rs3811140

This is a upstream gene variant variant in the FCN2 gene.

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GWAS Catalog Trait Associations (1)

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

SUN domain-containing protein 3 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.34
p 2.0e-52
N 10,708
Large GWAS
European
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Research that mentions this SNP (2)

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Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
MethodsN=102Agnieszka Szala et al.(2013)· Immunogenetics

This paper describes cost-effective PCR and PCR-RFLP genotyping methods for four functional FCN2 gene SNPs: -64 A>C (rs7865453), -4 A>G (rs17514136), +6359 C>T (rs17549193), and +6424 G>T (rs7851696). These SNPs are associated with L-ficolin serum levels and sugar-binding capacity, with variant alleles at -64/-6424 linked to low L-ficolin levels while -4/+6359 variants correspond to higher values. The methods were validated on 102 healthy Polish adults and show 100% concordance with direct sequencing.

Traits studied:Bacterial infectionsCutaneous leishmaniasisCystic fibrosisCytomegalovirus infectionHepatitis BHepatocellular carcinomaL-ficolin serum levelsL-ficolin sugar-binding capacityPseudomonas aeruginosa colonizationRheumatic feverRheumatic heart diseaseSchistosomiasisStaphylococcal peritonitis
PubMedDOIMetascience Observatory
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Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest China
AssociationN=1,110Deng-Feng Zhang et al.(2013)· Human Genetics

Genetic variants in three complement pathway genes (FCN2, MBL2, CFH) were associated with leprosy susceptibility in 527 Han Chinese patients and 583 controls. Significant variants included FCN2 rs3811140 (OR=2.227, P=0.029) and rs7851696 (OR=2.342, P=0.019) for paucibacillary leprosy, MBL2 rs7100749 and rs11003124 for overall leprosy, and CFH rs3753395 (OR=0.822, P=0.031) and rs1065489 (OR=0.834, P=0.036) showing protective effects. Haplotype CAG in CFH showed strong risk (OR=1.499, P=0.0006) while MBL2 variants demonstrated variable effects on leprosy subtypes.

Traits studied:Borderline-lepromatous leprosyBorderline-tuberculoid leprosyLepromatous leprosyLeprosyMultibacillary leprosyPaucibacillary leprosyTuberculoid leprosy
PubMedDOIMetascience Observatory

About FCN2

The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all FCN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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