rs704010

This variant is located in the ZMIZ1 gene.

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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 1.08
p 3.0e-38
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 1.07
p 2.0e-35
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 1.08
p 3.0e-23
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 1.08
p 7.0e-22
N 22,627
Large GWAS
European
Turnbull C et al. “Genome-wide association study identifies five new breast cancer susceptibility loci.” Nature Genetics 42(6):504-7 (2010)
Allele A
OR 1.07
p 4.0e-9
N 8,556
Large GWAS
European
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Research that mentions this SNP (3)

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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory
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A genome-wide association study of breast cancer in women of African ancestry
AssociationN=21,921Chen F. et al.(2013)· Human Genetics

Genome-wide association study of breast cancer in 3,153 African American cases and 2,831 controls, with replication in 3,607 cases and 11,330 controls of African ancestry. Two novel susceptibility loci reached statistical significance: rs4322600 at 14q31 (OR=1.18, p=4.3×10⁻⁶) and rs10510333 at 3p26 (OR=1.15, p=1.5×10⁻⁵). These variants represent novel risk loci not previously identified in other populations.

Traits studied:Breast cancer
PubMedDOIMetascience Observatory
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11q13 is a susceptibility locus for hormone receptor positive breast cancer
AssociationN=98,380Lambrechts et al.(2012)· Human Mutation

Large pooled case-control study of 49,608 breast cancer cases and 48,772 controls from 39 studies in the Breast Cancer Association Consortium independently confirmed four SNPs as breast cancer susceptibility loci. SNP rs614367 (CCND1 region) showed the strongest association (OR 1.21, P < 1×10⁻⁸) overall and OR 1.29 for hormone receptor-positive breast cancer. SNPs rs1011970 (CDKN2A/2B, OR 1.09), rs10995190 (ZNF365, OR 0.92), and rs704010 (ZMIZ1) were also significantly associated with breast cancer risk in women of European descent, while rs2380205 (10p15) showed limited evidence.

Traits studied:Breast cancerDuctal breast cancerER-negative breast cancerER-positive breast cancerHormone receptor-positive breast cancerLobular breast cancerPR-negative breast cancerPR-positive breast cancer
PubMedDOIMetascience Observatory

About ZMIZ1

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]

View all ZMIZ1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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