Bikunin and alpha(1)-microglobulin/bikunin precursor (AMBP) gene mutational screening in patients with kidney stones: a case-control study.

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

Scand J Urol Nephrol. 2010 Jul 5.

Igci M, Arslan A, Igci YZ, Gogebakan B, Erturhan MS, Cengiz B, Oztuzcu S, Cakmak EA, Demiryurek AT.

Department of Medical Biology.

Abstract

Abstract Objective. Bikunin is an inhibitor of kidney stone formation synthesized in the liver together with alpha(1)-microglobulin from the alpha(1)-microglobulin/bikunin precursor (AMBP) gene. The aim of this study was to investigate the possible association between bikunin/AMBP gene polymorphisms and urinary stone formation. Material and methods. To analyse the DNA, blood samples were taken from 75 kidney stone formers who had a familial stone history, 35 sporadic stone formers and 101 healthy individuals. Four exons of bikunin gene and five parts of the promoter region of the AMBP gene were screened using single-strand conformation polymorphism and nucleotide sequence analysis. Results. The Init-2 region of the promoter of AMBP gene had polymorphisms at positions -218 and -189 nt giving three different genotypes having 1,3, 2,4 and 1,2,3,4 alleles with frequencies of 17.06%, 60.19% and 22.75%, respectively, in all groups. Therefore, the Init-2 region appears to be polymorphic. As a result, the 1,3 allele has -218G and -189T complying with the reference database sequence, the 2,4 allele has -218G and T-189C substitution and the allele 1,2,3,4 genotype has substitutions at positions G-218C and T-189C. Conclusions. There were no significant differences in allele distribution between patients and controls. These common alleles exist in the Turkish population independent of stone formation. These results are the first to demonstrate the existence of bikunin and AMBP promoter polymorphism. Although the Init-2 region of the AMBP gene is the binding site for various transcription factors, the results showed no association between these observed genotypes and stone-forming phenotypes.


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

Yazan: admin Tarih: Mar 8th, 2009 | Kategori:: Kategorilenmemiş
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.


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Cyp17 genetic polymorphism in prostate cancer and benign prostatic hyperplasia.

Yazan: admin Tarih: Ağu 10th, 2008 | Kategori:: Prostate cancer(Prostat Kanseri)

Res Commun Mol Pathol Pharmacol. 2003;113-114:307-14. Links

Tigli H, Yazici H, Dalay N.

Department of Basic Oncology, Istanbul University, Oncology Institute 34390 Capa, Istanbul, Turkey.

Steroid hormones, especially androgens, are believed to play a key role in the etiology of prostate cancer. Therefore, polymorphisms in genes involved in the androgen metabolism may affect the risk of prostate cancer. One such gene is CYP17, which encodes the cytochrome P450c17alpha enzyme that mediates both 17alpha-hydroxylase and 17,20-lyase in the steroid biosynthesis pathway. A polymorphism in the 5′-promoter region of the CYP17 gene has been associated with increased risk for prostate cancer. The T to C transition in the risk allele creates a new recognition site for the restriction enzyme MspA1. In this study we investigated the distribution of this polymorphism in the Turkish population and its association with prostate cancer and benign prostatic hyperplasia. Genotype frequencies in the patients with prostate cancer or prostatic hyperplasia and the control group were not significantly different. Our data provide no evidence for an association between prostate cancer risk and the CYP17 gene polymorphism.


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