rs17559

This variant is located in the IGFALS gene.

▶

GWAS Catalog Trait Associations (1)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.02
p 2.0e-11
N 293,593
Large GWAS
African unspecified
▶

ClinVar annotation

Benign★★★☆
3 submitters1 publication

Short stature due to primary acid-labile subunit deficiency; not provided

View on ClinVar →
▶

Research that mentions this SNP (2)

▶
Insulin‐like growth factor pathway genes and blood concentrations, dietary protein and risk of prostate cancer in the NCI Breast and Prostate Cancer Cohort Consortium (BPC3)
AssociationN=10,216Tsilidis KK et al.(2013)· International Journal of Cancer

This nested case-control study (5,253 cases, 4,963 controls) examined 16 SNPs in IGF pathway genes and their associations with prostate cancer risk, testing gene-environment interactions with dietary protein intake. Although the 16 SNPs were significantly associated with circulating IGF-1 or IGFBP-3 levels as expected, none were significantly associated with prostate cancer risk, and the SNP-protein interactions did not substantially differ by protein intake after multiple testing correction.

Traits studied:IGF-1 concentrationsIGFBP-3 concentrationsProstate cancer
PubMedDOIMetascience Observatory
▶
Genetic and plasma variation of insulin‐like growth factor binding proteins in relation to prostate cancer incidence and survival
AssociationN=4,510Mattias Johansson et al.(2009)· The Prostate

Case-control study of 2,774 prostate cancer cases and 1,736 controls examining genetic variation in IGFBP1, IGFBP3, and IGFALS genes in relation to prostate cancer incidence and survival. The rs2854744 variant in IGFBP3 was associated with elevated total IGFBP3 plasma levels (P=9×10⁻⁸), and elevated intact IGFBP3 was associated with increased risk of prostate cancer-specific death (P=6×10⁻¹⁴ unadjusted, P=0.0004 adjusted). No clear associations were found between genetic variants and prostate cancer incidence or overall survival.

Traits studied:Prostate cancer incidenceProstate cancer survivalProstate cancer-specific death
PubMedDOIMetascience Observatory

About IGFALS

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

View all IGFALS 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…