Genetics Genetics Research
CHROMOSOME 2 IGFBP-AS1 2q35 GENE VIEW IGFBP-AS1 · 2q35 2q34 2q36 rs4442975 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs4442975 G / A · IGFBP-AS1 · 2q35 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs4442975

Gene: IGFBP-AS1 — IGFBP5 Antisense RNA 1 Chr 2:217056046 2q35 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.508264T 0.491736GG 0.266078GT/TG 0.484372TT 0.24955pop=295,244 ↬
African G 0.6542T 0.3458GG 0.427103GT/TG 0.454185TT 0.118712pop=38,328
African American G 0.65317T 0.34683GG 0.425122GT/TG 0.456091TT 0.118787pop=36,940
African Others G 0.6816T 0.3184GG 0.479827GT/TG 0.403458TT 0.116715pop=1,388
Asian G 0.1261T 0.8739GG 0.016347GT/TG 0.21956TT 0.764092pop=7,096
East Asian G 0.1204T 0.8796GG 0.013532GT/TG 0.213802TT 0.772666pop=5,912
European G 0.504902T 0.495098GG 0.25499GT/TG 0.499824TT 0.245186pop=226,840
Latin American 1 G 0.5196T 0.4804GG 0.261462GT/TG 0.516316TT 0.222222pop=4,842
Latin American 2 G 0.31622T 0.68378GG 0.104988GT/TG 0.422467TT 0.472544pop=10,344
Other G 0.4795T 0.5205GG 0.237964GT/TG 0.483081TT 0.278955pop=7,270
Other Asian G 0.1546T 0.8454GG 0.030405GT/TG 0.248311TT 0.721284pop=1,184
South Asian G 0.55T 0.45GG 0.282443GT/TG 0.534351TT 0.183206pop=524

Studies6

Unread Studies6 ▼
1

Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium.

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PID
Previous gene-environment interaction studies of breast cancer risk have provided sparse evidence of interactions. Using the largest available dataset to date, we performed a comprehensive assessment of potential effect modification of 205 common susceptibility variants by 13 established breast cancer risk factors, including replication of previously reported interactions. Analyses were performed using 28&#xa0;176 cases and 32&#xa0;209 controls genotyped with iCOGS array and 44&#xa0;109 cases an…

2020 · Kapoor PM, Lindström S, Behrens S et al.

2

Functional Variant rs4442975 Modulating FOXA1 Binding Affinity Can Influence Bone Marrow Suppression during Neoadjuvant Chemotherapy for Luminal A Type Breast Cancer.

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PID
The expression of the transcription factor FOXA1 is associated with the prognosis of estrogen receptor (ER)-positive breast cancer, and the genetic variant rs4442975 can affect FOXA1 function. Therefore, we investigated the association between rs4442975 and the efficacy of neoadjuvant chemotherapy for luminal A type breast cancer and evaluated its toxic side effects in a Chinese population. One hundred seventy-five patients with luminal A type breast cancer receiving neoadjuvant chemotherapy wit…

2019 · Wang X, Feng Z, Li J et al.

3

A functional variant rs4442975 modulating FOXA1-binding affinity does not influence the risk or progression of breast cancer in Chinese Han population.

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PID
The DNA-binding protein FOXA1 has been shown to regulate nearly all estrogen receptor-chromatin interactions, thereby influencing target gene expression levels in breast cancer (BC) cells. Recently, the rs4442975 T-allele, which disrupts the recruitment of FOXA1 and interacts with the IGFBP5 promoter, was associated to BC susceptibility in a European population. We conducted a hospital-based case-control study that included 1227 cases and 1285 controls to explore the potential association betwee…

2016 · Zhang Y, Li Y, Jiang S et al.

4

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression.

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PID
Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify functional susceptibility loci for breast cancer, we interrogated the 2q35 gene desert for chromatin architecture and functional variation correlated with gene expression. We report a novel intergenic breast cancer risk locus containing an enhancer copy number variation (enC…

2016 · Wyszynski A, Hong CC, Lam K et al.

5

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

Study ↗ PDF ↗
PID
GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against &gt;100:1. The best functional candidate, rs4442975, is associat…

2014 · Ghoussaini M, Edwards SL, Michailidou K et al.

6

Unbiased analysis of potential targets of breast cancer susceptibility loci by Capture Hi-C.

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PID
Genome-wide association studies have identified more than 70 common variants that are associated with breast cancer risk. Most of these variants map to non-protein-coding regions and several map to gene deserts, regions of several hundred kilobases lacking protein-coding genes. We hypothesized that gene deserts harbor long-range regulatory elements that can physically interact with target genes to influence their expression. To test this, we developed Capture Hi-C (CHi-C), which, by incorporatin…

2014 · Dryden NH, Broome LR, Dudbridge F et al.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0 ▼

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