Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

Kerick, M. (författare): CSIC Institute of Parasitology and Biomedicine Lopez-Neyra (IPBLN)

Hesselstrand, R. (författare): Lund University,Lunds universitet,Hjärt-lungsjukdom - information, stöd och bemötande,Forskargrupper vid Lunds universitet,Forskargruppen för systemisk skleros, Lund,Cardiopulmonary disease - information, support and reception,Lund University Research Groups,Lund Systemic Sclerosis Research Group

Martin, Javier (författare): CSIC Institute of Parasitology and Biomedicine Lopez-Neyra (IPBLN)

(creator_code:org_t)

2022-10-05
2022
Engelska.
Ingår i: npj Genomic Medicine. - : Springer Science and Business Media LLC. - 2056-7944. ; 7:1

Relaterad länk:: http://dx.doi.org/10... (free); visa fler...; https://lup.lub.lu.s...; https://doi.org/10.1...; visa färre...

Abstract Ämnesord

Stäng

Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk. The protection contributed per copy of C4A and C4B differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals. © 2022, The Author(s).

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)

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