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

G. M. Belbin, J. Odgis, E. P. Sorokin, M. C. Yee, S. Kohli, B. S. Glicksberg, C. R. Gignoux, G. L. Wojcik, T. van Vleck, J. M. Jeff, M. Linderman, C. Schurmann, D. Ruderfer, X. Cai, A. Merkelson, A. E. Justice, K. L. Young, M. Graff, K. E. North, U. PeterR. James, L. Hindorff, R. Kornreich, L. Edelmann, O. Gottesman, E. E.A. Stahl, J. H. Cho, R. J.F. Loos, E. P. Bottinger, G. N. Nadkarni, N. S. Abul-Husn, E. E. Kenny

Research output: Contribution to journalArticlepeer-review


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 genetic relatedness that also underlies 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.

Original languageEnglish (US)
JournalUnknown Journal
StatePublished - May 24 2017
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • Immunology and Microbiology(all)
  • Neuroscience(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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