TNF-alpha promoter polymorphisms in multiple sclerosis: no association with -308 and -238 alleles, but the -857 alleles in associated with the disease in Turkish patients.

Yazan: admin Tarih: Şub 25th, 2010 | Kategori:: Multiple sclerosis

Akcali A, Pehlivan S, Pehlivan M, Sever T, Akgul P, Neyal M.

Department of Neurology, Gaziantep University School of Medicine, Gaziantep, Turkey.

Summary Dysregulation in the expression of pro- and anti-inflammatory cytokines is one of the milestones in multiple sclerosis (MS) development and progression. Tumour necrosis factor (TNF-alpha), a proinflammatory cytokine is believed to play an important role in MS pathogenesis. The objective of this study is to investigate the association between TNF-alpha promoter region (TNF-alpha-238, -308 and -857) and susceptibility to MS and clinical course of the disease. Eighty-six relapsing remitting MS patients and 150 sex-, age- and ethnic-matched controls were enrolled in the study. Genotyping was performed by PCR-RFLP method. We observed a statistically significant increase in TNF-alpha 857 CC genotype in MS patients than controls (P < 0.001) while TNF-alpha 857 CT genotype showed a significant negative correlation with MS patients (P = 0.033). No differences in the distribution of the TNF-alpha-238 and -308 alleles were observed. None of the three polymorphisms (-238, -308 and -857) did not show relation with disease duration, Expanded Disability Status Scale or age of onset. On the other hand, significant difference of TNF -857 CC genotype was identified with the low disease index (P = 0.025). Although the study group is small, the results indicate that TNF-alpha 857 CC genotype may cause susceptibility to MS in the Turkish population.


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Melanocortin-4 receptor gene polymorphisms in obese patients.

Yazan: admin Tarih: Nis 29th, 2009 | Kategori:: Melanocortin-4 Receptor

Biochem Genet. 2009 Apr;47(3-4):295-300.

Yurtcu E, Yilmaz A, Ozkurt Z, Kolukisa E, Yilmaz M, Keles H, Ergun MA, Yetkin I, Menevse A.

Department of Medical Biology and Genetics, Gazi University Faculty of Medicine, Besevler, Ankara, Turkey. erkan_yurtcu@yahoo.com

Obesity is a complex disease caused by both genetics and environmental factors. Melanocortin-4 receptor (MC4R) (MIM 155541) gene polymorphisms were reported to be the cause of monogenic obesity in humans. We studied three polymorphisms (Val50Met, Val103Ile, and Ser58Cys) and a mutation (Asn274Ser) of the MC4R gene in 203 obese patients and in 110 healthy subjects in the Turkish population. A high incidence of Val103Ile and Val50Met polymorphisms as well as the Asn274Ser mutation was found in the obese patients, whereas no significant correlation was found regarding the Ser58Cys polymorphism. We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity.


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Melanocortin-4 Receptor Gene Polymorphisms in Obese Patients.

Yazan: admin Tarih: Mar 8th, 2009 | Kategori:: Kategorilenmemiş
Yurtcu E, Yilmaz A, Ozkurt Z, Kolukisa E, Yilmaz M, Keles H, Ergun MA, Yetkin I, Menevse A.

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

Obesity is a complex disease caused by both genetics and environmental factors. Melanocortin-4 receptor (MC4R) (MIM 155541) gene polymorphisms were reported to be the cause of monogenic obesity in humans. We studied three polymorphisms (Val50Met, Val103Ile, and Ser58Cys) and a mutation (Asn274Ser) of the MC4R gene in 203 obese patients and in 110 healthy subjects in the Turkish population. A high incidence of Val103Ile and Val50Met polymorphisms as well as the Asn274Ser mutation was found in the obese patients, whereas no significant correlation was found regarding the Ser58Cys polymorphism. We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity.


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