independently ascertained cohorts out of which 1,446 were genotyped for three 
      polymorphisms of eNOS (two SNPs: T-786C, G894T and one 27-bp repeat polymorphism 
      in intron 4 (27VNTR)) using validated PCR-RFLP assays. In both the cohorts, 
      consistently lower prevalence and decreased risk of DR was observed in patients 
      with ba, aa and ba + aa genotype of 27VNTR (a/b), C-a-G and C-a-T haplotype 
      (allele of T-786C, 27VNTR a/b and G894T) carrying "C" allele of T-786C and "a" 
      allele of 27VNTR (a/b). Also, mean NO levels in T2DM subjects carrying ba + aa 
      genotype were higher as compared to bb genotype. Our results suggest that eNOS 
      genotypes 27VNTR carrying "aa" genotype is an independent protective factor for 
      DR and is associated with low risk of DR.
FAU - Cheema, Balneek Singh
AU  - Cheema BS
AD  - Department of Experimental Medicine and Biotechnology, Post Graduate Institute of 
      Medical Education and Research, Chandigarh, India.
FAU - kohli, Harbir Singh
AU  - kohli HS
FAU - Sharma, Rajni
AU  - Sharma R
FAU - Bhansali, Anil
AU  - Bhansali A
FAU - Khullar, Madhu
AU  - Khullar M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20121021
PL  - Germany
TA  - Acta Diabetol
JT  - Acta diabetologica
JID - 9200299
RN  - EC 1.14.13.39 (NOS3 protein, human)
RN  - EC 1.14.13.39 (Nitric Oxide Synthase Type III)
SB  - IM
MH  - Asian People/statistics & numerical data
MH  - Case-Control Studies
MH  - Cohort Studies
MH  - DNA Mutational Analysis
MH  - Diabetes Mellitus, Type 2/*complications/ethnology/*genetics
MH  - Diabetic Retinopathy/ethnology/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - India/epidemiology
MH  - Male
MH  - Minisatellite Repeats/genetics
MH  - Nitric Oxide Synthase Type III/*genetics
MH  - *Polymorphism, Genetic/physiology
MH  - Polymorphism, Single Nucleotide
MH  - Validation Studies as Topic
EDAT- 2012/10/23 06:00
MHDA- 2013/05/15 06:00
CRDT- 2012/10/23 06:00
PHST- 2012/09/11 00:00 [received]
PHST- 2012/10/08 00:00 [accepted]
PHST- 2012/10/23 06:00 [entrez]
PHST- 2012/10/23 06:00 [pubmed]
PHST- 2013/05/15 06:00 [medline]
AID - 10.1007/s00592-012-0437-7 [doi]
PST - ppublish
SO  - Acta Diabetol. 2012 Dec;49(6):481-8. doi: 10.1007/s00592-012-0437-7. Epub 2012 
      Oct 21.