ABSTRACT
An association study was conducted to investigate the relation between 14 variants of glucose transporter 1 gene (SLC2A1) and the risk of type 2 diabetes (T2DM) leading to nephropathy. We also performed a meta-analysis of 11 studies investigating association between diabetic nephropathy (DN) and SLC2A1 variants. The cohort included 197 cases (T2DM with nephropathy), 155 diseased controls (T2DM without nephropathy) and 246 healthy controls. The association of variants with disease progression was tested using generalized odds ratio (ORG). The risk of type 2 diabetes leading to nephropathy was estimated by the OR of additive and co-dominant models. The mode of inheritance was assessed using the degree of dominance index (h-index). We synthesized results of 11 studies examining association between 5 SLC2A1 variants and DN. ORG was used to assess the association between variants and DN using random effects models. Significant results were derived for co-dominant model of rs12407920 [OR = 2.01 (1.17-3.45)], rs841847 [OR = 1.73 (1.17-2.56)] and rs841853 [OR = 1.74 (1.18-2.55)] and for additive model of rs3729548 [OR = 0.52 (0.29-0.90)]. The mode of inheritance for rs12407920, rs841847 and rs841853 was 'dominance of each minor allele' and for rs3729548 'non-dominance'. Frequency of one haplotype (C-G-G-A-T-C-C-T-G-T-C-C-A-G) differed significantly between cases and healthy controls [p = .014]. Regarding meta-analysis, rs841853 contributed to an increased risk of DN [(ORG = 1.43 (1.09-1.88); ORG = 1.58 (1.01-2.48)] between diseased controls versus cases and healthy controls versus cases, respectively. Further studies confirm the association of rs12407920, rs841847, rs841853, as well as rs3729548 and the risk of T2DM leading to nephropathy.
Subject(s)
Diabetes Mellitus, Type 2/complications , Diabetic Nephropathies/genetics , Genetic Variation , Glucose Transporter Type 1/genetics , Aged , Aged, 80 and over , Alleles , Case-Control Studies , Female , Gene Frequency , Genetic Predisposition to Disease , Humans , Logistic Models , Male , Middle Aged , Risk FactorsSubject(s)
Complement System Proteins/genetics , Geographic Atrophy/genetics , High-Temperature Requirement A Serine Peptidase 1/genetics , Polymorphism, Single Nucleotide , Proteins/genetics , Wet Macular Degeneration/genetics , Aged , Female , Genotyping Techniques , Geographic Atrophy/diagnosis , Greece/epidemiology , Humans , Linkage Disequilibrium , Male , Risk Factors , Wet Macular Degeneration/diagnosis , White People/geneticsABSTRACT
There is a recognized association between the presence of anticardiolipin antibodies and vascular occlusive disease. The purpose of our study is to detect the presence of high titers of anticardiolipin antibodies (ACA) in the serum and to correlate the titers with the severity of the vascular disease in patients with occlusive ocular vascular disease. 82 patients were included in a prospective study; 25 patients with anterior ischaemic optic neuropathy, 36 with retinal vein occlusion and 21 with retinal artery occlusion. ACA (IgG and IgM isotypes) were measured by ELISA in the sera of all patients. The group of the patients (group A) was compared to an age-matched control group of 79 healthy individuals (group B). IgG isotype (but not IgM) titers of ACA were found significantly higher in group A (P < 0.001). In patients with titers of ACA (IgG isotype) > 100 units we noted a higher incidence of a more severe disease (recurrency, involvement of both eyes or extraocular manifestations) especially among those with anterior ischaemic optic neuropathy and secondarily in those with retinal artery occlusion. Our results suggest that the association between high titers of ACA and occlusive vascular disease of the eye concerns only the IgG isotype. In addition, the detection of high titers of IgG/AGA in patients could be a useful marker for disease severity and prognosis and this observation seems to be more explicit in cases with arterial occlusive disease than in cases with venous occlusive disease.
