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

Yazan: admin Tarih: Oca 25th, 2011 | Kategori:: C6982T, T-593A, osteopontin gene

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.


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

Yazan: admin Tarih: Kas 30th, 2010 | Kategori:: Kategorilenmemiş

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.


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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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Association between tumor necrosis factor-alpha gene promoter polymorphism at position -308 and acne in Turkish patients.

Yazan: admin Tarih: Ağu 31st, 2008 | Kategori:: Cancer (Kanser), Gene polymorphisms, Tumor Necrosis Factor, polymorphisms

Arch Dermatol Res. 2008 Aug;300(7):371-376. Epub 2008 Jul 10.

Baz K, Emin Erdal M, Yazıcı AC, Söylemez F, Güvenç U, Taşdelen B, Ikizoğlu G.

Department of Dermatology, School of Medicine, Mersin University, Mersin, 33079, Turkey, drkbaz@hotmail.com.

Acne is a multifactorial, chronic inflammatory disease of pilosebaceous unit in which cytokines have been implicated in the pathogenesis. Although it is thought to be an inherited disease, there are limited data supporting the relevant genetic elements. Tumor necrosis factor-alpha (TNF-alpha) is one of the proinflammatory cytokines involved in the acne pathogenesis. Several single-nucleotide polymorphisms (SNPs) have been identified in the human TNF-alpha gene promoter. The polymorphism at position -308, which involves substituting guanine (G) for adenine (A) (TNFA-308 G/A) has been linked to increased susceptibility to several chronic inflammatory diseases. The aim of this study was to determine the TNFA-308 G/A polymorphism in acne and to examine whether there is a relationship between this polymorphism and disease susceptibility. Exactly, 113 patients with acne and 114 healthy control subjects were included in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used for analysis of the TNFA-308 G/A polymorphism. We found that the frequency of the TNFA-308 GA genotype was statistically significantly increased in patients compared with healthy controls (P < 0.001). There was no association between TNFA genotypes and severity of acne (P > 0.05). There was also no significant difference between male and female patients. Our results suggest that TNFA-308 G/A polymorphism may contribute to a predisposition to acne in Turkish population.


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