دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.
المؤلفون: Belbin GM; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.; The Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, United States., Odgis J; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States., Sorokin EP; Department of Genetics, Stanford University School of Medicine, Stanford, United States., Yee MC; Department of Plant Biology, Carnegie Institution for Science, Stanford, United States., Kohli S; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Glicksberg BS; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.; The Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, United States.; Harris Center for Precision Wellness, Icahn School of Medicine at Mt Sinai, New York, United States., Gignoux CR; Department of Genetics, Stanford University School of Medicine, Stanford, United States., Wojcik GL; Department of Genetics, Stanford University School of Medicine, Stanford, United States., Van Vleck T; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Jeff JM; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Linderman M; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.; The Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, United States., Schurmann C; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Ruderfer D; Broad Institute, Cambridge, United States.; Division of Psychiatric Genomics, Icahn School of Medicine at Mt Sinai, New York, United States.; Center for Statistical Genetics, Icahn School of Medicine at Mt Sinai, New York, United States., Cai X; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States., Merkelson A; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Justice AE; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States., Young KL; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States., Graff M; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States., North KE; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States., Peters U; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, United States.; Department of Epidemiology, University of Washington School of Public Health, Seattle, United States., James R; National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, United States., Hindorff L; National Human Genome Research Institute, National Institutes of Health, Bethesda, United States., Kornreich R; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States., Edelmann L; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States., Gottesman O; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Stahl EE; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.; The Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, United States.; Harris Center for Precision Wellness, Icahn School of Medicine at Mt Sinai, New York, United States.; Broad Institute, Cambridge, United States., Cho JH; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.; Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, United States., Loos RJ; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, United States., Bottinger EP; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Nadkarni GN; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States., Abul-Husn NS; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.; The Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, United States., Kenny EE; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.; The Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, United States.; Center for Statistical Genetics, Icahn School of Medicine at Mt Sinai, New York, United States.
المصدر: ELife [Elife] 2017 Sep 12; Vol. 6. Date of Electronic Publication: 2017 Sep 12.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Cambridge, UK : eLife Sciences Publications, Ltd., 2012-
مواضيع طبية MeSH: Molecular Epidemiology* , Pedigree*, Collagen Diseases/*epidemiology , Collagen Diseases/*genetics , Fibrillar Collagens/*genetics, Adolescent ; Adult ; Aged ; Child ; Female ; Genotype ; Heterozygote ; Hispanic or Latino ; Homozygote ; Humans ; Male ; Middle Aged ; Multigene Family ; Musculoskeletal Diseases/epidemiology ; Musculoskeletal Diseases/genetics ; New York City/epidemiology ; New York City/ethnology ; Whole Genome Sequencing ; Young Adult
مستخلص: 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 Me 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.
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معلومات مُعتمدة: U01 HG007417 United States HG NHGRI NIH HHS; P30 ES010126 United States ES NIEHS NIH HHS; U01 HG007419 United States HG NHGRI NIH HHS; U01 HG007416 United States HG NHGRI NIH HHS; R00 HL130580 United States HL NHLBI NIH HHS; U01 HG007376 United States HG NHGRI NIH HHS; S10 OD018522 United States OD NIH HHS; HHSN268201200008C United States HL NHLBI NIH HHS; U01 HG009080 United States HG NHGRI NIH HHS; HHSN268201200008I United States HL NHLBI NIH HHS; U01 HG007397 United States HG NHGRI NIH HHS
فهرسة مساهمة: Keywords: Electronic Health Records; GWAS; collagen disorder; evolutionary biology; genomics; human; human biology; medical genetics; medicine; population genetics
المشرفين على المادة: 0 (COL27A1 protein, human)
0 (Fibrillar Collagens)
تواريخ الأحداث: Date Created: 20170913 Date Completed: 20180509 Latest Revision: 20211204
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC5595434
DOI: 10.7554/eLife.25060
PMID: 28895531
قاعدة البيانات: MEDLINE
الوصف
تدمد:2050-084X
DOI:10.7554/eLife.25060