Genetic Identification of a Common Collagen Disease in Puerto Ricans via Identity-by-Descent Mapping in a Health System

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, Mariaelisa; North, Kari E.; Peters, Ulrike; James, Regina; Hindorff, Lucia; Kornreich, Ruth; Edelmann, Lisa; Gottesman, Omri; Stahl, Eli Ea; Cho, Judy H.; Loos, Ruth J. F.; Bottinger, Erwin P.; Nadkarni, Girish N.; Abul-Husn, Noura S.; & Kenny, Eimear E. (2017). Genetic Identification of a Common Collagen Disease in Puerto Ricans via Identity-by-Descent Mapping in a Health System. eLife, 6, 25060. PMCID: PMC5595434

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, Mariaelisa; North, Kari E.; Peters, Ulrike; James, Regina; Hindorff, Lucia; Kornreich, Ruth; Edelmann, Lisa; Gottesman, Omri; Stahl, Eli Ea; Cho, Judy H.; Loos, Ruth J. F.; Bottinger, Erwin P.; Nadkarni, Girish N.; Abul-Husn, Noura S.; & Kenny, Eimear E. (2017). Genetic Identification of a Common Collagen Disease in Puerto Ricans via Identity-by-Descent Mapping in a Health System. eLife, 6, 25060. PMCID: PMC5595434

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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.




JOUR



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, Mariaelisa
North, Kari E.
Peters, Ulrike
James, Regina
Hindorff, Lucia
Kornreich, Ruth
Edelmann, Lisa
Gottesman, Omri
Stahl, Eli Ea
Cho, Judy H.
Loos, Ruth J. F.
Bottinger, Erwin P.
Nadkarni, Girish N.
Abul-Husn, Noura S.
Kenny, Eimear E.



2017


eLife

6


25060








PMC5595434


10606

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