A positively selected, common, missense variant in FBN1 confers a 2.2 centimeter reduction of height in the Peruvian population
Gillian M. Belbin,
Jerome T. Galea,
Julia M. Coit,
Rosalynn M. Nazarian,
Timothy D. O’Connor,
Harry C. Dietz,
Eimear E Kenny,
Megan B. Murray,
Posted 26 Feb 2019
bioRxiv DOI: 10.1101/561241
Posted 26 Feb 2019
Peruvians are among the shortest people in the world. To understand the genetic basis of short stature in Peru, we examined an ethnically diverse group of Peruvians and identified a novel, population-specific, missense variant in FBN1 (E1297G) that is significantly associated with lower height in the Peruvian population. Each copy of the minor allele (frequency = 4.7%) reduces height by 2.2 cm (4.4 cm in homozygous individuals). This is the largest effect size known for a common height-associated variant. This variant shows strong evidence of positive selection within the Peruvian population and is significantly more frequent in Native American populations from coastal regions of Peru compared to populations from the Andes or the Amazon, suggesting that short stature in Peruvians is the result of adaptation to the coastal environment.
- Downloaded 1,336 times
- Download rankings, all-time:
- Site-wide: 7,374 out of 92,411
- In genomics: 1,131 out of 5,828
- Year to date:
- Site-wide: 9,128 out of 92,411
- Since beginning of last month:
- Site-wide: 16,467 out of 92,411
Downloads over time
Distribution of downloads per paper, site-wide
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!