rs4253311

This variant is located in the KLKB1 gene.

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GWAS Catalog Trait Associations (6)

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

bradykinin, des-arg 9 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR —
β 0.141
p 4.0e-48
N 4,570
Large GWAS
European

level of plexin domain-containing protein 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.07
p 2.0e-30
N 47,745
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele G
OR 0.21
p 8.0e-30
N 5,368
Large GWAS
European

osteopontin measurement

Cheng Y et al. “Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study.” Plos Genetics 18(4):e1010139 (2022)
Allele G
OR 0.14
p 5.0e-20
N 4,897
Large GWAS
European

HWESASLLR measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.23
p 5.0e-15
N 2,438
Large GWAS
multi-ancestry

protein MENT measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.180
p 1.0e-13
N 3,301
Large GWAS
European
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Research that mentions this SNP (1)

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An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus
AssociationN=4,897Forton AC et al.(2002)· Human Mutation

Genome-wide association study of osteopontin (OPN) levels in 4,897 European chronic kidney disease patients identified 3 genome-wide significant loci (p < 5.0E-08). Two loci replicated in the Young Finns Study: rs10011284 upstream of SPP1 (encoding OPN; beta = -0.10, p = 8.59e-11) and rs4253311 in KLKB1 (encoding prekallikrein; beta = -0.14, p = 5.29e-20). A third locus rs2731673 near F12/GRK6 did not replicate. Rare variant testing identified SPP1 as significant (p = 2.5E-8), implicating OPN genetics in chronic kidney disease pathophysiology.

Traits studied:Chronic kidney diseaseOsteopontin serum levels
PubMedDOIMetascience Observatory

About KLKB1

This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

View all KLKB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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