NDLI: Genetic polymorphisms of the T-cell coreceptors CD28 and CTLA-4 in Afro- and Euro-Brazilians.

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Genetic polymorphisms of the T-cell coreceptors CD28 and CTLA-4 in Afro- and Euro-Brazilians.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Pincerati, M. R. Dalla-Costa, R. Pavoni, D. P. Petzl-Erler, M. L.
Spatial Coverage	Europe Africa Brazil
Description	Country affiliation: Brazil Author Affiliation: Pincerati MR ( Department of Genetics, Federal University of Paraná, Curitiba, Brazil.)
Abstract	CD28 and cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) are two receptors that have complementary functions in control of T-cell activation. Polymorphisms of their genes, CD28 and CTLA4, might confer differential susceptibility to diseases resulting from unbalanced or inefficient immune responses. Thus far, little is known about the CD28 polymorphism in populations and even for CTLA4 just one or two single nucleotide polymorphisms (SNPs) are usually analysed. To assess the allelic and haplotypic diversity and linkage disequilibrium in the Brazilian population, two samples differing according to predominant ancestry - African or European - have been analysed for seven SNPs, CD28 -372(G>A), and int3 17(T>C); CTLA4 -1722(T>C), -1577(G>A) -318(C>T), 49(A>G), 6230(G>A) also named CT60, and three microsatellites, CD28 (CAA)n, CTLA4 (AT)n and D2S72 (CA)n. The two population strata show little differentiation, the only significant differences being the allele frequencies of the CTLA4 -1577(G>A) SNP and the CTLA4 (AT)n microsatellite (P = 0.018 and P = 0.007, respectively). Linkage disequilibrium is high, especially between the CTLA4 polymorphisms. However, low r(2) values indicate that none of the markers is a tag SNP in these populations. These results provide valuable information for optimal selection of markers for use in future association studies. We conclude that disease association studies and functional studies addressing the possible consequences of polymorphisms of the 2q33 genomic region should consider haplotypic data besides analysis of individual polymorphisms.
File Format	HTM / HTML
ISSN	17443121
Issue Number	4
Volume Number	37
e-ISSN	1744313X
Journal	International Journal of Immunogenetics
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-08-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Genetics Discipline Immunology African Continental Ancestry Group Genetics Antigens, Cd28 Antigens, Cd European Continental Ancestry Group Microsatellite Repeats Polymorphism, Single Nucleotide Africa Ethnology Alleles Brazil Ctla-4 Antigen Chromosomes, Human, Pair 2 Europe Gene Frequency Genotype Haplotypes Humans Linkage Disequilibrium Comparative Study Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Immunology Genetics (clinical)

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