Universität zu Köln

Thomsen, Hauke ORCID: 0000-0001-5951-3116, da Silva Filho, Miguel Inacio, Fuchs, Michael, Ponader, Sabine, von Strandmann, Elke Pogge, Eisele, Lewin, Herms, Stefan ORCID: 0000-0002-2786-8200, Hoffmann, Per, Engert, Andreas, Hemminki, Kari and Forsti, Asta (2016). Evidence of Inbreeding in Hodgkin Lymphoma. PLoS One, 11 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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Abstract

Genome-wide association studies (GWASs) have identified several, mainly co-dominantly acting, single-nucleotide polymorphisms (SNPs) associated with Hodgkin lymphoma (HL). We searched for recessively acting disease loci by performing an analysis of runs of homozygosity (ROH) based on windows of homozygous SNP-blocks and by calculating genomic inbreeding coefficients on a SNP-wise basis. We used data from a previous GWAS with 906 cases and 1217 controls from a population with a long history of no matings between relatives. Ten recurrent ROHs were identified among 25 055 ROHs across all individuals but their association with HL was not genome-wide significant. All recurrent ROHs showed significant evidence for natural selection. As a novel finding genomic inbreeding among cases was significantly higher than among controls (P = 2.11*10(-14)) even after correcting for covariates. Higher inbreeding among the cases was mainly based on a group of individuals with a higher average length of ROHs per person. This result suggests a correlation of higher levels of inbreeding with higher cancer incidence and might reflect the existence of recessive alleles causing HL. Genomic inbreeding may result in a higher expression of deleterious recessive genes within a population.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Thomsen, Hauke UNSPECIFIED orcid.org/0000-0001-5951-3116 UNSPECIFIED da Silva Filho, Miguel Inacio UNSPECIFIED UNSPECIFIED UNSPECIFIED Fuchs, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Ponader, Sabine UNSPECIFIED UNSPECIFIED UNSPECIFIED von Strandmann, Elke Pogge UNSPECIFIED UNSPECIFIED UNSPECIFIED Eisele, Lewin UNSPECIFIED UNSPECIFIED UNSPECIFIED Herms, Stefan UNSPECIFIED orcid.org/0000-0002-2786-8200 UNSPECIFIED Hoffmann, Per UNSPECIFIED UNSPECIFIED UNSPECIFIED Engert, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Hemminki, Kari UNSPECIFIED UNSPECIFIED UNSPECIFIED Forsti, Asta UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-278263
DOI:	10.1371/journal.pone.0154259
Journal or Publication Title:	PLoS One
Volume:	11
Number:	4
Date:	2016
Publisher:	PUBLIC LIBRARY SCIENCE
Place of Publication:	SAN FRANCISCO
ISSN:	1932-6203
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENOME-WIDE ASSOCIATION; HOMOZYGOSITY IDENTIFY; COLORECTAL-CANCER; HUMAN-POPULATIONS; EXTENDED TRACTS; RISK; DISEASE; CONSANGUINITY; RUNS; LOCI Multiple languages Multidisciplinary Sciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27826