Study
Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001001258 | Other |
Study Description
To identify protein altering variants (PAVs) for glioma we analysed Illumina HumanExome BeadChip exome array data on 1,882 glioma cases and 8,079 controls from three independent European populations. In addition to single variant tests we incorporated information on the predicted functional consequences of PAVs and analysed sets of genes with a higher likelihood of having a role in glioma on the basis of the profile of somatic mutations documented by large-scale sequencing initiatives. Globally tThere was a strong relationship between effect size and SNPs predicted to be damaging (P=2.29x10-49); however, these variants which are most likely to impact on risk, are rare (MAF<5%). While no single variant showed an association which was statistically significant at the genomewide threshold a number of represented promising Notable associations - were seen with the BRCA2:c.9976A>T, p.(Lys3326Ter)BRCA2 p.Lys332X variant, which has been shown documented to influence breast and lung cancer risks (OR=2.3, P=4.00x10-4 for glioblastoma [GBM]) and IDH2:c.782G>A, p.(Arg261His)IDH2 ... (Show More)
Study Datasets 5 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00010000750 |
German glioma control germline genotypes using Illumina HumanExome-12v1_A array
|
Illumina HumanExome-12v1_A | 2391 |
EGAD00010000752 |
German glioma case germline genotypes using Illumina HumanExome-12v1_A array
|
Illumina HumanExome-12v1_A | 899 |
EGAD00010000754 |
UK glioma case germline genotypes using Illumina HumanExome-12v1_A array
|
Illumina HumanExome-12v1_A | 596 |
EGAD00010000756 |
French glioma control germline genotypes using Illumina HumanExome-12v1_A array
|
Illumina HumanExome-12v1_A | 699 |
EGAD00010000758 |
French glioma case germline genotypes using Illumina HumanExome-12v1_A array
|
Illumina HumanExome-12v1_A | 906 |
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