Yazan: admin Tarih: Kas 30th, 2010 | Kategori::
Diabetic Retinopathy,
ROCK2 Gene
Curr Eye Res. 2010 Oct 20.
Demiryurek AT, Erbagci I, Oztuzcu S, Alasehirli B, Ozkara E, Seker M, Sönmez A, Ozsan M, Camci C.
Department of Pharmacology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
Abstract
Purpose: To analyze the genotype distributions and allele frequencies for ROCK2 Thr431Asn and Arg83Lys polymorphisms among the diabetic retinopathy patients in a Turkish population. Methods: In this case-control study, 335 patients with diabetes mellitus were recruited and divided into three groups according to non-proliferative (n = 127), proliferative (n = 85) diabetic retinopathy, and no retinopathy (n = 123, served as a diabetic control group). Genomic DNA from the patients, and the nondiabetic healthy control cases (n = 132) was analyzed by real-time PCR using a Light-Cycler. Results: Neither genotype distributions nor the allele frequencies for the Thr431Asn or Arg83Lys polymorphisms showed a significant difference between the groups. The haplotypes were also not significantly associated with diabetic retinopathy. Conclusion: These results suggest that there were no evidence for an association of ROCK2 gene Thr431Asn and Arg83Lys polymorphisms with diabetes or diabetic retinopathy in the Turkish population.
Yazan: admin Tarih: Tem 23rd, 2010 | Kategori::
Gene polymorphisms
Cell Biochem Funct. 2010 Jun;28(4):274-7.
Büyük U, Ates O, Dalyan L, Müsellim B, Ongen G, Topal-Sarikaya A.
Department of Molecular Biology and Genetics, Istanbul University, Turkey. atopal@istanbul.edu.tr
Abstract
Systemic sclerosis (SSc) is an autoimmune disease characterized by inflammation and fibrosis of the skin and visceral organs. Fibrosis associated with SSc is characterized by an increased synthesis of a wide range of extracellular matrix (ECM). TGF-beta is a pluripotent cytokine in a wide range of cell types. In particular it has been found to be a potent inducer of ECM protein synthesis and fibroblast migration. The TGF-beta1 gene is highly polymorphic and two signal sequence polymorphisms at codon 10 and codon 25 are linked to disease outcomes. In this study, we analysed two polymorphic sites of the TGF-beta1 gene, codon 10 and codon 25, in 43 Turkish SSc female patients with interstitial lung involvement and in 75 healty individuals by ARMS-PCR. In our study no significant difference was found in codon 10, codon 25 genotype frequencies between patient with SSc and the control group (p = 0.676, 0.375, respectively). Our findings suggest that codon 10 and 25 polymorphism cannot be related with SSc for Turkish population. 2010 John Wiley & Sons, Ltd.
Yazan: admin Tarih: Şub 3rd, 2010 | Kategori::
Paraoxanase gene
Turk Kardiyol Dern Ars. 2009;37(7):473-478.
Taşkıran P, Cam SF, Sekuri C, Tüzün N, Alioğlu E, Altıntaş N, Berdeli A.
Department of Medical Biology and Genetics, Medicine Faculty of Celal Bayar University, Manisa, Turkey.
OBJECTIVES: Paraoxonase (PON1) is a high-density lipoprotein (HDL)-associated esterase that hydrolyses lipoperoxides. PON1 serves as a protective factor against oxidative modification of LDL, suggesting that it may play an important role in the prevention of atherosclerotic process. Research has focused on two polymorphisms: leucine (L allele) to methionine (M allele) substitution at codon 55, and glutamine (A allele) to arginine (B allele) substitution at codon 192. STUDY DESIGN: We examined amino acid changes at codon 55 and 192 in the PON1 gene by polymerase chain reaction and using restriction enzymes in 120 patients (92 men, 28 women; mean age 48.2+/-4.3 years) with premature coronary artery disease (CAD) and in 102 healthy subjects (80 men, 22 women; mean age 46.8+/-5.2 years) with no history of CAD and a normal electrocardiogram. RESULTS: Distribution of genotypes in the patient and control groups at codon 55 were 6.7% and 4.9% for MM, 46.7% and 29.4% for LM, 46.7% and 65.7% for LL, respectively. The frequency of genotypes at codon 192 were as follows: 4.2% and 2% for RR, 40% and 35.3% for QR, and 55.8% and 62.8% for QQ, respectively. While the frequency of PON1 55M allele was higher in the CAD group (0.3 vs. 0.2), PON1 192R allele frequency did not differ (p>0.05). There was a significant relationship between the PON1 M/L55 polymorphism and CAD (p=0.017), whereas the R/Q192 polymorphism was not associated with CAD (p=0.445). CONCLUSION: These data suggest that the PON1 M/L55 polymorphism shows a significant relationship with CAD and the Q/R192 polymorphism is not a major risk factor causing susceptibility to CAD in our population.
Yazan: admin Tarih: Ağu 23rd, 2008 | Kategori::
Diabetes Mellitus
Anadolu Kardiyol Derg. 2005 Sep;5(3):182-6.
- Comment in:
- Anadolu Kardiyol Derg. 2005 Sep;5(3):187-8.
Department of Genetics, Institute for Experimental Medical Research, Istanbul Medical School, Istanbul University, Istanbul, Turkey.
OBJECTIVE: The glycoprotein Ia/IIa complex is a major platelet collagen receptor. Its surface expression is influenced by two linked single nucleotide polymorphisms (C807T and G873A) in the glycoprotein Ia (GPIa) gene. In this study we aimed to determine the frequency of GPIa C807T/G873A genotype in patients with myocardial infarction (MI) and healthy controls in Turkish population and association between these dimorphisms and risk factors of MI. METHODS: We examined GPIa (C807T/G873A) genotypes in 158 patients with MI and 145 healthy controls. Distributions of the C807T and G873A dimorphisms were investigated by genotyping DNA using multiplexed allele-specific PCR. RESULTS: There was no association between GPIa genotypes and MI. We further analysed each group for all known risk factors such as plasma lipid levels, cigarette smoking, diabetes, hypertension, gender, age, MI history and body mass index. When compared with other two genotypes for glycoprotein Ia (GT/GA and CC/GG), TT/AA showed an association with higher high-density lipoprotein (HDL) -cholesterol levels in the healthy control group, but none in the group with MI. CONCLUSION: The 807TT/873AA genotype of the GPIa gene alone or in combination with risk factors had no major effect on MI, however, it appears to be associated with higher HDL-cholesterol levels in healthy subjects.
