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Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis.


ABSTRACT: Imprinted genes, giving rise to parent-of-origin effects (POEs), have been hypothesised to affect type 1 diabetes (T1D) and rheumatoid arthritis (RA). However, maternal effects may also play a role. By using a mixed model that is able to simultaneously consider all kinds of POEs, the importance of POEs for the development of T1D and RA was investigated in a variance components analysis. The analysis was based on Swedish population-scale pedigree data. With P?=?0.18 (T1D) and P?=?0.26 (RA) imprinting variances were not significant. Explaining up to 19.00% (±?2.00%) and 15.00% (±?6.00%) of the phenotypic variance, the maternal environmental variance was significant for T1D (P?=?1.60?×?10-24) and for RA (P?=?0.02). For the first time, the existence of maternal genetic effects on RA was indicated, contributing up to 16.00% (±?3.00%) of the total variance. Environmental factors such as the social economic index, the number of offspring, birth year as well as their interactions with sex showed large effects.

SUBMITTER: Blunk I 

PROVIDER: S-EPMC7360775 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis.

Blunk Inga I   Thomsen Hauke H   Reinsch Norbert N   Mayer Manfred M   Försti Asta A   Sundquist Jan J   Sundquist Kristina K   Hemminki Kari K  

Scientific reports 20200714 1


Imprinted genes, giving rise to parent-of-origin effects (POEs), have been hypothesised to affect type 1 diabetes (T1D) and rheumatoid arthritis (RA). However, maternal effects may also play a role. By using a mixed model that is able to simultaneously consider all kinds of POEs, the importance of POEs for the development of T1D and RA was investigated in a variance components analysis. The analysis was based on Swedish population-scale pedigree data. With P = 0.18 (T1D) and P = 0.26 (RA) imprin  ...[more]

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