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Article

Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases.

Arthritis research & therapy - 21 May 2014

Roberts Amy L, Thomas Ellen Ra, Bhosle Shriram, Game Laurence, Obraztsova Olga, Aitman Timothy J, Vyse Timothy J, Rhodes Benjamin

Abstract excerpt

INTRODUCTION: The majority of the genetic variance of systemic lupus erythematosus (SLE) remains unexplained by the common disease-common variant hypothesis. Rare variants, which are not detectable by genome-wide association studies because of their low frequencies, are predicted to explain part of this "missing heritability." However, recent studies identifying rare variants within known disease-susceptibility...

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Topics

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Share to CD11b Antigen
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lupus Erythematosus, Systemic

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Source

Open in PubMed Open full text

Identifiers

PMID: 24886912
DOI: 10.1186/ar4566
PMCID: PMC4060450

Genes

ITGAM

Variants

rs1143683
rs1143683

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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Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases.PMID 24886912Read ↗

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The CD11b-integrin (ITGAM) and systemic lupus erythematosus.Semantic proximity Read ↗

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Phagocytosis is the main CR3-mediated function affected by the lupus-associated variant of CD11b in human myeloid cells.Semantic proximity Read ↗

A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.Semantic proximity Read ↗

Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.Semantic proximity Read ↗

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ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry.Semantic proximity Read ↗

ITGAM rs1143679 Variant in Systemic Lupus Erythematosus Is Associated with Increased Serum Calcification Propensity.Semantic proximity Read ↗

Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosusSemantic proximity Read ↗

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