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Integrating genome-wide association and eQTLs studies identifies the genes associated with age at menarche and age at natural menopause
- Source :
- PLoS ONE, PLoS ONE, Vol 14, Iss 6, p e0213953 (2019)
- Publication Year :
- 2019
- Publisher :
- Public Library of Science (PLoS), 2019.
-
Abstract
- ObjectiveAn early onset of menarche and, later, menopause are well-established risk factors for the development of breast cancer and endometrial cancer. Although the largest GWASs have identified 389 independent signals for age at menarche (AAM) and 44 regions for age at menopause (ANM), GWAS can only identify the associations between variants and traits. The aim of this study was to identify genes whose expression levels were associated with AAM or ANM due to pleiotropy or causality by integrating GWAS data with genome-wide expression quantitative trait loci (eQTLs) data. We also aimed to identify the pleiotropic genes that influenced two phenotypes.MethodWe employed GWAS data of AAM and ANM and Genome-wide eQTL data from whole blood. The summary data-based Mendelian randomization (SMR) method was used to prioritize the associated genes for further study. The colocalization analysis was used to identify the pleiotropic genes.ResultsWe identified 31 genes whose expression was associated with AAM and 24 genes whose expression was associated with ANM due to pleiotropy or causality. Two pleiotropic genes were identified to be associated with two phenotypes.ConclusionThe results point out the most possible genes which were responsible for the association. Our study prioritizes the associated genes for further functional mechanistic study of AAM and ANM and illustrates the benefit of integrating different omics of data into the study of complex traits.
- Subjects :
- Physiology
Gene Expression
Genome-wide association study
Endocrinology
Mathematical and Statistical Techniques
0302 clinical medicine
Reproductive Physiology
Pleiotropy
Breast Tumors
Medicine and Health Sciences
Child
Genetics
0303 health sciences
Multidisciplinary
Statistics
Age Factors
Genetic Pleiotropy
Genomics
Middle Aged
Metaanalysis
Phenotype
Oncology
030220 oncology & carcinogenesis
Physical Sciences
Menarche
Medicine
Female
Menopause
Research Article
Adolescent
Science
Quantitative Trait Loci
Biology
Quantitative trait locus
Research and Analysis Methods
Instrumental Variable Analysis
03 medical and health sciences
Breast Cancer
Mendelian randomization
Genome-Wide Association Studies
Humans
Statistical Methods
Gene
Menstrual Cycle
030304 developmental biology
Endocrine Physiology
Biology and Life Sciences
Computational Biology
Cancers and Neoplasms
Human Genetics
Genome Analysis
Omics
Genetic Loci
Expression quantitative trait loci
Mathematics
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 19326203
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- PLOS ONE
- Accession number :
- edsair.doi.dedup.....dfecbebaf2b9bdb837b57f1ee8feb781