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CTLA-4 (CD152) gene polymorphism at position 49 in exon 1 in Graves' disease in a Polish population of the Lower Silesian region

100%

Frydecka I., Daroszewski J., Suwalska K., Zoledziowska M., Tutak A., Slowik M., Potoczek S., Dobosz T.

issue 5

369-374

Graves' disease (GD) is an autoimmune disease believed to be caused by a combination of environmental and genetic factors. The gene encoding cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is one of the candidate genes for conferring susceptibility to thyroid autoimmunity. The aim of the study was to investigate the association between the exon 1 CTLA-4 gene polymorphism A(49)G and susceptibility to GD and Graves' ophthalmopathy (GO) as well as its severity in a Polish population of the Lower Silesia region. We analyzed the A(49)G exon 1 CTLA-4 gene polymorphism in 99 unrelated Polish patients with GD, of whom 50 had clinically evident GO (NOSPECS class III and higher), and 154 matched healthy subjects from the Lower Silesia region. Genomic DNA was isolated from whole frozen blood using the NucleoSpinR Blood kit. A/G transition was genotyped by polymerase chain reaction followed by labeling with the SnaPshot kit of PE Applied Biosystems and detected using an ABI PRISM 310 capillary genetic analyzer. The distribution of CTLA-4 exon 1 A(49)G genotype, allele, and phenotypic frequencies did not differ between patients with GD and healthy subjects. There was a significantly lower frequency of the AA genotype in the group of patients with clinically evident GO than in patients without severe GO (22% vs. 43%; p=0.02, OR=2.6). Our results showed that the AA genotype in patients with GD is associated with a lower risk of GO severity.

Lack of association between Exon 1 CTLA-4 gene polymorphism A(49)G and multiple sclerosis in Polish population of the Lower Silesia Region

100%

Bocko D., Bilinska M., Dobosz T., Zoledziewska M., Suwalska K., Tutak A., Gruszka E., Frydecka I.

Archivum Immunologiae et Therapiae Experimentalis

2003

vol. 51

issue 3

201-205

Multiple sclerosis (MS) a chronic inflammatory demyelinating disease of the central nervous system (CNS) is believed to have a T-cell mediated autoimmune etiology. The cytotoxic T lymphocyte antigen 4 (CTLA-4) gene is a strong candidate for the involvement in autoimmune diseases because CTLA-4 plays an important role in downregulation of early and late stages of T cell activation and maintenance of peripheral T cell tolerance. To examine the genetic association of the CTLA-4 gene locus with MS, we analyzed exon 1 CTLA-4 gen polymorphism A(49)G in 102 unrelated Polish MS patients in Lower Silesia region and 101 age and sex matched healthy subjects. The distribution of CTLA-4 exon 1 A(49)G genotype, phenotype and allele frequencies did not differ between patients with MS and healthy subjects.

Distribution of HLA-C alleles determined by PCR-SSP in population of Low Silesia

88%

Prussak M., Manczak M., Pochron B., Nowak I., Kusnierczyk P.

Archivum Immunologiae et Therapiae Experimentalis

2003

vol. 51

issue 2

127-130

We typed 100 unrelated healthy Poles from Low Silesia region for HLA-C using low resolution PCR-SSP and compared observed allele frequencies with data published for other human populations. Poles appeared to be most similar to Germans and Englishmen, and were more distant from French, Catalans and Basques and dissimilar to non-Caucasoids from Equatorial Guinea and Japan. It would be interesting to HLA-C-type other Slavian and non-Slavian people from Middle and Eastern Europe for comparison.

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3 Archivum Immunologiae et Therapiae Experimentalis

1 2004

2 2003

2 Dobosz T.

2 Frydecka I.

2 Suwalska K.

2 Tutak A.

1 Bilinska M.

1 Bocko D.

1 Daroszewski J.

1 Gruszka E.

1 Kusnierczyk P.

1 Manczak M.

1 Nowak I.

1 Pochron B.

1 Potoczek S.

1 Prussak M.

1 Slowik M.

1 Zoledziewska M.

1 Zoledziowska M.

Search results

CTLA-4 (CD152) gene polymorphism at position 49 in exon 1 in Graves' disease in a Polish population of the Lower Silesian region

Lack of association between Exon 1 CTLA-4 gene polymorphism A(49)G and multiple sclerosis in Polish population of the Lower Silesia Region

Distribution of HLA-C alleles determined by PCR-SSP in population of Low Silesia