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Article

New insight on the Xq28 association with systemic sclerosis.

Annals of the rheumatic diseases - 1 Dec 2013

Carmona F David, Cénit M Carmen, Diaz-Gallo Lina-Marcela, Broen Jasper C A, Simeón Carmen P, Carreira Patricia E, Callejas-Rubio José-Luis, Fonollosa Vicente, López-Longo Francisco J, González-Gay Miguel A, Hunzelmann Nicolas, Riemekasten Gabriela, Witte Torsten, Kreuter Alexander, Distler Jörg H W, Madhok Rajan, Shiels Paul, van Laar Jacob M, Schuerwegh Annemie J, Vonk Madelon C, Voskuyl Alexandre E, Fonseca Carmen, Denton Christopher P, Herrick Ariane, Worthington Jane, Arnett Frank C, Tan Filemon K, Assassi Shervin, Radstake Timothy R D J, Mayes Maureen D, Martín Javier

Abstract excerpt

OBJECTIVE: To evaluate whether the systemic sclerosis (SSc)-associated IRAK1 non-synonymous single-nucleotide polymorphism rs1059702 is responsible for the Xq28 association with SSc or whether there are other independent signals in the nearby methyl-CpG-binding protein 2 gene (MECP2). METHODS: We analysed a total of 3065 women with SSc and 2630 unaffected controls from five independent Caucasian cohorts. Four tag...

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Topics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, X
Share to Genetic Diseases, X-Linked
Share to Haplotypes
Share to Interleukin-1 Receptor-Associated Kinases
Share to Linkage Disequilibrium
Share to Methyl-CpG-Binding Protein 2
Share to Pulmonary Fibrosis
Share to Scleroderma, Systemic

Source

Open in PubMed Open full text

Identifiers

PMID: 23444193
DOI: 10.1136/annrheumdis-2012-202742
PMCID: PMC3818491

Genes

IRAK1
MECP2

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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