rs6136

This is a variant in the SELP gene that changes a threonine to an proline.

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GWAS Catalog Trait Associations (4)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele T
OR 1.04
p 2.0e-184
N 3,200
Large GWAS
European
Yao C et al. “Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.” Nature Communications 9(1):3268 (2018)
Allele T
OR 0.61
p 4.0e-87
N 6,861
Large GWAS
European

P-Selectin measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.810
p 3.0e-105
N 3,301
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele G
OR 0.30
p 7.0e-53
N 10,708
Large GWAS
European
Jiang MZ et al. “Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.” Human Molecular Genetics 33(16):1429-1441 (2024)
Allele G
OR 0.24
p 3.0e-54
N 5,032
Major Consortium StudyLarge GWAS
multi-ancestry
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 G
OR 0.64
p 9.0e-24
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.77
p 1.0e-25
N 997
Small GWAS
multi-ancestry

adhesion molecule measurement, soluble P-selectin measurement

Barbalic M et al. “Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.” Human Molecular Genetics 19(9):1863-72 (2010)
Allele T
OR 22.60
p 4.0e-61
N 9,813
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
3 submitters2 publications

SELECTIN P POLYMORPHISM; SELP-related disorder

View on ClinVar →
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Research that mentions this SNP (1)

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P‐selectin genotype is associated with the development of cancer cachexia
AssociationN=876Tan BH et al.(2012)· EMBO Molecular Medicine

Genetic association study of cancer cachexia identified 129 SNPs in 80 candidate genes in 775 cancer patients. The C allele of rs6136 in the SELP gene (encoding P-selectin) was significantly associated with reduced risk of cancer cachexia (weight loss >10%) in both the main study (OR 0.52; p=0.026) and validation cohort (OR 0.09; p=0.035). Multiple other genes including APEH, GHRL, TNFRSF1A, and CNR1 showed significant associations with cachexia-related traits.

Traits studied:Cancer cachexiaSerum P-selectin levelsWeight loss >10%Weight loss >15%Weight loss >5%Weight loss with systemic inflammation
PubMedDOIMetascience Observatory

About SELP

This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]

View all SELP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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