rs3753473

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

YKL40 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.41
p 1.0e-14
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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Research that mentions this SNP (1)

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Brief Report: Enrichment of associations in genes with fibrosis, apoptosis, and innate immunity functions with cardiac manifestations of neonatal lupus
AssociationN=3,467Paula S. Ramos et al.(2012)· Arthritis &amp; Rheumatism

Pathway-based GWAS in 116 cardiac neonatal lupus children and 3,351 controls identified significant enrichment of genetic associations in genes related to fibrosis (P=2.27×10⁻⁹), apoptosis (P=7.67×10⁻⁷), and innate immunity (P=2.53×10⁻⁶). The strongest non-HLA associations were ST8SIA2 (rs1487982, OR=2.20), ITGA1 (rs2432143, OR=2.31), and CSMD1 (rs7002001, OR=2.41), implicating dysregulation of inflammatory and fibrotic pathways in cardiac manifestations of neonatal lupus.

Traits studied:Cardiac manifestations of neonatal lupusCardiomyopathyHeart block
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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