rs12140

This variant is located in the ADAMTS1 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 C
OR 0.01
p 6.0e-9
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
▶

Research that mentions this SNP (1)

▶
Single nucleotide polymorphisms within MicroRNAs, MicroRNA targets, and MicroRNA biogenesis genes and their impact on colorectal cancer survival
AssociationN=2,288Lila E. Mullany et al.(2017)· Genes, Chromosomes and Cancer

A candidate gene study of 1115 colorectal cancer cases and 1173 controls examined associations between 565 SNPs in microRNA genes, miRNA target genes, and miRNA biogenesis genes with colorectal cancer survival. Seven SNPs remained significantly associated with survival after multiple comparison adjustment: rs12140 (ADAMTS1, HRR=0.44, protective), and six SNPs associated with increased mortality risk including rs6598964 (LIN28A, HRR=2.26) which paradoxically decreased cancer risk (OR=0.77) but increased mortality. Five SNPs were also associated with altered mRNA expression levels.

Traits studied:Colorectal cancer riskColorectal cancer survivalmRNA expression
PubMedDOIMetascience Observatory

About ADAMTS1

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]

View all ADAMTS1 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…