Skip Navigation
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

National Institute of Environmental Health Sciences

Use this QR code to view the newest version of this document
Use this QR code to view the newest version of this document

Your Environment. Your Health.

Publication Detail

Title: Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

Authors: Belbin, Gillian Morven; Odgis, Jacqueline; Sorokin, Elena P; Yee, Muh-Ching; Kohli, Sumita; Glicksberg, Benjamin S; Gignoux, Christopher R; Wojcik, Genevieve L; Van Vleck, Tielman; Jeff, Janina M; Linderman, Michael; Schurmann, Claudia; Ruderfer, Douglas; Cai, Xiaoqiang; Merkelson, Amanda; Justice, Anne E; Young, Kristin L; Graff, Misa; North, Kari E; Peters, Ulrike; James, Regina; Hindorff, Lucia; Kornreich, Ruth; Edelmann, Lisa; Gottesman, Omri; Stahl, Eli Ea; Cho, Judy H; Loos, Ruth Jf; Bottinger, Erwin P; Nadkarni, Girish N; Abul-Husn, Noura S; Kenny, Eimear E

Published In Elife, (2017 09 12)

Abstract: Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic BioMe biobank in New York City. By linking to medical records, we discover a locus associated with both elevated genetic relatedness and extreme short stature. We link the gene, COL27A1, with a little-known genetic disease, previously thought to be rare and recessive. We demonstrate that disease manifests in both heterozygotes and homozygotes, indicating a common collagen disorder impacting up to 2% of individuals of Puerto Rican ancestry, leading to a better understanding of the continuum of complex and Mendelian disease.

PubMed ID: 28895531 Exiting the NIEHS site

MeSH Terms: Adolescent; Adult; Aged; Child; Collagen Diseases/epidemiology*; Collagen Diseases/genetics*; Female; Fibrillar Collagens/genetics*; Genotype; Heterozygote; Hispanic Americans; Homozygote; Humans; Male; Middle Aged; Molecular Epidemiology*; Multigene Family; Musculoskeletal Diseases/epidemiology; Musculoskeletal Diseases/genetics; New York City/epidemiology; New York City/ethnology; Pedigree*; Whole Genome Sequencing; Young Adult

Back
to Top