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Göteborgs universitets publikationer

Genetic analysis of the CD28/CTLA4/ICOS (CELIAC3) region in coeliac disease.

Författare och institution:
S. S. Amundsen (-); Åsa Torinsson Naluai (Institutionen för kvinnors och barns hälsa); Henry Ascher (Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik); J Ek (-); Audur Gudjonsdottir (Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik); Jan Wahlström (Institutionen för kvinnors och barns hälsa); B. A. Lie (-); L. M. Sollid (-)
Publicerad i:
Tissue antigens, 64 ( 5 ) s. 593-9
Artikel, refereegranskad vetenskaplig
Sammanfattning (abstract):
In order to extend our previous findings of genetic linkage to the CD28/CTLA4/ICOS region on chromosome 2q33 (CELIAC3) in coeliac disease (CD), we have investigated 22 genetic markers in 325 Norwegian/Swedish multiplex and simplex CD families. We found both linkage and association with several markers, primarily in the multiplex material. We observed strong linkage disequilibrium (LD) between SNPs (Single Nucleotide Polymorphisms) within an LD block delimited by MH30 and D2S72. A haplotype of this region marked by the alleles -1147*T: + 49*A:CT60*G:CT61*A was significantly associated with CD, suggesting that one or more polymorphisms of this haplotype, possibly -1147*T, are involved in CD susceptibility. The CT60 SNP, a polymorphism found to be most strongly associated with some other immune-mediated diseases, was not associated with CD, as this SNP was part of both associated and non-associated haplotypes. Moreover, our results suggest that CELIAC3 harbours several independent loci contributing to CD susceptibility.
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
Antigens, CD, Antigens, CD28, genetics, Antigens, Differentiation, genetics, Antigens, Differentiation, T-Lymphocyte, genetics, Celiac Disease, genetics, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, Sequence Analysis, DNA
Postens nummer:
Posten skapad:
2007-10-09 11:31
Posten ändrad:
2008-01-18 10:57

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