Polygenic architecture | Nature Genetics

Polygenic architecture | Nature Genetics

Play all audios:

Loading...

Access through your institution Buy or subscribe Peter Visscher and colleagues examine the genetic architecture of body mass index (BMI) and height using a within-family approach that uses realized genetic sharing between 20,240 sibling pairs from 9,577 nuclear families (_Am. J. Hum. Genet._ doi:10.1016/j.ajhg.2013.10.005, 31 October 2013). They calculate identity by descent (IBD) for each sibling pair using ∼20,000 SNPs in linkage equilibrium. They estimate the narrow-sense heritability for BMI at 0.42 (s.e.m. = 0.17) and for height at 0.69 (s.e.m. = 0.14), and suggest that previous heritability estimates for BMI were likely overestimates. They find a positive correlation of partitioned genetic variance with chromosome size for both BMI and height, consistent with a polygenic architecture. They perform a within-family linkage study for height and BMI and show increasing genomic inflation factors proportional to sample size. Their simulations show that this linkage analysis is robust to population stratification as well as to genetic heterogeneity between cohorts. They further demonstrate that the observed data are consistent with simulations assuming a polygenic architecture including both common and rare variation. They also suggest that polygenic architecture has contributed to failures to replicate linkage studies. They estimate that 67% and 40% of variance for height and BMI, respectively, is captured by common SNPs. This is a preview of subscription content, access via your institution ACCESS OPTIONS Access through your institution Subscribe to this journal Receive 12 print issues and online access $209.00 per year only $17.42 per issue Learn more Buy this article * Purchase on SpringerLink * Instant access to full article PDF Buy now Prices may be subject to local taxes which are calculated during checkout ADDITIONAL ACCESS OPTIONS: * Log in * Learn about institutional subscriptions * Read our FAQs * Contact customer support Authors * Orli Bahcall View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Bahcall, O. Polygenic architecture. _Nat Genet_ 45, 1417 (2013). https://doi.org/10.1038/ng.2839 Download citation * Published: 25 November 2013 * Issue Date: December 2013 * DOI: https://doi.org/10.1038/ng.2839 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative

Access through your institution Buy or subscribe Peter Visscher and colleagues examine the genetic architecture of body mass index (BMI) and height using a within-family approach that uses


realized genetic sharing between 20,240 sibling pairs from 9,577 nuclear families (_Am. J. Hum. Genet._ doi:10.1016/j.ajhg.2013.10.005, 31 October 2013). They calculate identity by descent


(IBD) for each sibling pair using ∼20,000 SNPs in linkage equilibrium. They estimate the narrow-sense heritability for BMI at 0.42 (s.e.m. = 0.17) and for height at 0.69 (s.e.m. = 0.14), and


suggest that previous heritability estimates for BMI were likely overestimates. They find a positive correlation of partitioned genetic variance with chromosome size for both BMI and


height, consistent with a polygenic architecture. They perform a within-family linkage study for height and BMI and show increasing genomic inflation factors proportional to sample size.


Their simulations show that this linkage analysis is robust to population stratification as well as to genetic heterogeneity between cohorts. They further demonstrate that the observed data


are consistent with simulations assuming a polygenic architecture including both common and rare variation. They also suggest that polygenic architecture has contributed to failures to


replicate linkage studies. They estimate that 67% and 40% of variance for height and BMI, respectively, is captured by common SNPs. This is a preview of subscription content, access via your


institution ACCESS OPTIONS Access through your institution Subscribe to this journal Receive 12 print issues and online access $209.00 per year only $17.42 per issue Learn more Buy this


article * Purchase on SpringerLink * Instant access to full article PDF Buy now Prices may be subject to local taxes which are calculated during checkout ADDITIONAL ACCESS OPTIONS: * Log in


* Learn about institutional subscriptions * Read our FAQs * Contact customer support Authors * Orli Bahcall View author publications You can also search for this author inPubMed Google


Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Bahcall, O. Polygenic architecture. _Nat Genet_ 45, 1417 (2013). https://doi.org/10.1038/ng.2839


Download citation * Published: 25 November 2013 * Issue Date: December 2013 * DOI: https://doi.org/10.1038/ng.2839 SHARE THIS ARTICLE Anyone you share the following link with will be able to


read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing


initiative