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Article

Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes.

Diabetes - 1 Mar 2016

Ge Yan, Onengut-Gumuscu Suna, Quinlan Aaron R, Mackey Aaron J, Wright Jocyndra A, Buckner Jane H, Habib Tania, Rich Stephen S, Concannon Patrick

Abstract excerpt

Despite finding more than 40 risk loci for type 1 diabetes (T1D), the causative variants and genes remain largely unknown. Here, we sought to identify rare deleterious variants of moderate-to-large effects contributing to T1D. We deeply sequenced 301 protein-coding genes located in 49 previously reported T1D risk loci in 70 T1D cases of European ancestry. These cases were selected from putatively high-risk...

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Share to CD4-Positive T-Lymphocytes
Share to CSK Tyrosine-Protein Kinase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Immunoblotting

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 22

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Source

Open in PubMed Open full text

Identifiers

PMID: 26631741
DOI: 10.2337/db15-0322
PMCID: PMC4764149

Genes

PTPN22
CSK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes.PMID 26631741Read ↗

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