Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations

Regions of restricted genetic heterogeneity due to identity by descent (autozygosity) are known to confer susceptibility to a number of diseases. Regions of germline homozygosity (ROHs) of 1–2 Mb, the result of autozygosity, are detectable at high frequency in outbred populations. Recent studies hav...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2010-08, Vol.18 (8), p.909-914
Main Authors: Enciso-Mora, Victor, Hosking, Fay J, Houlston, Richard S
Format: Article
Language:English
Subjects:
631/208/727/2000
692/699/2768/466
692/699/67/1347
Alleles
Bioinformatics
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Breast cancer
Breast Neoplasms - epidemiology
Breast Neoplasms - genetics
Case-Control Studies
Colorectal cancer
Cytogenetics
Disease
Evolution & development
Female
Fundamental and applied biological sciences. Psychology
Gene Expression
Gene mapping
Gene polymorphism
General aspects. Genetic counseling
Genes
Genetic Markers
Genetic Predisposition to Disease
Genetic Variation
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genome-Wide Association Study
Genomes
Gynecology. Andrology. Obstetrics
Health risk assessment
Hemizygosity
Homozygote
Human Genetics
Humans
Hypotheses
Male
Mammary gland diseases
Medical genetics
Medical research
Medical sciences
Molecular and cellular biology
Mutation
Polymorphism, Single Nucleotide
Population genetics
Population studies
Prostate
Prostate cancer
Prostatic Neoplasms - epidemiology
Prostatic Neoplasms - genetics
Risk
Single-nucleotide polymorphism
Statistical analysis
Studies
Tumors
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Summary:Regions of restricted genetic heterogeneity due to identity by descent (autozygosity) are known to confer susceptibility to a number of diseases. Regions of germline homozygosity (ROHs) of 1–2 Mb, the result of autozygosity, are detectable at high frequency in outbred populations. Recent studies have reported that ROHs, possibly through exposing recessive disease-causing alleles or alternative mechanisms, are associated with an increased cancer risk. To examine whether homozygosity is associated with breast or prostate cancer risk, we analysed 500K single-nucleotide polymorphism data from two genome-wide association studies conducted by the Cancer Genetics Markers of Susceptibility initiatives ( http://cgems.cancer.gov/ ). Six common ROHs were associated with breast cancer risk and four with prostate cancer ( P
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2010.53