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.

Int J Immunogenet. 2011 Mar 22. doi: 10.1111/j.1744-313X.2011.01006.x. [Epub ahead of print]

Ozçimen AA, Dilek K, Bingöl U, Sarıcaoğlu H, Sarandöl A, Taşkapılıoğlu O, Yurtkuran M, Yurtkuran MA, Oral HB.

Source

Department of Biology, Mersin University Faculty of Science and Art, Mersin, Turkiye Department of Nephrology & Rheumatology, Uludag University Faculty of Medicine, Bursa, Turkiye Department of Physical Medicine & Rehabilitation, Uludag University Faculty Of Medicine, Bursa, Turkiye Department of Dermatology, Uludag University Faculty Of Medicine, Bursa, Turkiye Department of Psychiatry, Uludag University Faculty of Medicine, Bursa, Turkiye Department of Neurology, Uludag University Faculty Of Medicine, Bursa, Turkiye Immunology Unit, Department of Medical Microbiology, Uludag University Faculty of Medicine, Bursa, Turkiye.

Abstract

Several cytokine genes may play crucial roles in host susceptibility to Behçet’s Disease (BD), since the cytokine production capacity varies among individuals and depends on the cytokine gene polymorphisms. The association of the IL-1 cluster gene polymorphisms with the development of BD was investigated in this study. DNA samples were obtained from a Turkish population of 97 patients with BD, and 77 healthy control subjects. All genotyping (IL-1α, IL-1β, IL-1R and IL-1Ra) experiments were performed using sequence specific primers PCR (PCR-SSP). When compared to the healthy controls, the frequencies of IL-1Ra IL-1α and IL-1R gene polymorphisms were not significantly different in BD patients. The frequency of IL-1β-511 TT genotype was higher in the BD group in comparison to the control group. Interestingly, we demonstrated that IL-1 β +3962 gene polymorphism seems to be associated with the presence of Erythema nodosum in BD patients. Our data suggest that polymorphisms in IL-1β gene may affect host susceptibility to BD. In order to confirm the biological significance of our results, further studies should be performed in a large-scale study and/or in different ethnic groups.

Mol Biol Rep. 2011 Mar 9. [Epub ahead of print]

Engin AB, Karahalil B, Engin A, Karakaya AE.

Source

Department of Toxicology, Faculty of Pharmacy, Gazi University, 06330, Hipodrom, Ankara, Turkey, abengin@gmail.com.

Abstract

Although the developmental stages of gastric carcinoma are still not clear, the constantly generated reactive oxygen and nitrogen species (ROS/RNS) may contribute to the process of carcinogenesis by interacting with DNA. 8-oxoguanine DNA glycosylase-1 (OGG1) is an enzyme involved in base excision repair of 8-oxoguanine that is one of the premutagenic lesions generated by ROS in DNA. The bulky adducts, are recognized and repaired by nucleotid excision repair (NER) enzymes, including xeroderma pigmentosum C and D (XPC, XPD). Eligible 106 gastric cancer patients and 116 cancer-free individuals constituted the study and control groups, respectively. Association between OGG1 Ser326Cys, XPC Lys939Gln, XPD Lys751Gln polymorphisms and the susceptibility tho cancer and the oxidative stress status were evaluated. DNA was extracted from peripheral blood cells and genotypes were determined by using PCR-RFLP. Serum nitric oxide, albumin concentrations, total antioxidant status and Helicobacter pylori IgG were determined. Serum albumin and nitric oxide of cancer patients were lower than that of the controls (P < 0.05). None of the evaluated polymorphisms or Helicobacter pylori IgG seropositivity associated with increased risk of gastric cancer, despite of the increased oxidative stress in cancer patients.

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.