Polymorphisms in Turkish population » Genotypes

PON1 55 and 192 Gene Polymorphisms in Type 2 Diabetes Mellitus Patients in a Turkish Population.

admin — Mon, 29 Nov 2010 23:47:46 +0000

Biochem Genet. 2010 Sep 7.

Ergun MA, Yurtcu E, Demirci H, Ilhan MN, Barkar V, Yetkin I, Menevse A.

Department of Medical Genetics, Gazi University Faculty of Medicine, Besevler, 06500, Ankara, Turkey, ergun@tr.net.

Abstract

Diabetes mellitus is a multifactorial metabolic disease, caused by the complete or relative absence of insulin hormone, which results in the deterioration of carbohydrate, protein, and lipid metabolism. The PON1 55 and 192 polymorphisms have been reported to be associated with type 2 diabetes and its complications. In this study, the involvement of the PON1 55 and 192 polymorphisms and paraoxonase enzyme activity in diabetic complications was assessed. The MM and QQ genotypes were the most frequent in complications of type 2 diabetes in both of the polymorphisms. PON enzyme activity was lower in the type 2 diabetes group with respect to the control group. Regarding both genotypes and enzyme activity, correlations were found between the PON1 55 and 192 genotypes and diabetic complications. This study thus helps to outline a genotype-phenotype relation for the PON1 gene in a Turkish population.

Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

admin — Mon, 29 Nov 2010 23:37:16 +0000

Thromb Hemost. 2010 Nov 15. Clin Appl

Kupeli E, Verdi H, Simsek A, Atac FB, Eyuboglu FO.

Abstract

Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. In all, 80 patients with VTE and 104 controls were included. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients (P = .04) with allele frequency of 6.3% (P = .01). Heterozygous PT G20210A mutation was also significantly higher among patients (P = .001) with allele frequency of 6.9% (P = .003). MTHFR 677TT genotype was significantly higher in patients (P = .009) with allele frequency of 23.8% (P = .005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies (P > .05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population.

Polymorphisms of CYP1A1, GSTM1, GSTT1, and prostate cancer risk in Turkish population.

admin — Fri, 23 Jul 2010 14:07:49 +0000

Cancer Invest. 2006 Feb;24(1):41-5.

Silig Y, Pinarbasi H, Günes S, Ayan S, Bagci H, Cetinkaya O.

Cumhuriyet University, Science and Art Faculty, Department of Biochemistry, Sivas, Turkey. ysilig@cumhuriyet.edu.tr

Abstract

Prostate cancer is the most common cancer among men in many countries. Although the etiology of prostate cancer largely is unknown, both genetic and environmental factors may be involved. Advanced age, androgen metabolism, and heredity-race have been reported to be possible risk factors. On the other hand, several studies indicate that genetic polymorphisms in biotransformation enzymes play a role in prostate cancer development. In this study, association of the prostate cancer risk with genotype frequencies of the Phase I (CYP1A1) and Phase II (GSTM1 and GSTT1) biotransformation enzymes was investigated in 321 Turkish individuals (152 prostate cancer patients and 169 age-matched male controls). The presence or absences of the GSTM1 and GSTT1 genes were determined by a PCR-based method. Genotypes of CYP1A1 were determined by MspI-RFLP. The prevalence of GSTM1 null genotype in the cases was 64 percent, compared to 31 percent in the control group, indicating a strong association (OR = 4.08, 95%CI = 2.50-6.69). No association was observed between either GSTT1 null genotype or CYP1A1 polymorphism and prostate cancer incidence. No statistically significant association was observed between smoking status of the patients and any of the polymorphisms studied. In conclusion, results of this study indicate that only the GSTM1 null genotype may play an important role as a risk factor for prostate cancer development in Turkish population.

The relationship between paraoxanase gene Leu-Met (55) and Gln-Arg (192) polymorphisms and coronary artery disease.]

admin — Wed, 03 Feb 2010 14:47:57 +0000

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.

Analysis of paraoxonase 1 (PON1) genetic polymorphisms and activities as risk factors for ischemic stroke in Turkish population

admin — Wed, 20 Jan 2010 23:49:50 +0000

Author(s): Demirdogen BC (Demirdogen, Birsen Can)1, Demirkaya S (Demirkaya, Seref)2, Turkanoglu A (Turkanoglu, Aysun)1, Bek S (Bek, Semai)2, Arinc E (Arinc, Emel)1, Adali O (Adali, Orhan)1
Source: CELL BIOCHEMISTRY AND FUNCTION Volume: 27 Issue: 8 Pages: 558-567 Published: DEC 2009

Abstract: Background Paraoxonase 1 (PON1) is protective against the development of atherosclerosis. a risk factor for ischemic stroke. PON1 gene has one promoter region (-107T/C) and two coding region (192Q/R and 55L/M) polymorphisms that affect the levels and catalytic efficiency of the enzyme. respectively. In this study. we aimed to determine the importance of -107T/C. 192Q/R and 55L/M polymorphisms of PON1 gene and three PON1 activity (diazoxonase, paraoxonase, arylesterase) as risk factors for ischemic stroke
Methods Stud population was comprised of 172 unrelated adult Caucasian patients with acute hemispheric ischemic stroke and 105 symptom-free controls. Genotypes were attained by PCR followed by restriction enzyme digestion and phenotypes were determined by spectrophotometric assays.

Results This is the first study analyzing diazoxonase activity as a risk factor for ischemic stroke Nevertheless, diazoxonase, paraoxonase and arylesterase activities were almost the manic in stroke patients and controls The 107TT genotype was associated with a 1 97 times increased risk for stroke in elderly (age > 59). Individuals with this genotype were found to have the lowest PON1 enzyme activities among the -107T/C genotypes Triple combined haplotype QRLMTC was found to be 6.94- and 10.4-times protective against ischemic stroke in the overall and the elderly Population. respectively. 55LL genotype was associated with 1 78-fold increase in the risk of ischemic stroke

Document Type: Article
Language: English
Author Keywords: genotype; paraoxonase; PON1; polymorphism; stroke
KeyWords Plus: HUMAN-SERUM PARAOXONASE; LOW-DENSITY-LIPOPROTEIN; INTIMA-MEDIA THICKNESS; LIPID-PEROXIDATION; LDL OXIDATION; ARYLESTERASE; PROMOTER; PROTEIN; ATHEROSCLEROSIS; CHOLESTEROL
Reprint Address: Demirdogen, BC (reprint author), Refik Saydam Natl Publ Hlth Agcy, Directorate Food Safety & Nutr Res, Ankara, Turkey
Addresses:
1. Middle E Tech Univ, Dept Biochem, Inst Nat & Appl Sci, TR-06531 Ankara, Turkey
2. Gulhane Mil Med Acad, Dept Neurol, Ankara, Turkey

Interleukin-10 gene promoter polymorphism in patients with schizophrenia in a region of East Turkey

admin — Wed, 20 Jan 2010 23:47:03 +0000

Author(s): Ozbey U (Ozbey, Ulku)2, Tug E (Tug, Esra)1, Namli M (Namli, Mustafa)3
Source: WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY Volume: 10 Issue: 5 Pages: 461-468 Published: 2009

Abstract: Schizophrenia is one of the most severe psychiatric disorders, with a worldwide incidence of 1%. Immunological abnormalities have been found to be associated with schizophrenia for decades. Cytokines are key proteins involved in the immune system activation. Interleukin-10 (IL-10), an important immunoregulatory cytokine, is located on chromosome 1q31 32, a region previously reported to be linked to schizophrenia in genetic studies. In the present study it was aimed to examine the IL-10 gene promoter region’s polymorphic variants in patients with schizophrenia in a population of the Elazig Region of East Anatolia, Turkey. Polymorphisms at position -1082, -819 and -592 in the IL-10 promoter region were determined in 171 Turkish patients who were diagnosed with schizophrenia, based on the DSM-IV, and 168 healthy controls, by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). We analyzed allele, genotype, and haplotype distributions using a case-control association study. Genotyping was performed by RFLP. Statistically significant differences were observed in both allelic and genotypic frequencies of the -592A/C polymorphism (Allele, P = 0.034, OR = 1.26, 95% CI 1.02 – 1.56; Genotype, P = 0.048), while the other two polymorphisms in distribution of the alleles and genotypes in patients with schizophrenia were not significantly different from those of controls (P > 0.05). Our results show a significant increase of GTA homozygotes (the high IL-10-producing haplotype) in schizophrenic patients compared to control subjects (P = 0.0001). These data suggest that the IL-10 gene promoter polymorphism may be one of the susceptibility factors to develop schizophrenia in the Turkish population, and apparently in all humans.
Document Type: Article
Language: English
Author Keywords: Biological psychiatry; cytokines; genetics; polymorphism; schizophrenia
KeyWords Plus: ASSOCIATION; HAPLOTYPES; POPULATION; LINKAGE
Reprint Address: Tug, E (reprint author), Abant Izzet Baysal Univ, Izzet Baysal Med Sch, Dept Med Genet, TR-14280 Bolu, Turkey
Addresses:
1. Abant Izzet Baysal Univ, Izzet Baysal Med Sch, Dept Med Genet, TR-14280 Bolu, Turkey
2. Firat Univ, Fac Med, Dept Med Biol & Genet, TR-23169 Elazig, Turkey
3. Hosp Psychiat, Elazig, Turkey
E-mail Addresses: esratug@hotmail.com

Elucidating genetic relationships, diversity and population structure among the Turkish female figs

admin — Wed, 20 Jan 2010 23:44:02 +0000

Ikten H (Ikten, Hatice)2, Mutlu N (Mutlu, Nedim)3, Gulsen O (Gulsen, Osman)1, Kocatas H (Kocatas, Hilmi)4, Aksoy U (Aksoy, Uygun)5

Source: GENETICA Volume: 138 Issue: 2 Pages: 169-177 Published: FEB 2010

Abstract: A collection of 96 female Turkish fig (Ficus carica L.) accessions was studied to elucidate genetic structure and estimate diversity and genetic similarity distribution among the female figs present in Turkish genetic resources, using 157 molecular genome markers including 129 sequence-related amplified polymorphisms, 21 random amplified polymorphic DNAs, and 7 simple-sequence repeats. The plant samples mainly included Turkish fig collections selected throughout the country over the course of a half-century. Neighbor-joining analysis revealed continuous dissimilarity range, and it was difficult to classify figs into distinct groups. The principle component analysis produced similar results. The analysis of molecular variance indicated that 95 and 93% of genetic variation were explained by within geographic origins and similar fruit rind color, respectively. Sub-structuring Bayesian analysis assigned the 96 female figs into four sub-populations, and indicated that they were highly related. The corrected allelic pairwise distances among the six geographic origins were less than 5%. This study suggests that geography- and color-based groups were not genetically distinct among the Turkish figs.
Document Type: Article
Language: English
Author Keywords: Ficus carica; SRAP; Neighbor-joining; PCA; AMOVA; Population structure
KeyWords Plus: FICUS-CARICA L.; GERMPLASM COLLECTION; COMMON FIG; MARKERS; RAPD; RELATEDNESS; GENOTYPES; RFLP; AFLP
Reprint Address: Gulsen, O (reprint author), Erciyes Univ, Dept Hort, Fac Agr, TR-38039 Kayseri, Turkey
Addresses:
1. Erciyes Univ, Dept Hort, Fac Agr, TR-38039 Kayseri, Turkey
2. Minist Agr & Rural Affairs, W Mediterranean Res Inst, TR-07100 Antalya, Turkey
3. Univ Nebraska, George W Beadle Ctr, Dept Biochem, Lincoln, NE 68503 USA
4. Fig Res Inst, TR-09600 Erbeyli, Aydin Turkey
5. Aegean Univ, Fac Agr, Dept Hort, TR-35100 Izmir, Turkey
E-mail Addresses: o_gulsen@yahoo.com

Comparison of IL10 and IL2 genotypes of Turkish population with other populations.

admin — Sat, 11 Apr 2009 20:30:45 +0000

Int J Immunogenet. 2009 Apr;36(2):97-101.

Comparison of IL10 and IL2 genotypes of Turkish population with other populations.

Yazici AC, Atac FB, Verdi H, Ozbek N.

Department of Biostatistics, Başkent University, Ankara, Turkey.

The human genome has been shaped by evolutionary and historical forces. Therefore, genetic polymorphisms are useful tools not only to understand the susceptibility to disease in modern populations, but the history of ancestral populations as well. For this purpose, data on genetic polymorphisms such as human leucocyte antigen, mitochondrial DNA sequence variability and the frequencies of TAP1 and TAP2 gene variants in Turkey have been reported previously. Here we have used interleukin (IL)-10 (-592C/A, -819T/C, -1082G/A) and IL-2 (-330T/G) as genetic markers to study the relationship between Turkish population and other populations.

Cytotoxic T lymphocyte-associated molecule-4 polymorphism in Turkish patients with Hashimoto thyroiditis.

admin — Sat, 11 Apr 2009 20:28:10 +0000

Int J Immunogenet. 2009 Apr;36(2):103-6.

Sahin M, Gursoy A, Erdogan MF.

Department of Endocrinology and Metabolic Diseases Department, Ankara University School of Medicine, Ibni Sina Hospital, Ankara, Turkey. drsahinmustafa@yahoo.com

We previously shown that in a Turkish population, the A/G polymorphism in exon 1 of the cytotoxic T cell lymphocyte-associated molecule-4 (CTLA-4) gene is associated with Graves’ disease, and that the G allele may contribute to susceptibility for developing Graves’ disease. This polymorphism was identified in 197 patients with Hashimoto thyroiditis (HT) (126 women, 71 men; aged, 42.92 +/- 13.4 years) and 98 healthy individuals (56 women, 21 men; aged, 42.27 +/- 13.43 years) in Turkish population. Polymorphisms were analysed using a polymerase chain reaction-restriction fragment length polymorphism method. Frequency of the A/G genotypes was not significantly different in patients with HT when compared with controls in both sexes (P > 0.05). There was no statistical difference in age, sex, cigarette smoking, initial serum thyroid hormone levels, initial goiter size and thyroid autoantibodies among the patients with the three different genotypes (G/G, A/G and A/A). We concluded that A/G polymorphism of CTLA molecule is linked to occurrence of Graves’ disease bu not to HT in the Turkish population.

Effect of MMP-1 promoter polymorphisms on GCF MMP-1 levels and outcome of periodontal therapy in patients with severe chronic periodontitis.

admin — Sun, 31 Aug 2008 18:03:38 +0000

J Clin Periodontol. 2008 Aug 14.

Pirhan D, Atilla G, Emingil G, Sorsa T, Tervahartiala T, Berdeli A.

Department of Periodontology, School of Dentistry, Ege University, Izmir, Turkey.

Aims: The aims of this study were to investigate (1) the matrix metalloproteinase-1 (MMP-1) promoter polymorphisms in severe chronic periodontitis (CP), (2) the relationship of periodontal therapy outcome with these genotypes, and (3) the gingival crevicular fluid (GCF) MMP-1 levels-MMP-1 genotype correlation. Material and Methods: Genomic DNA was obtained from the peripheral blood of 102 patients with severe CP and 98 periodontally healthy subjects. MMP-1 -519A/G and -1607 1G/2G polymorphisms were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Fifty-eight CP patients received non-surgical periodontal therapy and were followed for 6 months. Clinical periodontal parameters and GCF samples were collected at baseline and at 6 months. GCF MMP-1 levels were analysed by enzyme-linked immunosorbent assay (ELISA). Results: The distribution of MMP-1 genotypes did not significantly differ between the study groups. On the other hand, the -1607 2G allele frequency of severe CP patients was higher than that of healthy subjects. MMP-1 -519G allele carriers had higher GCF MMP-1 levels and percentage of sites with 4-6 mm clinical attachment level (CAL) compared with AA genotypes after non-surgical periodontal therapy (p<0.05). Conclusions: These data suggest that the -1607 2G polymorphic allele of the MMP-1 gene could be associated with susceptibility to severe CP in the Turkish population. It seems that -519AG and GG genotypes could play a role in the outcome of periodontal therapy.