rs6828523

This is a upstream gene variant variant in the ADAM29 gene.

▶

GWAS Catalog Trait Associations (1)

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

breast carcinoma

Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele A
OR 0.91
p 5.0e-27
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 1.10
p 2.0e-25
N 139,274
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele A
OR 1.11
p 1.0e-15
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele A
OR 1.11
p 4.0e-16
N 22,627
Large GWAS
European
▶

Research that mentions this SNP (2)

▶
Association between breast cancer genetic susceptibility variants and terminal duct lobular unit involution of the breast
AssociationN=872Clara Bodelon et al.(2017)· International Journal of Cancer

This pooled analysis of 872 women from two studies (Susan G. Komen Tissue Bank and BREAST Stamp Project) investigated the association between 62 established breast cancer susceptibility SNPs and terminal duct lobular unit (TDLU) involution, a breast cancer risk factor. Six SNPs (9.7%) showed nominal associations with at least one TDLU measure: rs616488 (PEX14), rs11242675 (FOXQ1), and rs6001930 (MKL1) with higher TDLU count (P=0.047, 0.045, 0.031); rs1353747 (PDE4D) and rs6472903 (8q21.11) with higher acini count per TDLU (P=0.007, 0.027); and rs1353747 (PDE4D) and rs204247 (RANBP9) with higher epithelial content (P=0.024, 0.017). Overall, breast cancer susceptibility SNPs showed limited enrichment for associations with TDLU involution.

Traits studied:Breast cancerMammographic densityTerminal duct lobular unit (TDLU) involution
PubMedDOIMetascience Observatory
▶
Investigation of gene‐environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
AssociationN=56,752Rudolph A. et al.(2015)· International Journal of Cancer

This study investigated gene-environment interactions between 47 newly identified breast cancer susceptibility loci and 13 environmental risk factors using data from 22 BCAC studies (26,633 cases, 30,119 controls). Six G×E interactions with p<1.1×10⁻³ were identified, including rs6828523 (ADAM29) with adult height (ER-negative OR_int=1.14, p=1.9×10⁻⁴), rs4808801 (ELL) with pregnancies (OR_int=0.96, p=6.1×10⁻⁴), and rs11242675 (FOXQ1) with smoking (OR_int=1.13, p=3.4×10⁻⁴). Overall, recently identified breast cancer susceptibility loci were not strongly modified by established environmental risk factors.

Traits studied:Breast cancerBreast cancer (estrogen receptor negative)Breast cancer (estrogen receptor positive)
PubMedDOIMetascience Observatory

About ADAM29

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

View all ADAM29 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…