SLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathy

Siokas, Vasileios; Fotiadou, Anastasia; Dardiotis, Efthimios; Kotoula, Maria; Tachmitzi, Sophia V.; Chatzoulis, Dimitrios Z; Ζιντζαράς, Ηλίας; Stefanidis, Ioannis; Tsironi, Evangelia E.

doi:10.1159/000480241

Cited by 14 publications

(10 citation statements)

References 33 publications

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“…SLC2A1 XbaI (rs841853) also fails to show any association with diabetic retinopathy in Chinese patients with type 2 DM 29. In contrast, Siokas et al30 reported that the tag SLC2A1 polymorphism is associated with diabetic retinopathy and DN in Greek patients with type 2 DM. Roy et al31 also showed that the SLC2A1 polymorphism is associated with the progression of diabetic retinopathy in African-Americans with type 1 DM.…”

Section: Discussionmentioning

confidence: 95%

Associations between theHaeIIISingle Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus

et al. 2019

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Background Diabetic nephropathy (DN) is the most serious microvascular complication of diabetes mellitus and is one of the leading causes of end stage renal failure. In previous studies, the contribution of genetic susceptibility to DN showed inconsistent results. In this study, we investigated the association between the solute carrier family 2 facilitated glucose transporter member 1 (SLC2A1) HaeIII polymorphism and DN in Korean patients with type 2 diabetes mellitus (T2DM) according to disease duration. Methods A total of 846 patients with T2DM (mean age, 61.3 ± 12.3 years; mean duration of T2DM, 10.3 ± 7.9 years; 55.3% men) who visited the Chungbuk National University Hospital were investigated. The HaeIII polymorphism of the SLC2A1 gene was determined by the real time polymerase chain reaction method. Genotyping results were presented as GG, AG, or AA. A subgroup analysis was performed according to duration of T2DM (≤ 10 years, > 10 years). Results The AG + AA genotype showed a significantly higher risk of DN compared with the GG genotype in patients with a type 2 DM duration less than 10 years (12.4% vs. 4.2%; P < 0.001). No significant differences were observed in terms of other diabetic complications, including retinopathy, peripheral neuropathy, cardiovascular disease, cerebrovascular disease or peripheral artery disease, according to the genotypes of the SLC2A1 HaeIII polymorphism. Conclusion The SLC2A1 HaeIII polymorphism was associated with DN in Korean patients with T2DM, particularly in the group with a relatively short disease duration.

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Section: Discussionmentioning

confidence: 95%

Associations between theHaeIIISingle Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus

et al. 2019

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“…The solute carrier family 1 – glial affinity glutamate transporter-member 2 (SLC1A2) gene, [also known as Excitatory amino acid transporter 2 (EATT2) or glutamate transporter 1 (GLT-1)], encodes SLC1A2, a member of the group of solute transporter proteins [ 45 ]. Elevated levels of glutamate in the synaptic cleft and extracellularly are neurotoxic and have been associated with neurodegeneration.…”

Section: Resultsmentioning

confidence: 99%

Genetic Risk Factors for Essential Tremor: A Review

Siokas

Aloizou

Tsouris

et al. 2020

Tremor and Other Hyperkinetic Movements

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Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ET, but consistent results failed to be reported raising the need for collaborative multiethnic studies. Background: Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, with other parts of the body possibly involved. While the pathophysiology of ET is still unclear, there is accumulating evidence indicating that genetic variability may be heavily involved in ET pathogenesis. This review focuses on the role of genetic risk factors in ET susceptibility. Methods: The PubMed database was searched for articles written in English, for studies with humans with ET, controls without ET, and genetic variants. The terms "essential tremor" and "polymorphism" (as free words) were used during search. We also performed meta-analyses for the most examined genetic variants. Results: Seventy four articles concerning LINGO1,

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“…However, only a few genetic reports support possible pleiotropy between DN and DR 16 17 34 35. Hosseini et al 36 tested previous suggestive signals for DN for association with severe DR, but none of the loci showed a significant association after multiple testing.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, genetic loci with pleiotropic effects, whereby one genetic locus can affect more than one phenotype, may underlie the association between DR and DKD phenotypes 15. However, to date only a few genetic polymorphisms have been reported to be associated with these two complications, including interleukin (IL)-1016 and SLC2A1 17…”

Section: Introductionmentioning

confidence: 99%

Lack of association of genetic variants for diabetic retinopathy in Taiwanese patients with diabetic nephropathy

Hsieh

Huang

Yang

et al. 2020

BMJ Open Diab Res Care

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ObjectiveDiabetic nephropathy (DN) and diabetic retinopathy (DR) comprise major microvascular complications of diabetes that occur with a high concordance rate in patients and are considered to potentially share pathogeneses. In this case-control study, we sought to investigate whether DR-related single nucleotide polymorphisms (SNPs) exert pleiotropic effects on renal function outcomes among patients with diabetes.Research design and methodsA total of 33 DR-related SNPs were identified by replicating published SNPs and via a genome-wide association study. Furthermore, we assessed the cumulative effects by creating a weighted genetic risk score and evaluated the discriminatory and prediction ability of these genetic variants using DN cases according to estimated glomerular filtration rate (eGFR) status along with a cohort with early renal functional decline (ERFD).ResultsMultivariate logistic regression models revealed that the DR-related SNPs afforded no individual or cumulative genetic effect on the nephropathy risk, eGFR status or ERFD outcome among patients with type two diabetes in Taiwan.ConclusionOur findings indicate that larger studies would be necessary to clearly ascertain the effects of individual genetic variants and further investigation is also required to identify other genetic pathways underlying DN.

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SLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathy

Cited by 14 publications

References 33 publications

Associations between theHaeIIISingle Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus

Associations between theHaeIIISingle Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus

Genetic Risk Factors for Essential Tremor: A Review

Lack of association of genetic variants for diabetic retinopathy in Taiwanese patients with diabetic nephropathy

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