Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.
Elife
; 62017 09 12.
Article
em En
| MEDLINE
| ID: mdl-28895531
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Linhagem
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Doenças do Colágeno
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Epidemiologia Molecular
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Colágenos Fibrilares
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Female
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Humans
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Male
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Middle aged
País como assunto:
America do norte
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article