rs6588147

This is a regulatory region variant variant in the LEPR gene.

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GWAS Catalog Trait Associations (2)

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

leptin receptor 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 G

OR 0.31

p 2.0e-19

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

C-reactive protein measurement

Oh K et al. “A genome-wide association study of high-sensitivity C-reactive protein in a large Korean population highlights its genetic relationship with cholesterol metabolism.” Scientific Reports 15(1):189 (2025)

Allele A

OR 0.06

p 1.0e-16

N 71,019

Large GWAS

East Asian

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Research that mentions this SNP (1)

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Leptin and leptin receptor genotypes and colon cancer: Gene–gene and gene–lifestyle interactions

AssociationN=3,532Martha L. Slattery et al.(2008)· International Journal of Cancer

Case-control study of 1,567 colon cancer cases and 1,965 controls examining leptin (LEP) and leptin receptor (LEPR) genetic variants. The AA genotype of LEP rs2167270 was associated with reduced colon cancer risk (OR 0.79, 95% CI 0.64-0.98). Significant gene-gene and gene-lifestyle interactions were observed with aspirin/NSAID use, insulin pathway genes (IGF1, IRS2), and vitamin D receptor (VDR) polymorphisms, suggesting mechanisms independent of energy balance.

Traits studied:Colon cancerColorectal cancer

PubMed DOI Metascience Observatory

About LEPR

The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]