Assessing the Heritability of Complex Traits in Humans: Methodological Challenges and Opportunities
The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to explore the future directions of research in the heritability field. The target audience are researchers who use heritability data rather th...
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Published in | Current genomics Vol. 18; no. 4; pp. 332 - 340 |
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Main Authors | , |
Format | Journal Article |
Language | English |
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01.08.2017
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Abstract | The goal of this review article is to provide a conceptual based summary of how heritability
estimates for complex traits such as obesity are determined and to explore the future directions of
research in the heritability field. The target audience are researchers who use heritability data rather
than those conducting heritability studies. The article provides an introduction to key concepts critical
to understanding heritability studies including: i) definitions of heritability: broad sense versus narrow
sense heritability; ii) how data for heritability studies are collected: twin, adoption, family and population-
based studies; and iii) analytical techniques: path analysis, structural equations and mixed or regressive
models of complex segregation analysis. For each section, a discussion of how the different
definitions and methodologies influence heritability estimates is provided. The general limitations of
heritability studies are discussed including the issue of "missing heritability" in which heritability estimates
are significantly higher than the variance explained by known genetic variants. Potential causes
of missing heritability include restriction of many genetic association studies to single nucleotide
polymorphisms, gene by gene interactions, epigenetics, and gene by environment interactions. Innovative
strategies of accounting for missing heritability including modeling techniques and improved
software are discussed. |
---|---|
AbstractList | The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to explore the future directions of research in the heritability field. The target audience are researchers who use heritability data rather than those conducting heritability studies. The article provides an introduction to key concepts critical to understanding heritability studies including: i) definitions of heritability: broad sense versus narrow sense heritability; ii) how data for heritability studies are collected: twin, adoption, family and population-based studies; and iii) analytical techniques: path analysis, structural equations and mixed or regressive models of complex segregation analysis. For each section, a discussion of how the different definitions and methodologies influence heritability estimates is provided. The general limitations of heritability studies are discussed including the issue of “missing heritability” in which heritability estimates are significantly higher than the variance explained by known genetic variants. Potential causes of missing heritability include restriction of many genetic association studies to single nucleotide polymorphisms, gene by gene interactions, epigenetics, and gene by environment interactions. Innovative strategies of accounting for missing heritability including modeling techniques and improved software are discussed. The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to explore the future directions of research in the heritability field. The target audience are researchers who use heritability data rather than those conducting heritability studies. The article provides an introduction to key concepts critical to understanding heritability studies including: i) definitions of heritability: broad sense versus narrow sense heritability; ii) how data for heritability studies are collected: twin, adoption, family and population-based studies; and iii) analytical techniques: path analysis, structural equations and mixed or regressive models of complex segregation analysis. For each section, a discussion of how the different definitions and methodologies influence heritability estimates is provided. The general limitations of heritability studies are discussed including the issue of "missing heritability" in which heritability estimates are significantly higher than the variance explained by known genetic variants. Potential causes of missing heritability include restriction of many genetic association studies to single nucleotide polymorphisms, gene by gene interactions, epigenetics, and gene by environment interactions. Innovative strategies of accounting for missing heritability including modeling techniques and improved software are discussed.The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to explore the future directions of research in the heritability field. The target audience are researchers who use heritability data rather than those conducting heritability studies. The article provides an introduction to key concepts critical to understanding heritability studies including: i) definitions of heritability: broad sense versus narrow sense heritability; ii) how data for heritability studies are collected: twin, adoption, family and population-based studies; and iii) analytical techniques: path analysis, structural equations and mixed or regressive models of complex segregation analysis. For each section, a discussion of how the different definitions and methodologies influence heritability estimates is provided. The general limitations of heritability studies are discussed including the issue of "missing heritability" in which heritability estimates are significantly higher than the variance explained by known genetic variants. Potential causes of missing heritability include restriction of many genetic association studies to single nucleotide polymorphisms, gene by gene interactions, epigenetics, and gene by environment interactions. Innovative strategies of accounting for missing heritability including modeling techniques and improved software are discussed. The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to explore the future directions of research in the heritability field. The target audience are researchers who use heritability data rather than those conducting heritability studies. The article provides an introduction to key concepts critical to understanding heritability studies including: i) definitions of heritability: broad sense versus narrow sense heritability; ii) how data for heritability studies are collected: twin, adoption, family and population- based studies; and iii) analytical techniques: path analysis, structural equations and mixed or regressive models of complex segregation analysis. For each section, a discussion of how the different definitions and methodologies influence heritability estimates is provided. The general limitations of heritability studies are discussed including the issue of "missing heritability" in which heritability estimates are significantly higher than the variance explained by known genetic variants. Potential causes of missing heritability include restriction of many genetic association studies to single nucleotide polymorphisms, gene by gene interactions, epigenetics, and gene by environment interactions. Innovative strategies of accounting for missing heritability including modeling techniques and improved software are discussed. |
Author | David Meyre Alexandra J. Mayhew |
Author_xml | – sequence: 1 givenname: Alexandra J. surname: Mayhew fullname: Mayhew, Alexandra J. organization: Department of Health Research Methods, McMaster University, Evidence and Impact, Hamilton, Ontario, Canada – sequence: 2 givenname: David surname: Meyre fullname: Meyre, David organization: Department of Health Research Methods, Evidence and Impact, McMaster University, Michael De Groote Centre for Learning & Discovery, Room 3205, 1280 Main Street West, Hamilton, ON L8S 4K1, Canada |
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Keywords | Family studies Missing heritability Path analysis Heritability Twin studies Complex traits |
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estimates for complex traits such as obesity are determined and to... The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to... |
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SubjectTerms | Epigenetics Estimates Genetic diversity Genetic variance Heritability Mathematical models Population studies Regression analysis Single-nucleotide polymorphism Twin studies |
Title | Assessing the Heritability of Complex Traits in Humans: Methodological Challenges and Opportunities |
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