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.

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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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