PMID- 30823533
OWN - NLM
STAT- MEDLINE
DCOM- 20190529
LR  - 20200225
IS  - 2072-6643 (Electronic)
IS  - 2072-6643 (Linking)
VI  - 11
IP  - 2
DP  - 2019 Feb 25
TI  - The Phenotype of Celiac Disease Has Low Concordance between Siblings, Despite a 
      Similar Distribution of HLA Haplotypes.
LID - 10.3390/nu11020479 [doi]
LID - 479
AB  - The factors determining the presentation of celiac disease are unclear. We 
      investigated the phenotypic concordance and the distribution of human leukocyte 
      antigen (HLA) risk haplotypes in affected siblings. One hundred sibling pairs 
      were included. Clinical and histological parameters and HLA haplotypes were 
      compared between the first diagnosed indexes and their siblings. The phenotype 
      was categorized into gastrointestinal, extra-intestinal, malabsorption/anemia, 
      and asymptomatic. The phenotype was fully concordant in 21 pairs. The most common 
      concordant phenotype was gastrointestinal (14 pairs). Indexes had more 
      anemia/malabsorption and extra-intestinal symptoms than siblings (45% vs. 20%, p 
      < 0.001 and 33% vs. 12%, p < 0.001, respectively). Twenty siblings and none of 
      the indexes were asymptomatic. The indexes were more often women (81% vs. 63%, p 
      = 0.008). They were also more often seronegative (11% vs. 0%, p = 0.03) and 
      younger (37 vs. 43 year, p < 0.001), and had more severe histopathology 
      (total/subtotal atrophy 79% vs. 58%, p = 0.047) at diagnosis. The indexes and 
      siblings were comparable in other disease features. Pairs with discordant 
      presentation had similar HLA haplotypes more often than the concordant pairs. The 
      phenotype was observed to vary markedly between siblings, with the indexes 
      generally having a more severe presentation. HLA did not explain the differences, 
      suggesting that non-HLA genes and environmental factors play significant roles.
FAU - Kauma, Saana
AU  - Kauma S
AD  - Celiac Disease Research Centre, Faculty of Medicine and Life Sciences, Tampere 
      University, 33520 Tampere, Finland. saana.kauma@tuni.fi.
FAU - Kaukinen, Katri
AU  - Kaukinen K
AD  - Celiac Disease Research Centre, Faculty of Medicine and Life Sciences, Tampere 
      University, 33520 Tampere, Finland. katri.kaukinen@tuni.fi.
AD  - Department of Internal Medicine, Tampere University Hospital, 33521 Tampere, 
      Finland. katri.kaukinen@tuni.fi.
FAU - Huhtala, Heini
AU  - Huhtala H
AUID- ORCID: 0000-0003-1372-430X
AD  - Faculty of Social Sciences, Tampere University, 33520 Tampere, Finland. 
      heini.huhtala@tuni.fi.
FAU - Kivela, Laura
AU  - Kivela L
AD  - Tampere Centre for Child Health Research, Tampere University and Tampere 
      University Hospital, 33521 Tampere, Finland. laura.kivela@fimnet.fi.
FAU - Pekki, Henna
AU  - Pekki H
AD  - Celiac Disease Research Centre, Faculty of Medicine and Life Sciences, Tampere 
      University, 33520 Tampere, Finland. henna.pekki@tuni.fi.
FAU - Salmi, Teea
AU  - Salmi T
AD  - Celiac Disease Research Centre, Faculty of Medicine and Life Sciences, Tampere 
      University, 33520 Tampere, Finland. teea.salmi@tuni.fi.
AD  - Department of Dermatology, Tampere University Hospital, 33521 Tampere, Finland. 
      teea.salmi@tuni.fi.
FAU - Saavalainen, Paivi
AU  - Saavalainen P
AD  - Research Program Unit, Immunobiology, and Department of Medical and Clinical 
      Genetics, University of Helsinki, 00014 Helsinki, Finland. 
      paivi.saavalainen@helsinki.fi.
FAU - Lindfors, Katri
AU  - Lindfors K
AD  - Celiac Disease Research Centre, Faculty of Medicine and Life Sciences, Tampere 
      University, 33520 Tampere, Finland. katri.lindfors@tuni.fi.
FAU - Kurppa, Kalle
AU  - Kurppa K
AD  - Tampere Centre for Child Health Research, Tampere University and Tampere 
      University Hospital, 33521 Tampere, Finland. kalle.kurppa@tuni.fi.
LA  - eng
PT  - Journal Article
DEP - 20190225
PL  - Switzerland
TA  - Nutrients
JT  - Nutrients
JID - 101521595
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Celiac Disease/*diagnosis/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - HLA Antigens/*genetics
MH  - *Haplotypes
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Siblings
MH  - Young Adult
PMC - PMC6412523
OTO - NOTNLM
OT  - celiac disease
OT  - environmental factors
OT  - genotype
OT  - gluten-free diet
OT  - phenotype
OT  - sibling
COIS- The authors declare no conflict of interest.
EDAT- 2019/03/03 06:00
MHDA- 2019/05/30 06:00
PMCR- 2019/02/01
CRDT- 2019/03/03 06:00
PHST- 2019/01/28 00:00 [received]
PHST- 2019/02/20 00:00 [revised]
PHST- 2019/02/22 00:00 [accepted]
PHST- 2019/03/03 06:00 [entrez]
PHST- 2019/03/03 06:00 [pubmed]
PHST- 2019/05/30 06:00 [medline]
PHST- 2019/02/01 00:00 [pmc-release]
AID - nu11020479 [pii]
AID - nutrients-11-00479 [pii]
AID - 10.3390/nu11020479 [doi]
PST - epublish
SO  - Nutrients. 2019 Feb 25;11(2):479. doi: 10.3390/nu11020479.