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Article

Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.

Journal of human genetics - 1 Jun 2021

Cerqueira Juliana X M, Saavalainen Päivi, Kurppa Kalle, Laurikka Pilvi, Huhtala Heini, Nykter Matti, L E Koskinen Lotta, Yohannes Dawit A, Kilpeläinen Elina, Shcherban Anastasia, Palotie Aarno, Kaukinen Katri, Lindfors Katri

Abstract excerpt

The phenotype of coeliac disease varies considerably for incompletely understood reasons. We investigated whether established coeliac disease susceptibility variants (SNPs) are individually or cumulatively associated with distinct phenotypes. We also tested whether a polygenic risk score (PRS) based on genome-wide associated (GWA) data could explain the phenotypic variation. The phenotypic association of 39...

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PMID: 33446885
DOI: 10.1038/s10038-020-00888-5
PMCID: PMC8144013

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