Cited by 143Genetic Associations and EpidemiologyBioinformatics and Genomic NetworksGenetic and phenotypic traits in livestock

Statistical methods to detect pleiotropy in human complex traits

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Hackinger, Sophie, Zeggini, Eleftheria·2017·Open Biology

Abstract

In recent years pleiotropy, the phenomenon of one genetic locus influencing several traits, has become a widely researched field in human genetics. With the increasing availability of genome-wide association study summary statistics, as well as the establishment of deeply phenotyped sample collections, it is now possible to systematically assess the genetic overlap between multiple traits and diseases. In addition to increasing power to detect associated variants, multi-trait methods can also aid our understanding of how different disorders are aetiologically linked by highlighting relevant biological pathways. A plethora of available tools to perform such analyses exists, each with their own advantages and limitations. In this review, we outline some of the currently available methods to conduct multi-trait analyses. First, we briefly introduce the concept of pleiotropy and outline the current landscape of pleiotropy research in human genetics; second, we describe analytical considerations and analysis methods; finally, we discuss future directions for the field.

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Authors
Hackinger, S., & Zeggini, E.
Affiliations
Wellcome Sanger Institute (GB)
Corresponding author
Zeggini, Eleftheria
Venue
Open Biology
Published
2017-11
Volume
7
Issue
11
ISSN
2046-2441 (ISSN-L)
OpenAlex
W2766556645
Cited by
143
References
155
Citations by year
2026: 7 · 2025: 7 · 2024: 12 · 2023: 19 · 2022: 36 · 2021: 15 · 2020: 23 · 2019: 17 · 2018: 7
FWCI
1.65
Type
journal article
Language
en
Open access
Locations
  • Open Biology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
Wellcome Trust (WT098051)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords
pleiotropy, multi-trait analysis, genetic overlap, complex traits, biological pathways, statistical analysis
MeSH terms
Humans, Quantitative Trait, Heritable, Quantitative Trait Loci, Genome-Wide Association Study, Genetic Pleiotropy

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