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Article

Development of polyphenotypic scores to prioritize detection of G6PD rs1050828 heterozygotes in African and African American populations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2026

Lu Tianyuan, Stein David, Zhang Wenmin, Itan Yuval, Paterson Andrew D

Abstract excerpt

PURPOSE: The G6PD missense variant rs1050828 (NP_000393.4:p.Val98Met) is common in African and African American populations. It lowers HbA1c levels independent of glycemia, increasing the risk of underdiagnosis or delayed diagnosis of diabetes. We aimed to develop polyphenotypic scores (PPS) using routinely collected phenotypes to identify likely heteroygotes. METHODS: Using data from 31,083 African or African...

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Identifiers

PMID: 42170804
DOI: 10.1016/j.gim.2026.101943

Genes

G6PD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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