| Proteasome Modulator 9 gene is linked to diabetic and non-diabetic retinopathy in T2D. | |
| | |
MedLine Citation:
|
PMID: 21728808 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Background: Diabetic retinopathy is a long-term complication of type 2 diabetes (T2D). Non-diabetic retinopathy may be present in T2D patients as well and non-T2D patients with hypertension and/or atherosclerosis. The aim of this study was to identify linkage of the proteasome modulator 9 (PSMD9) T2D risk variants IVS3+nt460, IVS3+nt437, E197G to diabetic retinopathy and retinopathy including also atherosclerotic or hypertensive retinopathy in Italian T2D families. Materials and Methods: A total of 126 siblings of our 200 T2D siblings/families were characterized for diabetic retinopathy or retinopathy. The clinical characterization is based on a fundus oculi exam and on fluorangiography of the participating subjects. Diabetic retinopathy includes both pre-proliferative and proliferative retinopathy. The common gene variants were directly amplified by PCR and by fluorescent-based automation. A parametric and non-parametric linkage study of the gene variants with diabetic retinopathy and retinopathy was then performed using Merlin software. Finally, 1000 simulation analyses were performed to test for the statistical power of the significant results (P-value ≤ 0.05). Results: This study shows a linkage of the PSMD9 IVS3+nt460 (rs74421874), IVS3+nt437 (rs3825172) and E197G (rs14259) single nucleotide polymorphisms (SNPs) to diabetic and non-diabetic retinopathy by using the non-parametric as well as the parametric linkage analysis. The strongest signal is present for the PSMD9 variants with the diabetic retinopathy, in particular under the additive model. The 1,000 simulations performed for each significant test confirmed that the results are not due to random chance. Conclusions: In summary, the PSMD9 IVS3+nt460, IVS3+nt437, E197G SNPs are linked to diabetic retinopathy and non-diabetic retinopathy in Italians. |
| | |
Authors:
|
Claudia Gragnoli |
Related Documents
:
|
8436258 - Stiffening of connective tissue in elderly diabetic patients: relevance to diabetic nep... 18842318 - The current clinical problems for early phase of diabetic nephropathy and approach for ... 2612718 - The effect of blood pressure intervention on renal function in insulin-dependent diabetes. 12119058 - Losartan and diabetic nephropathy: commentaries on the renaal study. 9452458 - In vitro reconstitution of glucose-induced targeting of fructose-1, 6-bisphosphatase in... 21972198 - Diabetes risk in rheumatoid arthritis: reduced incidence with anti-tumor necrosis facto... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-7-5 |
Journal Detail:
|
Title: Ophthalmic genetics Volume: - ISSN: 1744-5094 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
|
Created Date: 2011-7-6 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular & Molecular Physiology and Biostatistics, Penn State University and M. S. Hershey Medical Center , Hershey, Pennsylvania , USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Eccentric Cycle Exercise in Severe COPD: Feasibility of Application.
Next Document: Strabismus, refractive errors and nystagmus in children and young adults with Down syndrome.