rs6700896

This is a intron variant variant in the LEPR gene.

▶

GWAS Catalog Trait Associations (5)

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

neutrophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 2.0e-29
N 394,642
Large GWAS
European

mean corpuscular hemoglobin

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.03
p 1.0e-15
N 172,332
Large GWAS
European

C-reactive protein measurement

Elliott P. et al. “Genetic Loci Associated With C-Reactive Protein Levels and Risk of Coronary Heart Disease” Jama (2009)
Allele T
OR 14.80
p 3.0e-14
N 17,967
Large GWAS
South Asian, European

plasma leucine rich alpha-2-glycoprotein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 1.0e-11
N 47,745
Large GWAS
European

erythrocyte volume

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.02
p 4.0e-11
N 172,433
Large GWAS
European
▶

Research that mentions this SNP (2)

▶
Association of nonalcoholic fatty liver disease with a single nucleotide polymorphism on the gene encoding leptin receptor
AssociationN=120Menha Swellam et al.(2012)· IUBMB Life

This case-control study examined the association between leptin receptor (LepR) SNP rs6700896 and nonalcoholic fatty liver disease (NAFLD) in 90 obese NAFLD patients and 30 lean controls. The mutant allele was significantly more frequent in moderate-severe steatosis (81.5% vs 18.5%; OR=5.5, p<0.0001) and in NAFLD with T2DM (57.4% vs 42.6%; OR=2.696, p=0.021). The polymorphism was associated with increased insulin resistance (HOMA, OR=6.3, p<0.0001) and may contribute to NAFLD pathogenesis through effects on lipid metabolism and insulin sensitivity.

Traits studied:Hepatic steatosisInsulin resistanceNonalcoholic fatty liver diseaseObesityType 2 diabetes mellitus
PubMedDOIMetascience Observatory
▶
Genetic Loci Associated With C-Reactive Protein Levels and Risk of Coronary Heart Disease
AssociationN=130,857Elliott P. et al.(2009)· JAMA

Genome-wide association study identified five genetic loci influencing C-reactive protein (CRP) levels: rs6700896 in LEPR (-14.7% per allele, OR 1.06 for CHD), rs4537545 in IL6R (-10.8%, OR 0.94 for CHD), rs7553007 in CRP locus (-20.7%, OR 0.98 for CHD), rs1183910 in HNF1A (-13.6%), and rs4420638 in APOE-CI-CII (-21.8%, OR 1.16 for CHD). Mendelian randomization analysis of 28,112 CHD cases and 100,823 controls found no causal association between CRP genetic variants and coronary heart disease (OR 1.00, 95% CI 0.97-1.02), arguing against CRP having a causal role in atherosclerosis.

Traits studied:C-reactive protein levelsCoronary heart diseaseHDL cholesterolLDL cholesterolMyocardial infarctionTotal cholesterolTriglycerides
PubMedDOIMetascience 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]

View all LEPR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…