E-cadherin gene 3′-UTR C/T polymorphism in Turkish patients with nephrolithiasis.

Yazan: admin Tarih: Oca 25th, 2011 | Kategori:: E-cadherin, nephrolithiasis

Mol Biol Rep. 2010 Dec 14.

Yilmaz A, Menevse S, Onaran M, Sen I, Ergun MA, Camtosun A, Kupeli B, Bozkirli I.

Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara, 06500, Turkey.

Abstract

Nephrolithiasis is a complex disease and many gene polymorphisms have been associated with stone formation. In this study we aimed to investigate another possible relationship between E-cadherin gene (CHD1) 3′-UTR C/T polymorphism and calcium oxalate nephrolithiasis in the Turkish population. Study population was composed of 143 patients with nephrolithiasis and 158 control subjects. CHD1 3′-UTR C/T polymorphism was analysed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) technique. Genotype distribution of the investigated polymorphism was not deviated from Hardy-Weinberg equilibrium (HWE) in patients and control subjects (P > 0.05). C allele frequency was 85.7 and 85.1% in patients and controls, respectively (P = 0.836). Genotype distributions of the CHD1 3′-UTR C/T polymorphism among patients were also not significantly different from those among control subjects (P = 0.636). Our results showed that there is no association between the CHD1 gene 3′-UTR C/T polymorphism and nephrolithiasis in our population.


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Association between mannose-binding lectin levels and gene polymorphisms in chronic periodontitis and response to treatment.

Yazan: admin Tarih: Şub 25th, 2010 | Kategori:: Chronic periodontitis

Arch Oral Biol. 2010 Feb 2.

Ozçaka O, Bıçakcı N, Nalbantsoy A, Köse T, Berdeli A.

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

BACKGROUND: The aims of the present study were: (1) to investigate mannose-binding lectin (MBL) gene exon-1 polymorphisms in Turkish subjects with chronic periodontitis (CP), (2) to assess the association between these polymorphisms and plasma MBL levels, (3) to determine the effects of MBL genotypes on the outcomes of non-surgical periodontal therapy. METHODS: A total of 172 subjects were included in the present study. Genomic DNA was obtained from the peripheral blood of 83 CP patients and 89 periodontally healthy subjects. The MBL levels were measured by enzyme-linked immunosorbent assay (ELISA). The MBL gene exon-1 polymorphisms were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: Subjects homozygous for the frequent allele A had higher MBL plasma levels compared with rare allele B carriers. This difference in MBL plasma levels was statistically significant both in CP patients and healthy subjects. The distribution of MBL gene codon 54 genotypes and allele frequencies did not differ significantly between study groups. All study subjects were the MBL gene codon 52 and 57 frequent allele A carriers. Codon 54 B allele carriers had similar clinical periodontal parameters compared with AA genotypes after non-surgical periodontal therapy. CONCLUSIONS: The present study failed to find any significant association between the MBL gene codon 54 polymorphisms and severe CP in a Turkish population. MBL gene rare allele carriers had lower MBL plasma levels in both study groups. It seems that MBL gene codon 54 B allele carriage may not influence the outcome of periodontal therapy. Copyright © 2010. Published by Elsevier Ltd.


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

Yazan: admin Tarih: Şub 3rd, 2010 | Kategori:: Paraoxanase gene

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.


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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 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


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