Hos Geldiniz

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 Faculty of Medicine, Department of Medical Genetics, Konya, .

AIM: This study aimed to investigate the 677C > T and 1298A > C MTHFR gene polymorphisms and their metabolic effects on the levels of folate, vitamin B12 and homocysteine 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, vitamin B12 and homocysteine concentrations in the serum of SBO and healthy individuals were evaluated and compared with MTHFR gene polymorphisms. RESULTS: 677 CC/CT/TT MTHFR frequency 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 frequency 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 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 homocysteine.


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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 of the Elazig Region of East Anatolia, . 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 chain reaction (PCR)- (RFLP). We analyzed allele, , 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 (Allele, P = 0.034, OR = 1.26, 95% CI 1.02 – 1.56; , 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 may be one of the susceptibility factors to develop schizophrenia in the , and apparently in all humans.
Document Type: Article
Language: English
Author Keywords: Biological psychiatry; cytokines; genetics; ; schizophrenia
KeyWords Plus: ASSOCIATION; HAPLOTYPES; ; LINKAGE
Reprint Address: Tug, E (reprint author), Abant Izzet Baysal Univ, Izzet Baysal Med Sch, Dept Med Genet, TR-14280 Bolu,
Addresses:
1. Abant Izzet Baysal Univ, Izzet Baysal Med Sch, Dept Med Genet, TR-14280 Bolu,
2. Firat Univ, Fac Med, Dept Med Biol & Genet, TR-23169 Elazig,
3. Hosp Psychiat, Elazig,
E-mail Addresses: esratug@hotmail.com


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Common MEFV mutations and polymorphisms in an elderly population: an association with E148Q polymorphism andrheumatoid factor levels.

Yazan: admin Tarih: AÄŸu 24th, 2009 | Kategori:: Cancer (Kanser)

Clin Exp Rheumatol. 2009 Mar-Apr;27(2):340-3. Links

Turanli ET, Beger T, Erdincler D, Curgunlu A, Karaman S, Karaca E, Dasdemir S, Bolayirli M, Yazici H.

Department of Molecular and Genetics, and 2Molecular and Biotechnology Research Center, Istanbul Technical , Istanbul, . turanlie@itu.edu.tr

OBJECTIVES: To analyse the most common MEFV (Mediterranean fever gene) mutations and polymorphisms in an elderly free of chronic inflammatory disease (n=164), and explore possible associations between hsCRP (high sensitive C-reactive protein) and RF (rheumatoid factor) levels with MEFV mutations and polymorphisms. METHODS: An elderly group free of chronic inflammatory disease was chosen among the outpatients of the division of geriatric medicine. Total genomic was isolated from blood, and PCR-RFLP analysis was performed using established protocols. Sera were analyzed for hsCRP and RF levels. RESULTS: The frequencies for 694V (1.8%), 694I (1.8%), 680I (0.6%), 726A (2.1%) and 148Q (5%) alleles were found to be similar to Turkish historic controls, with a carrier frequency of 1/4. Further analyses with rheumatoid factor (RF) levels and mutations revealed a significant association between the presence of the E148Q with increased RF levels (>15 mg/dl) (xi2= 7.358, p=0.007, OR=5.41 95% CI 1.41-20.64). CONCLUSIONS: Common MEFV mutations and polymorphisms were similarly represented among the elderly compared to historic controls. On the other hand, a significant association was found between the presence of E148Q and increased RF levels. This suggests that the previously noted increased RF levels in elderly populations may somehow be related to the now described association of RF with MEFV E148Q .


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