The IL12B gene does not confer susceptibility to coeliac disease.
Coeliac disease (CD) is a chronic inflammatory disorder where dietary gluten is not tolerated. In the lesion there are gluten reactive T cells predominantly secreting gamma-interferon. Both HLA and non-HLA genes contribute to CD susceptibility. Interleukin-12 (IL-12) regulates gamma-interferon production. The IL12B gene is located in a region (5q31.1-33.1) where there is evidence for linkage with CD. Allele 1 of an IL12B 3'UTR single-nucleotide polymorphism leads to increased expression of IL-12, and was recently implicated in susceptibility for type 1 diabetes (T1D). We found no evidence for association of allele 1 to CD by the transmission/disequilibrium test or case-control approach. No increased frequency was observed in patients belonging to families where the disease was linked to markers on chromosome 5q. Unlike T1D, allele 1 does not appear to confer susceptibility to CD.
Louka
A S
AS
Institute of Immunology, University of Oslo Rikshospitalet, Oslo, Norway. andrew.louka@biotek.uio.no
Torinsson Naluai
A
A
D'Alfonso
S
S
Ascher
H
H
Coto
I
I
Ek
J
J
Giordano
M
M
Gudjónsdóttir
A H
AH
Mellai
M
M
Momigliano-Richiardi
P
P
Percopo
S
S
Samuelsson
L
L
Wahlström
J
J
Greco
L
L
Sollid
L M
LM
D000483:Alleles; D002446:Celiac Disease / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D053762:Interleukin-12 Subunit p40; D007422:Intestines / Q000473:pathology; D007558:Italy; D011110:Polymorphism, Genetic; D012537:Scandinavian and Nordic Countries
D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; C500879:IL12B protein, human; D053762:Interleukin-12 Subunit p40; D018664:Interleukin-12