Yazan: admin Tarih: Şub 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 University, Meram Faculty of Medicine, Department of Medical 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, 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 genotype 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 genotype 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 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 homocysteine.
Yazan: admin Tarih: Nis 29th, 2009 | Kategori::
Kategorilenmemiş
Int J Immunogenet. 2009 Apr;36(2):103-6.
Department of Endocrinology and Metabolic Diseases Department, Ankara University School of Medicine, Ibni Sina Hospital, Ankara, Turkey. drsahinmustafa@yahoo.com
We previously shown that in a Turkish population, the A/G polymorphism in exon 1 of the cytotoxic T cell lymphocyte-associated molecule-4 (CTLA-4) gene is associated with Graves’ disease, and that the G allele may contribute to susceptibility for developing Graves’ disease. This polymorphism was identified in 197 patients with Hashimoto thyroiditis (HT) (126 women, 71 men; aged, 42.92 +/- 13.4 years) and 98 healthy individuals (56 women, 21 men; aged, 42.27 +/- 13.43 years) in Turkish population. Polymorphisms were analysed using a polymerase chain reaction-restriction fragment length polymorphism method. Frequency of the A/G genotypes was not significantly different in patients with HT when compared with controls in both sexes (P > 0.05). There was no statistical difference in age, sex, cigarette smoking, initial serum thyroid hormone levels, initial goiter size and thyroid autoantibodies among the patients with the three different genotypes (G/G, A/G and A/A). We concluded that A/G polymorphism of CTLA molecule is linked to occurrence of Graves’ disease bu not to HT in the Turkish population.
Yazan: admin Tarih: Ağu 4th, 2008 | Kategori::
Thyroid cancer(Tiroid kanseri)
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Department of Endocrinology and Metabolic Diseases, Ankara University School of Medicine, Ankara, Turkey. alptekingursoy@hotmail.com
Several single nucleotide polymorphisms (SNP) of the RET gene have been identified in medullary thyroid carcinoma (MTC) patients as well as in the general population. However, the relevance of SNP for MTC patients is still controversial, whether these allelic variants play other interacting, predisposing or modifying roles in clinical behavior of MTC. The aim of this work is to elaborate allelic frequencies of the RET proto-oncogene polymorphisms in Turkish sporadic MTC patients and to demonstrate if there is an association between SNP and the clinical disease features, specifically the age at onset of MTC and lymph node involvement at diagnosis. We analyzed the allelic frequencies of SNP of the exon 11, 13, 14 and 15 of the RET proto-oncogene in blood samples from 50 sporadic MTC patients, using the polymerase chain reaction methodology followed by DNA sequencing. The observed allelic frequencies were 24% for G691S polymorphism in exon 11, 29% for L769L polymorphism in exon 13, 5% for S836S polymorphism in exon 14, and 26% for S904S polymorphism in exon 15. These frequencies are similar to those reported in other countries. We did not observe any significant association of all four SNP with the age at onset of MTC. Our results indicate a possible association between the presence of lymph node involvement at the time of diagnosis (extent of disease) and L769L or S836S polymorphism. However, it is not possible to draw definitive conclusions that these two polymorphisms play a significant role in clinical behavior of MTC. Further studies are needed to evaluate the role of this polymorphism in the clinical behavior of MTC.
