MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.

doi:10.1016/j.humimm.2010.06.007

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Article

MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.

Human immunology - 1 Sept 2010

Pozo Nadia Del, Medrano Luz María, Cénit M Carmen, Fernández-Arquero Miguel, Ferreira Antonio, García-Rodríguez Mari Cruz, de la Concha Emilio G, Urcelay Elena, Núñez Concepción

Abstract excerpt

The etiology of selective IgA deficiency (IgAD) is clearly influenced by human leukocyte antigen (HLA) genetic composition, although the susceptibility observed has not been ascribed to any specific gene/s. A possible role of the MSH5 gene, mapping on this chromosomal region, has been proposed based on its function and on the association of some MSH5 polymorphisms (L85F/P786S and rs3131378) with the disease....

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Identifiers

PMID: 20542071
DOI: 10.1016/j.humimm.2010.06.007

Genes

MSH5

Variants

rs3131378
rs3131378

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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