rs28427480

This is a upstream gene variant variant in the PTCH1 gene.

▶

GWAS Catalog Trait Associations (9)

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

anxiety measurement

Thorp JG et al. “Symptom-level modelling unravels the shared genetic architecture of anxiety and depression.” Nature Human Behaviour 5(10):1432-1442 (2021)
Allele A
OR 0.04
p 1.0e-25
N 136,957
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.05
p 4.0e-24
N 186,825
Major Consortium StudyLarge GWAS
European

forced expiratory volume

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.03
p 1.0e-17
N 373,397
Large GWAS
European

wellbeing measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele C
OR 0.01
p 1.0e-14
N 2,083,151
Large GWAS
European

osteoarthritis

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 1.03
p 1.0e-10
N 1,962,069
Large GWAS
multi-ancestry

forced expiratory volume, 25-hydroxyvitamin D3 measurement

Seo J et al. “Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function.” The American Journal of Clinical Nutrition 119(5):1227-1237 (2024)
Allele C
OR —
p 2.0e-10
N 95,952
Meta-analysisLarge GWAS
multi-ancestry

brain connectivity attribute

Sha Z et al. “Genetic architecture of the white matter connectome of the human brain.” Science Advances 9(7):eadd2870 (2023)
Allele A
OR 5.98
p 2.0e-9
N 30,810
Large GWAS
European

About PTCH1

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

View all PTCH1 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…