PMID- 17551518
OWN - NLM
STAT- MEDLINE
DCOM- 20071015
LR  - 20091119
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 15
IP  - 9
DP  - 2007 Sep
TI  - A comprehensive screen for SNP associations on chromosome region 5q31-33 in 
      Swedish/Norwegian celiac disease families.
PG  - 980-7
AB  - Celiac disease (CD) is a gluten-induced enteropathy, which results from the 
      interplay between environmental and genetic factors. There is a strong human 
      leukocyte antigen (HLA) association with the disease, and HLA-DQ alleles 
      represent a major genetic risk factor. In addition to HLA-DQ, non-HLA genes 
      appear to be crucial for CD development. Chromosomal region 5q31-33 has 
      demonstrated linkage with CD in several genome-wide studies, including in our 
      Swedish/Norwegian cohort. In a European meta-analysis 5q31-33 was the only region 
      that reached a genome-wide level of significance except for the HLA region. To 
      identify the genetic variant(s) responsible for this linkage signal, we performed 
      a comprehensive single nucleotide polymorphism (SNP) association screen in 97 
      Swedish/Norwegian multiplex families who demonstrate linkage to the region. We 
      selected tag SNPs from a 16 Mb region representing the 95% confidence interval of 
      the linkage peak. A total of 1,404 SNPs were used for the association analysis. 
      We identified several regions with SNPs demonstrating moderate single- or 
      multipoint associations. However, the isolated association signals appeared 
      insufficient to account for the linkage signal seen in our cohort. Collective 
      effects of multiple risk genes within the region, incomplete genetic coverage or 
      effects related to copy number variation are possible explanations for our 
      findings.
FAU - Amundsen, Silja Svanstrom
AU  - Amundsen SS
AD  - Institute of Immunology, University of Oslo, Rikshospitalet-Radiumhospitalet 
      Medical Centre, Oslo, Norway. s.s.amundsen@medisin.uio.no
FAU - Adamovic, Svetlana
AU  - Adamovic S
FAU - Hellqvist, Asa
AU  - Hellqvist A
FAU - Nilsson, Staffan
AU  - Nilsson S
FAU - Gudjonsdottir, Audur H
AU  - Gudjonsdottir AH
FAU - Ascher, Henry
AU  - Ascher H
FAU - Ek, Johan
AU  - Ek J
FAU - Larsson, Kristina
AU  - Larsson K
FAU - Wahlstrom, Jan
AU  - Wahlstrom J
FAU - Lie, Benedicte A
AU  - Lie BA
FAU - Sollid, Ludvig M
AU  - Sollid LM
FAU - Naluai, Asa Torinsson
AU  - Naluai AT
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070606
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Celiac Disease/*genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 5
MH  - Cohort Studies
MH  - Genetic Testing
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Norway
MH  - *Polymorphism, Single Nucleotide
MH  - Quality Control
MH  - Sweden
EDAT- 2007/06/07 09:00
MHDA- 2007/10/16 09:00
CRDT- 2007/06/07 09:00
PHST- 2007/06/07 09:00 [pubmed]
PHST- 2007/10/16 09:00 [medline]
PHST- 2007/06/07 09:00 [entrez]
AID - 5201870 [pii]
AID - 10.1038/sj.ejhg.5201870 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2007 Sep;15(9):980-7. doi: 10.1038/sj.ejhg.5201870. Epub 2007 
      Jun 6.