rs2242116

This variant is located in the PTH1R gene.

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GWAS Catalog Trait Associations (3)

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

birth weight

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele A
OR 0.02
p 1.0e-9
N 321,223
Large GWAS
multi-ancestry
Horikoshi M et al. “Genome-wide associations for birth weight and correlations with adult disease.” Nature 538(7624):248-252 (2016)
Allele A
OR 0.02
p 1.0e-8
N 142,558
Large GWAS
multi-ancestry

birth weight, parental genotype effect measurement

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele A
OR 0.02
p 1.0e-8
N 230,069
Large GWAS
European

BMI-adjusted waist-hip ratio

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 A
OR 0.02
p 3.0e-11
N 219,872
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (1)

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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women
AssociationN=1,080Li GH et al.(2010)· Osteoporosis International

This case-control association study of 1,080 Chinese women examined 30 SNPs in five candidate genes (PPARG, CRTAP, TDGF1, PTHR1, FLNB) and rs7646054 in ARHGEF3 within chromosome 3p14-25 for associations with bone mineral density (BMD). Multiple SNPs and haplotypes in FLNB and CRTAP showed significant associations with BMD, with the strongest association between lumbar spine BMD and rs9828717 (p=0.005; OR=1.51). CRTAP haplotype G-C of rs4076086-rs7623768 showed protective effects on femoral neck BMD (p=0.003; OR=0.43) and total hip BMD (p=0.007; OR=0.44).

Traits studied:Bone mineral density (BMD)Femoral neck BMDLumbar spine BMDOsteoporosisTotal hip BMD
PubMedDOIMetascience Observatory

About PTH1R

The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

View all PTH1R variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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