A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature.

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Tác giả: Jonathan D Mosley, Josh F Peterson, John P Shelley, Mingjian Shi, Jill H Simmons, Sara L Van Driest

Ngôn ngữ: eng

Ký hiệu phân loại: 324.24101 Political parties

Thông tin xuất bản: England : Genome medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 724210

BACKGROUND: A subset of children with short stature do not have an identified clinical explanation after extensive diagnostic evaluation. We hypothesized that a polygenic score for height (PGS METHODS: We studied 534 pediatric participants in an electronic health record (EHR)-linked DNA biobank (BioVU) who had been evaluated for short stature by an endocrinologist. Participants were classified as having one of five short stature subtypes: primary growth disorders, secondary growth disorders, idiopathic short stature (ISS), which was sub-classified into familial (ISS-F) and non-familial (ISS-NF), and constitutional delay of puberty (ISS-DP). Differences in polygenic predisposition between subtypes were analyzed using a validated PGS RESULTS: Among the 534 participants, 29.0% had secondary growth disorders, 24.9% had ISS-F, 20.2% had ISS-NF, 17.2% had ISS-DP, and 8.6% had primary growth disorders. Participants with ISS-NF had similar PGS CONCLUSIONS: Some children with ISS-NF have an unrecognized polygenic predisposition to shorter height, similar to children with ISS-F and greater than those with growth disorders. A PGS
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