Evidence map›Paper›PMID 31902046›Full record

ArticleInternational ophthalmology2020

Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients.

Sahar Gohari-Lasaki, Alireza Sharafshah, Saima Abbaspour, Parvaneh Keshavarz

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Article in International ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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3 citing papers in PubMed.

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5 · Who and what money

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4 authors.

Sahar Gohari-LasakiCellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
Alireza SharafshahCellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
Saima AbbaspourSchool of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
Parvaneh KeshavarzCellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran. keshavarz@gums.ac.ir.ORCID http://orcid.org/0000-0002-1093-6051

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6 · The paper itself

Abstract

purposeThe present study was designed to investigate the associations of ENPP1 variants (rs997509, rs1799774, rs1044498 (K121Q), and rs7754561) with diabetic retinopathy (DR) derived from type 2 diabetes mellitus (T2DM).

methodsTotal 501 T2DM patients with and without DR were studied as the case and control group, respectively. All four variants were genotyped by TaqMan assay. Statistical analyses were performed through SNPAlyze and SPSS software.

resultsThe statistical analysis of clinical characteristics represented significant differences of HbA1c, and fasting blood sugar between two study groups. The results indicated that among four studied variants, rs997509 and rs7754561 were significantly associated with DR under recessive (P = 0.01) and dominant (P = 0.01) models of inheritance, respectively. One haplotype (T-A-T-A) with a frequency higher than 0.05 was associated with the increased risk of DR (P = 0.04). Genotype-phenotype sub-analysis of rs997509 and rs7754561 showed that only rs7754561 had significant associations with systolic and diastolic blood pressures (P = 0.03 and P = 0.01, respectively); more specifically, A allele carriers of rs7754561 were in a higher risk of blood pressures.

conclusionsThis study suggested that rs997509 and rs7754561 were associated with the increased risk of DR among Iranians with T2DM and rs7754561 might be a potential genetic marker for prognosis and diagnosis of DR.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideDiabetes Mellitus, Type 2Diabetic RetinopathyDNAFemaleGene FrequencyHaplotypesHumansMaleMiddle AgedPhosphoric Diester HydrolasesPyrophosphatasesDNAectonucleotide pyrophosphatase phosphodiesterase 1Phosphoric Diester HydrolasesPyrophosphatasesAssociationDiabetic retinopathyENPP1 variantsrs7754561Type 2 diabetes mellitus

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.