rs10512248
This variant is located in the PTCH1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cerebral cortex area attribute
body height
Cleft palate, cleft lip
cortical thickness
▶Research that mentions this SNP (3)
▶Association between PTCH1 and RAD54B single‐nucleotide polymorphisms and non‐syndromic orofacial clefts in a northern Chinese populationAssociationN=1,062Xiaotong Liu et al.(2018)· The Journal of Gene Medicine
This case-control association study examined six SNPs (rs10512248 in PTCH1, rs12681366 and rs958447 in RAD54B, rs13317 in FGFR1, rs1838105 and rs4968247 in WNT9B) in 596 NSOC patients and 466 controls from a Northern Chinese population. Two SNPs showed significant associations with non-syndromic orofacial clefts: PTCH1 rs10512248 (P=0.020) and RAD54B rs12681366, where the CT genotype showed decreased NSOC risk (OR=0.62, 95%CI=0.46-0.82, P=0.001). This replication study confirms GWAS findings in a Northern Chinese population and suggests RAD54B rs12681366 plays a protective role against orofacial clefts.
▶Follow‐up association studies of chromosome region 9q and nonsyndromic cleft lip/palateAssociationN=291Ariadne Letra et al.(2010)· American Journal of Medical Genetics Part A
Fine mapping study of 50 SNPs across chromosome 9q22.3-34.1 in 291 multiplex families from multiple populations identified association with nonsyndromic cleft lip/palate, primarily with STOM (rs306796; P=0.004 in Guatemala, P=0.002 in pooled families, P=0.04 in US). SNPs in PTCH and nearby FOXE1 also showed association, with gene prioritization analysis ranking PTCH and STOM among the top 14 candidate genes in this region.
▶Genome-wide association scan for stature in Chinese: evidence for ethnic specific lociAssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics
Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.
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.
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