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Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.

Molecular immunology - 1 Aug 2009

Blaskó Bernadett, Bánlaki Zsófia, Gyapay Gabor, Pozsonyi Eva, Sasvári-Székely Mária, Rajczy Katalin, Füst George, Szilágyi Agnes

Abstract excerpt

Genes encoding the steroid 21-hydroxylase (CYP21A2) and the complement component C4 proteins (C4A and C4B) are located in the MHC region in a strongly linked structure named RCCX module. Previous studies found that carriers of C4B gene deficiency (C4B*Q0) have higher risk for cardiovascular diseases. A potential explanation is that lacking the C4B gene may result in altered function of the neighboring CYP21A2...

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PMID: 19505723
DOI: 10.1016/j.molimm.2009.04.033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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