rs13118928

This is a intergenic variant variant in the HHIP gene.

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GWAS Catalog Trait Associations (2)

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

FEV/FVC ratio, response to bronchodilator

Lutz SM et al. “A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.” Bmc Genetics 16:138 (2015)

Allele A

OR —

β 0.016

p 3.0e-16

N 13,532

Large GWAS

multi-ancestry

forced expiratory volume, response to bronchodilator

Lutz SM et al. “A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.” Bmc Genetics 16:138 (2015)

Allele A

OR —

β 0.067

p 1.0e-12

N 13,532

Large GWAS

multi-ancestry

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ClinVar annotation

Association

1 submitter

Chronic obstructive pulmonary disease; Chronic obstructive pulmonary disease, biomass related

View on ClinVar →

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Research that mentions this SNP (1)

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Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility

AssociationN=5,296Mateusz Siedlinski et al.(2013)· Human Genetics

This mediation analysis study of 3,424 COPD cases and 1,872 controls examined direct and indirect genetic effects of known COPD susceptibility loci. The AGPHD1/CHRNA3 variants (rs1051730, rs8034191) showed ~30% of their total effect on COPD mediated by pack-years smoking (OR 1.256-1.305), while IREB2 (rs13180) showed no significant smoking-mediated effect, suggesting independent pathways. FAM13A (rs7671167) and HHIP (rs13118928) demonstrated direct effects on COPD independent of smoking.

Traits studied:Chronic obstructive pulmonary disease (COPD)Number of cigarettes per dayPack-years smokedSmoking intensity

PubMed DOI Metascience Observatory

About HHIP

This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]