Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system. Belbin, G. M., Odgis, J., Sorokin, E. P., Yee, M., Kohli, S., Glicksberg, B. S., Gignoux, C. R., Wojcik, G. L., Van Vleck, T., Jeff, J. M., Linderman, M., Schurmann, C., Ruderfer, D., Cai, X., Merkelson, A., Justice, A. E., Young, K. L., Graff, M., North, K. E., Peters, U., James, R., Hindorff, L., Kornreich, R., Edelmann, L., Gottesman, O., Stahl, E. E., Cho, J. H., Loos, R. J., Bottinger, E. P., Nadkarni, G. N., Abul-Husn, N. S., & Kenny, E. E. eLife, September, 2017. ![Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system. [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 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 Bio 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, , 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.
@article{BelbinOdgisSorokinEtAl2017,
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 Bio 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, , 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.},
author = {Belbin, Gillian Morven and Odgis, Jacqueline and Sorokin, Elena P. and Yee, Muh-Ching and Kohli, Sumita and Glicksberg, Benjamin S. and Gignoux, Christopher R. and Wojcik, Genevieve L. and Van Vleck, Tielman and Jeff, Janina M. and Linderman, Michael and Schurmann, Claudia and Ruderfer, Douglas and Cai, Xiaoqiang and Merkelson, Amanda and Justice, Anne E. and Young, Kristin L. and Graff, Misa and North, Kari E. and Peters, Ulrike and James, Regina and Hindorff, Lucia and Kornreich, Ruth and Edelmann, Lisa and Gottesman, Omri and Stahl, Eli Ea and Cho, Judy H. and Loos, Ruth Jf and Bottinger, Erwin P. and Nadkarni, Girish N. and Abul-Husn, Noura S. and Kenny, Eimear E.},
chemicals = {COL27A1 protein, human, Fibrillar Collagens},
citation-subset = {IM},
completed = {2018-05-09},
country = {England},
doi = {10.7554/eLife.25060},
issn = {2050-084X},
issn-linking = {2050-084X},
journal = {eLife},
keywords = {Adolescent; Adult; Aged; Child; Collagen Diseases, epidemiology, genetics; Female; Fibrillar Collagens, genetics; Genotype; Heterozygote; Hispanic Americans; Homozygote; Humans; Male; Middle Aged; Molecular Epidemiology; Multigene Family; Musculoskeletal Diseases, epidemiology, genetics; New York City, epidemiology, ethnology; Pedigree; Whole Genome Sequencing; Young Adult; Electronic Health Records; {GWAS}; collagen disorder; evolutionary biology; genomics; human; human biology; medical genetics; medicine; population genetics},
month = sep,
nlm-id = {101579614},
owner = {NLM},
pii = {e25060},
pmc = {PMC5595434},
pmid = {28895531},
url = {https://pubmed.ncbi.nlm.nih.gov/28895531/},
pubmodel = {Electronic},
pubstate = {epublish},
revised = {2019-05-30},
title = {Genetic identification of a common collagen disease in {Puerto Ricans} via identity-by-descent mapping in a health system.},
volume = {6},
year = {2017},
bdsk-url-1 = {https://pubmed.ncbi.nlm.nih.gov/28895531/},
bdsk-url-2 = {https://doi.org/10.7554/eLife.25060}}
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