Polymorphisms in Turkish population » allele frequencies

The Role of G Protein β3 Subunit Polymorphisms C825T, C1429T, and G5177A in Turkish Subjects with Essential Hypertension.

admin — Thu, 19 May 2011 20:40:16 +0000

Clin Exp Hypertens. 2011;33(3):202-8. Epub 2011 Apr 8.

Cabadak H, Orun O, Nacar C, Dogan Y, Guneysel O, Fak AS, Kan B.

Source

Department of Biophysics, Marmara University School of Medicine, Istanbul, Turkey.

Abstract

Hypertension is a multifactorial disorder that constitutes a major risk factor for the cardiovascular system. Heterotrimeric G-proteins, which couple receptors for diverse extracellular enzymes or ion channels, are correlated with disease mechanisms. Several studies have demonstrated an association between G protein polymorphisms and essential hypertension in some populations, although contradictive results also exist. In this study, we have investigated the potential role of the C825T, C1429T, and G5177A polymorphisms of the β3 subunit of G-proteins in essential hypertension in a group of Turkish subjects. Genomic DNA from 106 normotensive individuals (117.4 ± 13.1, 75.2 ± 10.5; systolic blood pressure (SBP) and diastolic blood pressure (DBP) levels, respectively) and 101 hypertensive subjects (152.3 ± 18.0, 92.5 ± 11.6; SBP and DBP levels, respectively) were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing methods for these polymorphisms. Allele frequencies of the polymorphisms were consistent with Hardy Weinberg equilibrium, except for the C825T polymorphism (χ(2) = 7.8). The frequencies of the 825T and 1429T variants were higher in hypertensive subjects compared to those of controls. Differences between hypertensives and controls were not statistically significant, though difference was very close to significance for C825T (p = 0.056 and 0.099 for 825T and 1429T, respectively). T allele frequency in overall population showed significant association with hypertension for C825T (0.0134). The prevalence of the 5177A-variant was very low and all subjects carrying it were heterozygotes in both groups.

Lack of association between the Thr431Asn and Arg83Lys polymorphisms of the ROCK2 gene and diabetic retinopathy.

admin — Tue, 25 Jan 2011 10:02:52 +0000

Curr Eye Res. 2010 Dec;35(12):1128-34. Epub 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. demiryurek@gantep.edu.tr

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.

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

admin — Tue, 25 Jan 2011 10:00:49 +0000

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.

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

admin — Tue, 25 Jan 2011 09:57:32 +0000

Clin Appl Thromb Hemost. 2010 Nov 15.

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.

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

admin — Mon, 29 Nov 2010 23:42:07 +0000

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.

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

admin — Mon, 29 Nov 2010 23:39:07 +0000

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

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

admin — Wed, 22 Apr 2009 10:16:53 +0000

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.

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

admin — Sun, 08 Mar 2009 20:01:52 +0000

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.

Possible association of the 5-HTTLPR serotonin transporter promoter gene polymorphism with PE in a Turkish population.

admin — Sun, 08 Mar 2009 19:57:45 +0000

Ozbek E, Tasci AI, Tugcu V, Ilbey YO, Simsek A, Ozcan L, Polat EC, Koksal V.

1Department of Urology, Bezm-i Alem Valide Sultan Vakif Gureba Research and Education Hospital, Istanbul 34095, Tukey.

We evaluated the genotypes of the serotonin transporter gene (5-HTT) in patients with premature ejaculation (PE) to determine the role of genetic factors in the etiopathogenesis of PE and possibly to identify the patient subgroups. A total of 70 PE patients and 70 controls were included in this study. All men were heterosexual, had no other disorders and were either married or in a stable relationship. PE was defined as ejaculation that occurred within 1 min of vaginal intromission. Genomic DNA from patients and controls was analyzed using polymere chain reaction, and allelic variations of the promoter region of the serotonin transporter gene (5-HTTLPR) were determined. The 5-HTTLPR (serotonin transporter promoter gene) genotypes in PE patients vs. controls were distributed as follows: L/L 16% vs. 17%, L/S 30% vs. 53% and S/S 54% vs. 28%. We examined the haplotype analysis for three polymorphisms of the 5-HTTLPR gene: LL, LS and SS. The appropriateness of the allele frequencies in the 5-HTTLPR gene was analyzed by the Hardy-Weinberg equilibrium using the chi(2)-test. The short (S) allele of the 5-HTTLPR gene was significantly more frequent in PE patients than in controls (P < 0.05). We suggest that the 5-HTTLPR gene plays a role in the pathophysiology of all primary PE cases. Further studies are needed to evaluate the relationship between 5-HTTLPR gene polymorphism and patient subgroup (such as primary and secondary PE) responses to selective serotonin reuptake inhibitors as well as ethnic differences.Asian Journal of Andrology advance online publication, 2 March 2009; doi: 10.1038/aja.2008.3.

Interleukin-10 gene polymorphism in patients with papillary thyroid cancer in Turkish population.

admin — Tue, 03 Feb 2009 10:33:29 +0000

1: J Endocrinol Invest. 2008 Sep;31(9):750-4.

Interleukin-10 gene polymorphism in patients with papillary thyroid cancer in Turkish population.

Erdogan M, Karadeniz M, Ozbek M, Ozgen AG, Berdeli A.

Department of Endocrinology and Metabolism Disease, Ege University Medical School, Bornova, Izmir, Turkey. drmerdogan61@yahoo.com

OBJECTIVE: Interleukin-10 (IL-10) is a major anti-inflammatory cytokine that plays a crucial role in the regulation of the immune system. Chronic inflammation has been reported to be a risk factor for thyroid neoplasia. The propensity to mount an inflammatory response is modified by germ line variation in cytokine and other inflammation-related genes. We hypothesized that a proinflammatory genotype would be positively associated with thyroid cancer. We aimed to evaluate the relation between the genotypic and allelic frequencies of the IL-10(-1082 G/A), IL-10(-592 A/C), and IL-10(-819 C/T) polymorphisms, and their association with the risk of developing papillary thyroid cancer (PTC) in the Turkish population. RESEARCH DESIGN AND METHODS: Forty-two patients with PTC and 113 healthy controls were included in this study. The diagnosis of PTC was confirmed by histopathologic examination after surgery. The evaluation of genotype for IL-10 gene polymorphism was performed using PCR-restriction fragment length polymorphism method. RESULTS: Statistically significant difference IL-10(-1082 G/A) gene polymorphism was determined between 2 (PTC and control) groups. No difference was determined with respect to IL-10(-592 A/C) and IL-10(-819 C/T) gene polymorphisms, and IL-10(-1082 G/A), IL-10(-592 A/C), and IL-10(-819 C/T) allele frequencies of participating between the control group and the patients with PTC (p>0.05). CONCLUSIONS: The polymorphism of IL-10(-1082 G/A) gene was significantly associated with the occurrence of PTC. Such studies will contribute significantly to our understanding of the biological role of IL-10(-1082 G/A) gene polymorphism in PTC development. In conclusion, IL-10(-1082 G/A) gene polymorphism may affect the survival of papillary thyroid carcinoma.