Lack of Association between the Thr431Asn and Arg83Lys Polymorphisms of the ROCK2 Gene and Diabetic Retinopathy.

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.


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Association between the T-593A and C6982T polymorphisms of the osteopontin gene and risk of developing nephrolithiasis.

Yazan: admin Tarih: Kas 30th, 2010 | Kategori:: Kategorilenmemiş

Arch Med Res. 2010 Aug;41(6):442-8.

Gögebakan B, Igci YZ, Arslan A, Igci M, Erturhan S, Oztuzcu S, Sen H, Demiryürek S, Arikoglu H, Cengiz B, Bayraktar R, Yurtseven C, Sarıca K, Demiryürek AT.

Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey. bgogebakan@gantep.edu.tr

Abstract

BACKGROUND AND AIMS: Increased synthesis of several urinary proteins including osteopontin (OPN) has been shown to be associated with stone formation within the urinary tract. The objective of this study was to analyze the genotype distributions and allele frequencies for OPN gene promoter T-593A and C6982T (in exon 7) polymorphisms among patients with kidney stones.

METHODS: In this case-control study, the study group consisted of 121 patients with radiologically confirmed nephrolithiasis. Genomic DNA from patients and control cases (n = 100) was analyzed by single-strand conformation polymorphism method and nucleotide sequence analysis.

RESULTS: Homozygous carriers of the T-593T genotype were more frequent, but carriers of the A-593A genotype were less frequent in patients than in controls. There was also an increase in -593T allele (88% in patients vs. 79% in controls) and decrease in -593A allele frequencies (21% in control vs. 12% in patients) in the nephrolithiasis groups (p = 0.013). The carriers of C6982C genotype were less frequent, but marked increases in T6982T genotype (25.6% in patients vs. 7% in controls, p = 0.001) and 6982T allele frequency (53.3% in patients vs. 37.5% in controls, p = 0.001) were noted in patients of Turkish ancestry.

CONCLUSIONS: These results are the first to demonstrate the existence of T-593A promoter polymorphism of the OPN gene and significant association with risk of developing nephrolithiasis. Our results showed marked associations between polymorphisms (C6982T and T-593A) of the OPN gene and the stone-forming phenotypes in the Turkish population.


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Association of Serotonin 2A Receptor and Lack of Association of CYP1A2 Gene Polymorphism with Tardive Dyskinesia in a Turkish Population

Yazan: admin Tarih: Nis 22nd, 2009 | Kategori:: Tardive Dyskinesia
To cite this paper:
Omer Boke, Sezgin Gunes, Nurten Kara, Servet Aker, Ahmet Rifat Sahin, Yildiz Basar, Hasan Bagci. DNA and Cell Biology. August 2007, 26(8): 527-531. doi:10.1089/dna.2007.0605.

Full Text: • PDF for printing (73.7 KB) • PDF w/ links (114.4 KB)

Omer Boke

Department of Psychiatry, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Sezgin Gunes

Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Nurten Kara

Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Servet Aker

Department of Public Health, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Ahmet Rifat Sahin

Department of Psychiatry, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Yildiz Basar

Psikotem Private Psychiatry Center, Samsun, Turkey.
Hasan Bagci

Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

The aim of this study was to investigate the possible association of serotonin 2A receptor gene (HTR2A) −1438 G/A polymorphism and CYP1A2 gene 163C/A polymorphism with tardive dyskinesia (TD) in a Turkish population. A total of 47 patients with persistent TD, 80 patients who were consistently without TD, and 100 healthy controls were included in this study. The polymorphic regions of −1438 G/A polymorphism of HTR2A receptor gene (rs6311) and 163C/A of CYP1A2 (rs762551) gene were amplified using polymerase chain reaction (PCR), followed by digestion with restriction enzymes MspI and Bsp1201. Genotype and allele frequencies were calculated by the χ2-test. Crude and adjusted odds ratios (ORs) were estimated, and 95% confidence intervals (CIs) were computed by multivariate logistic regression analysis. The genotype and allele frequencies of HTR2A and CYP1A2 gene were similar in schizophrenia with TD, schizophrenia without TD, and healthy controls. The logistic regression analysis showed that cumulative exposure to antipsychotic drugs for every year (p = 0.003; OR = 1.15; CI = 1.07–1.23), and AA genotype of HTR2A gene (p = 0.0258; OR = 4.34; CI = 1.19–15.81) are risk factors for TD. The same logistic regression model showed no association between CYP1A2 polymorphism and TD. The results of the present study seem to indicate that HTR2A gene polymorphism influences the tendency to express TD following prolonged antipsychotic drug exposure in Turkish schizophrenia patients.


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Detection of VDR gene ApaI and TaqI polymorphisms in patients with type 2 diabetes mellitus using PCR-RFLP method in a Turkish population.

Yazan: admin Tarih: Mar 8th, 2009 | Kategori:: Kategorilenmemiş
Dilmec F, Uzer E, Akkafa F, Kose E, van Kuilenburg AB.

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.


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