Panduru N.M.,Nicolae C Paulescu National Institute For Diabetes |
Cimponeriu D.,University of Bucharest |
Cruce M.,University of Medicine and Pharmacy of Craiova |
Ion D.A.,Carol Davila University of Medicine and Pharmacy |
And 7 more authors.
Romanian Journal of Morphology and Embryology | Year: 2010
Diabetic nephropathy is a major complication of type 1 diabetes whose pathogenesis is insufficiently known, but oxidative stress and genetic susceptibility seem to be involved. The purpose of this study is to assess the possible association of +35A/C (rs2234694) polymorphism in SOD1-gene with advanced stages of diabetic nephropathy in patients with type 1 diabetes in Romania. There have been enrolled 238 unrelated patients, having type 1 diabetes, divided into group A (106 patients) with diabetic nephropathy - macroalbuminuria or ESRD (End Stage Renal Disease) and group B (132 patients) without diabetic nephropathy. The genomic DNA was extracted from the peripheral venous blood and the genotyping of +35A/C (rs2234694) polymorphism has been made using the PCR-RFLP technique. The statistical analysis has been made using De Finetti's program. There has not been a significant deviation from the Hardy-Weinberg equilibrium for any group (p=0.229 and p=0.894, respectively). The data analysis revealed that the presence of a C-allele confers a significant risk (p=0.008) for the advanced diabetes nephropathy (OR=4.940, 95% C.I.=1.341-18.198), and the CA-genotype (p=0.015) confers a little lower risk (OR=4.491, 95% C.I.=1.203-16.766). This study shows the association of a mutant C-allele of rs2234694 polymorphism in SOD1-gene with the advanced stages of diabetic nephropathy in patients with type 1 diabetes in Romania, suggesting the involvement of the defense against oxidative stress, as an important link in the pathogeny of diabetic nephropathy. Source
Stavarachi M.,University of Bucharest |
Panduru N.M.,Carol Davila University of Medicine and Pharmacy |
Serafinceanu C.,Nicolae C Paulescu National Institute For Diabetes |
Mota E.,University of Medicine and Pharmacy of Craiova |
And 3 more authors.
Romanian Journal of Morphology and Embryology | Year: 2012
SELL (L-selectin) is a candidate gene for several complex diseases including diabetes mellitus and renal failure. Our aim was to investigate the involvement of P213S SELL gene polymorphism (rs2229569) in type 2 diabetes mellitus (T2DM) and related end stage renal disease (ESRD). Type 2 diabetes mellitus patients without ESRD (n=250) or with ESRD (n=90), ESRD patients without diabetes (n=119) and sex and age matched healthy subjects (n=459) were analyzed in this study. DNA samples from all these subjects were genotyped for the P213S polymorphism by PCR-RFLP technique. Statistical analysis indicated that SELL P213S genotypes and alleles were similar distributed in the patients and control groups (ORSS=0.37, CI 95%: 0.131>0.372>1.06, p=0.05, Yate's correction p=0.09, for T2DM patients without ESRD, ORSS=2.04, CI 95%: 0.365>2.047>1.465, p=0.4, Yate's correction p=0.67, for T2DM patients with ESRD and ORSS=1, CI95%: 0.198>1>5.057, p=1, Yate's correction p=0.67, for non-diabetic with ESRD patients). Also, no significant differences were noticed when we compared the ESRD subjects with diabetes vs. non-diabetic ones (OR=1.798, CI 95%: 0.392>1.798>8.245, p=0.44, Yate's correction p=0.7). No statistically significant results were found in order to sustain the hypothesis of association between SELL gene P213S polymorphism, type 2 diabetes mellitus and end stage renal disease. Source
Pompilia A.,University of Bucharest |
Danut C.,University of Bucharest |
Sonia S.,University of Bucharest |
Mihai T.,University of Bucharest |
And 6 more authors.
Romanian Biotechnological Letters | Year: 2013
The Neuronal Apoptosis Inhibitory Protein (NAIP) has anti-apoptotic effects in different cells and is up-regulated during pre-adipocytes differentiation. Our aim was to test the potential association between NAIP exon 5 homozygous deletion and overweight or obesity. DNA samples from overweight (n=75), obese (n=75), overweight type 2 diabetes (T2DM) with proteinuria (n=75) and healthy subjects with normal weight (n=225) were used. NAIP mutation was detected using PCR based methods. Fisher, Pearson and Mann-Whitney U tests were used for comparison between lots. A P-value <0.05 was considered statistically significant. The frequency of NAIP exon 5 homozygous deletion in the cases was in the range between 0% and 1.33%, whereas in the control lots the frequency of the deletion was 1.33%. The frequency of this homozygous deletion in control group (1.33%) was in the range of data reported for other populations. The present study showed that the NAIP exon 5 homozygous deletion is not an important contributor to predisposition for the common form of obesity or overweight (with or without T2DM) status in our patients. © 2013 University of Bucharest. Source
Cristina C.,Titu Maiorescu University |
Elena R.,Titu Maiorescu University |
Vasilica C.,Titu Maiorescu University |
Lavinia-Mariana B.,National Institute of Research and Development for Food Bioresources |
And 6 more authors.
Romanian Biotechnological Letters | Year: 2014
T1DM patients without clinical proteinuria (n= 80) and healthy controls (n= 80) were included in this study. The Insulin -23Hph (T/A), Insulin +1127Pst1 (C/T), IGF2 Apa (820 G/A), SELL P213S polymorphisms and NAIP exon 5 deletion were genotyped in all samples. All genotypes were similarly distributed in subjects stratified according to gender. The exon 5 of NAIP gene was present in all samples and this polymorphism was excluded from further analysis. The distribution of Insulin -23Hph, Insulin +1127Pst, IGF2 Apa, SELL P213S genotypes in patients and controls are in agreement with Hardy-Weinberg equilibrium. The Insulin -23Hph AA genotype is significantly associated with T1DM (O.R. AA vs. non-AA = 4.26; 95%CI: 2.06-8.8; p<0.0001). No other significant differences of genotypes, alleles or combined genotypes were detected between investigated markers and diabetes. We found a strong association of polymorphisms from IDDM2 with T1DM in our population. © 2014 University of Bucharest. Source