Yazan: admin Tarih: Mar 8th, 2009 | Kategori::
Kategorilenmemiş
Faculty of Medicine, Department of Medical Biology, Harran University, Sanliurfa, Turkey.
Type 2 diabetes mellitus (T2DM) is by far the most common type of diabetes and is characterized by insulin resistance and altered insulin secretion. Some genes, such as the vitamin D receptor gene (VDR, NM_001017535; GI: 7421), involved in its metabolic pathway have been regarded as good candidates for T2DM. In this study, we investigated whether there was an association of VDR: g.59979G>T or c.1025-49G>T (ApaIG>T) and g.60058T>C or c.1056T>C (TaqIT>C) polymorphisms in the 3′ untranslated region of VDR with T2DM in a Turkish population. We collected blood samples from 241 individuals (72 patients with T2DM and 169 healthy individuals), and their DNA was isolated. Polymorphisms of the VDR were analyzed by DNA amplification with polymerase chain reaction and endonuclease digestion with ApaI and TaqI. Body mass index was higher in T2DM patients than in control individuals. However, the frequency of g.59979TT genotype in T2DM patients was not significantly increased compared to healthy subjects (37.5% vs. 36.1%, respectively). Although the VDR g.60058CC genotype in T2DM patients (19.4%) was higher than that in healthy individuals (11.2%), there was no significant difference. In the same way, there was no difference between the groups in allele frequencies. In conclusion, our study did not provide evidence for the association of two examined VDR polymorphisms with T2DM in a Turkish 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.
Yazan: admin Tarih: Ağu 23rd, 2008 | Kategori::
Diabetes Mellitus
Genet Test. 2008 Jun;12(2):305-9.
Department of Endocrinology, Gazi University Faculty of Medicine, Ankara, Turkey. drhdemirci@hotmail.com
The association of the gene encoding calpain 10 with type 2 diabetes mellitus (T2DM) has been reported. In this study we aimed to evaluate the association of SNP-19,-44, and -63 polymorphisms of calpain 10 with type 2 diabetes and diabetic-related conditions, such as diabetic retinopathy, nephropathy, and neuropathy in a Turkish population. The study group included 202 patients (133 female and 69 male) with T2DM, while the control group included 80 nondiabetic people (44 female and 36 male). Genotyping was done by the polymerase chain reaction and restriction fragment length polymorphism method. Calpain 10 SNP-44 TC genotype was found to be significantly frequent in type 2 diabetic patients with respect to the control group (p < 0.01). Body mass index (BMI) was found to be significantly high in TC genotype with type 2 diabetic patients (p < 0.05). SNP-44 T allele frequency was found to be lower in type 2 diabetic patients compared with the controls (p < 0.01). We conclude that the calpain 10 SNP-44 gene polymorphism may be accepted as a risk factor in the development of T2DM and elevated BMI in type 2 diabetic patients in a Turkish population.
Yazan: admin Tarih: Ağu 14th, 2008 | Kategori::
Gene polymorphisms,
MnSOD
Cell Biochem Funct. 2005 Jan-Feb;23(1):73-6.
Department of Toxicology, University of Gazi, Pharmacy Faculty, Ankara, Turkey. neslihan@gazi.edu.tr
Within mitochondria, manganese superoxide dismutase (MnSOD) provides a major defence against oxidative damage by reactive oxygen species (ROS). An alanine-9valine (Ala-9Val) polymorphism in the mitochondrial targeting sequence of MnSOD has been described and has recently been associated with risk of human breast cancer. Our present case-control study was performed to explore the association between MnSOD genetic polymorphism and individual susceptibility to breast cancer. Ala-9Val polymorphism in the signal sequence of the protein for MnSOD was determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a study population. There was no significant difference in risk for breast cancer development between patients positive and negative for the MnSOD Ala allele with adjusted odds ratio (OR): 0.86 (95% confidence interval (CI(0.43 to 1.72). When MnSOD Ala was combined with either cytochrome P450 1B1 CYP1B1*1 and catechol O-methyltransferase COMT-L (V158M) genotypes, the risk for developing breast cancer was significantly increased in patients with a body mass index (BMI) greater than 24 kg m(-2) (OR: 1.42 (95%CI=1.04-1.93)).
