Polymorphisms in Turkish population

Eur J Cardiovasc Prev Rehabil. 2011 Feb 22. [Epub ahead of print]

Agirbasli M, Guney A, Ozturhan H, Agirbasli D, Ulucan K, Sevinc D, Kirac D, Ryckman K, Williams S.

Source

Department of Cardiology, Faculty of Medicine, Marmara University, Istanbul, Turkey.

Abstract

Background: Association studies in the Turkish population have investigated the single locus effects of different gene polymorphisms on coronary artery disease (CAD). CAD is a complex polygenic disease that involves complex interactions among multiple genetic and environmental conditions. Design: We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reductase C677T, plasminogen activator inhibitor 4G/5G, endothelial nitric oxide synthase (eNOS) 3-27 base pair repeat, insertion, or deletion of a 287 bp Alu repeat sequence polymorhism of angiotensin I converting enzyme, and paraoxonase Gln192Arg PON1 polymorphisms) with the presence and extent of early onset CAD. Methods: DNA was isolated and amplified from 90 consecutive patients with angiographically proven early onset CAD (ages 41 ± 5 for men, 49 ± 7 for women) and also from 90 control subjects with no significant coronary obstruction angiographically (ages 42 ± 5 for men, 48 ± 6 for women). Multifactor dimensionality reduction (MDR) analysis was performed to identify a model of CAD based on both genetic and conventional risk factors. Results: MDR analysis detected a significant model with four genes (prediction success ∼ 61%, p = 0.03). When the total number of the conventional risk factors is analysed with the candidate polymorphisms, a different model is identified that includes three of the four genes from the above model and achieves a similar prediction of CAD as the gene only model. Conclusion: These data indicate that gene-gene and gene-environmental risk interactions form significant models in predicting early onset CAD.

West Indian Med J. 2010 Jun;59(3):235-40.

Uzer E, Dilmec F, Akkafa F, Boduroglu O, van Kuilenburg AB.

Source

Department of Internal Medicine, Faculty of Medicine, Harran University, Sanliurfa, Turkey.

Abstract

OBJECTIVE:

The aim of this study is to investigate whether specific polymorphisms in the CTLA-4 and CD28 gene are associated with Type 2 diabetes mellitus (T2DM).

METHODS:

Blood samples were collected from 241 individuals (72 patients with T2DM and 169 healthy individuals) and DNA was isolated. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the frequencies of CTLA-4 NM_005214.3:c.49A > G and c.-319C > T, and CD28 NM_006139.1:c.534+17T > C polymorphisms in T2DM patients in the Sanliurfa Population.

RESULTS:

The data suggested that body mass index (BMI), total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-c) and haemoglobin A1c (HbA1c) were significantly higher in T2DM patients than in the control individuals (p < 0.05). No significant differences were observed for the frequencies of c.49A > G, c.-319C > T genotype and allele of CTLA-4 gene and c.534+17T > C of the CD28 gene in T2DM patients compared to healthy individuals (p > 0.05).

CONCLUSION:

The CTLA-4 gene c.49A > G and c.-319C > T and CD28 gene c.534+ 17T > C polymorphisms did not represent an important risk factor for this disease in a group of the Turkish population.

Clin Biochem. 2011 Apr;44(5-6):372-6. Epub 2011 Jan 9.

Altuner D, Suzen SH, Ates I, Koc GV, Aral Y, Karakaya A.

Source

Ankara University, Faculty of Pharmacy, Department of Toxicology, 06100, Tandogan, Ankara, Turkey.

Abstract

OBJECTIVES:

We investigated whether the human serum paraoxonase (PON1) Q/R 192 and M/L 55 polymorphisms are associated with the complications of the type 2 diabetes (T2D).

DESIGN AND METHODS:

Study group was consisted of 50 healthy subjects and 100 type 2 diabetes mellitus (DM) patients. Following measuring of serum PON1 activity, isolation of DNA and genotyping analyses were performed.

RESULTS:

PON1 activity of the patients with complications was significantly reduced by 23.5% compared to the group of diabetic patients and by 26.3% than the controls. According to multivariate analysis, we observed a three times significant effect of Q/R 192 polymorphism on the susceptibility to the occurrence of complications.

CONCLUSIONS:

Protective effects of paraoxonase against peroxidation of LDL particles are important in T2D complications. Although both of the two polymorphisms are associated, 192 polymorphism seems to be stronger predictor of the risk of diabetic complications.

Curr Med Res Opin. 2011 May 12. [Epub ahead of print]

Canbay E, Cakmakoglu B, Zeybek U, Sozen S, Cacina C, Gulluoglu M, Balik E, Bulut T, Yamaner S, Bugra D.

Source

Basaksehir State Hospital, Department of General Surgery , Basaksehir, Istanbul , Turkey.

Abstract

Abstract Background: There is growing evidence describing DNA repair genes polymorphisms are related to increased cancer risk including colorectal cancer (CRC). The aim of this study was to investigate the associations between the APE1 Asp148Glu, hOGG1 Ser326Cys, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His polymorphisms and CRC risk in Turkish population. Patients and methods: Polymorphisms of APE1 Asp148Glu (rs3136820), hOGG1 Ser326Cys (rs1052133), XRCC1 Arg399Gln(rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and XPG Asp1104His (rs17655) were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods in blood samples of 79 CRC patients at their initial staging and 247 healthy controls. Of the CRC patients, 26 out of 40 were diagnosed with rectal cancer and received neoadjuvant chemoradiotherapy following diagnosis; 39 others were diagnosed as colon cancer. Results: Our preliminary results showed that frequencies of Glu allele of APE1 Asp148Glu and Cys allele of hOGG1 Ser326Cys were higher in CRC patients than in controls (p = 0.006, OR: 3.43; 95% CI: 1.76-6.70; p = 0.000, OR: 2.77; 95% CI: 1.40-5.48, respectively). Higher frequency of Met allele of XRCC3 Thr241Met was detected in patients treated with neoadjuvant chemoradiotherapy (p = 0.024, OR: 5.25; 95% CI: 1.23-23.39) and with proximal colon tumors (p = 0.04, OR: 2; 95% CI: 1.18-3.34). Increased frequency of Ser/Ser genotype of hOGG1 Ser326Cys was found to be associated both with higher grade (p = 0.001, OR: 6.4; 95% CI: 2.69-62.69) and liver metastasis (p = 0.005, OR: 7.5; 95% CI: 0.7-68.36). Conclusion: APE1 Asp148Glu and hOGG1 Ser326Cys polymorphisms might be associated with increasing risk of CRC in a Turkish population. Future studies with larger-sized samples, as well as detecting the association of DNA repair genes with other confounding factors will help elucidate the exact roles of DNA repair genes polymorphisms in development and progression of CRC.