Analysis of transforming growth factor beta 1 (TGF-beta1) gene polymorphisms in Turkish patients with scleroderma.

Yazan: admin Tarih: Tem 23rd, 2010 | Kategori:: Gene polymorphisms

Biochem Funct. 2010 Jun;28(4):274-7.

Büyük U, Ates O, Dalyan L, Müsellim B, Ongen G, Topal-Sarikaya A.

Department of Molecular Biology and Genetics, Istanbul , Turkey. atopal@istanbul.edu.tr

Abstract

Systemic sclerosis (SSc) is an autoimmune disease characterized by inflammation and fibrosis of the skin and visceral organs. Fibrosis associated with SSc is characterized by an increased synthesis of a wide range of extracellular matrix (ECM). TGF-beta is a pluripotent cytokine in a wide range of types. In particular it has been found to be a potent inducer of ECM protein synthesis and fibroblast migration. The TGF-beta1 gene is highly and two signal sequence polymorphisms at codon 10 and codon 25 are linked to disease outcomes. In this study, we analysed two sites of the TGF-beta1 gene, codon 10 and codon 25, in 43 Turkish SSc female patients with interstitial lung involvement and in 75 healty individuals by ARMS-PCR. In our study no significant difference was found in codon 10, codon 25 genotype frequencies between patient with SSc and the control group (p = 0.676, 0.375, respectively). Our findings suggest that codon 10 and 25 polymorphism cannot be related with SSc for Turkish population. 2010 John Wiley & Sons, Ltd.


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677C>T and 1298A>C Polymorphisms of Methylenetetrahydropholate Reductase Gene and Biochemical Parameters in Turkish Population with Spina Bifida Occulta.

Yazan: admin Tarih: Åžub 5th, 2010 | Kategori:: Methylenetetrahydropholate Reductase

Turk Neurosurg. 2010 Jan;20(1):9-15.

Eser B, Cosar M, Eser O, Erdogan MO, Aslan A, Yildiz H, Boyaci G, Buyukbas S, Solak M.

Selcuk , Meram of Medicine, Department of Genetics, Konya, Turkey.

AIM: This study aimed to investigate the 677C > T and 1298A > C MTHFR gene polymorphisms and their metabolic effects on the levels of folate, B12 and in the serum of Turkish spina bifida occulta (SBO) patients and healthy individuals in disease. MATERIAL and METHODS: A case-control study was performed to detect 677C > T and 1298A > C MTHFR gene polymorphisms in 39 SBO patients and 34 healthy individuals. The folate, B12 and concentrations in the serum of SBO and healthy individuals were evaluated and compared with MTHFR gene polymorphisms. RESULTS: 677 CC/CT/TT MTHFR genotype differences between the SBO patients and controls were not significant (x(2)=3.325, P=0.068; x(2)=1.479, P=0.224; x(2)=0.275, P=0.600; respectively). 1298A > C MTHFR genotype differences between the SBO patients and controls were significant (x(2)=8.477, P=0.004). The frequencies of the Aand C alleles of the 1298A > C polymorphism did not differ in a statistically significant manner between the groups (x(2)=0.576, P=0.448). The biochemical parameters were not significantly different between SBO patients and healthy individuals (P > 0.05). CONCLUSION: The 677C > T and 1298A > C polymorphisms of the MTHFR gene cannot be regarded as major risk factors for SBO in the Turkish patients 677TT homozygosity may affect the metabolism of .


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

Yazan: admin Tarih: Oca 21st, 2010 | Kategori:: Gene polymorphisms, Interleukin, schizophrenia

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 . 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 region’s polymorphic variants in patients with schizophrenia in a population of the Elazig Region of East Anatolia, Turkey. 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 (RFLP). We analyzed allele, genotype, and haplotype distributions using a case-control association study. 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 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 compared to control subjects (P = 0.0001). These data suggest that the IL-10 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 & Genet, TR-23169 Elazig, Turkey
3. Hosp Psychiat, Elazig, Turkey
E-mail Addresses: esratug@hotmail.com


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