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Series GSE51245 Query DataSets for GSE51245
Status Public on Feb 16, 2014
Title Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2
Organism Homo sapiens
Experiment type Methylation profiling by array
Summary Array-based DNA methylation profiling in peripheral blood leukocytes of 30 infertile men with impaired spermatogenesis as compared to 10 fertile men using the Illumina Infinium HumanMethylation 450k Bead Chip reveald 471 CpG sites (287 genes) to be differentially methylated between both groups. These CpG loci were significantly enriched for the gene ontology functions MHC class II receptor activity and piRNA binding. The latter was associated with two methylation-sensitive SNPs in the genes PIWIL1 and PIWIL2, respectivly, which showed significant allele distribution skewing in the infertile cohort. 445/471 differentially methylated CpGs were associated with SNPs, but 26 (15 genes) were not genomically templated and included the ENO1, MTA2, BRSK2 and LBX2 genes previously associated with fertility and spermatogenesis. The study identifies surrogate DNA methylation markers for idiopathic infertility in peripheral blood and suggests allele-specific DNA methylation differences at regulatory sites of genes involved in piRNA regulation to be associated with disturbed spermatogenesis.
Overall design Bisulfite converted DNA of peripheral blood leukocytes from 30 infertile men and 10 fertile men as controls were hybridized to the Illumina Infinium HumanMethylation 450k Bead Chip.
Contributor(s) Friemel C, Ammerpohl O, Gutwein J, Schmutzler A, Caliebe A, Kautza M, von Otte S, Siebert R, Bens S
Citation(s) 24524831
Submission date Sep 27, 2013
Last update date Mar 22, 2019
Contact name Susanne Bens
Organization name Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein
Department Institute of Human Genetics
Street address Arnold-Heller-Str.3 (Haus 10)
City Kiel
ZIP/Postal code D-24105
Country Germany
Platforms (1)
GPL13534 Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482)
Samples (40)
GSM1240959 genomic DNA from patient 1
GSM1240960 genomic DNA from patient 7
GSM1240961 genomic DNA from patient 8
BioProject PRJNA221869

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE51245_RAW.tar 183.1 Mb (http)(custom) TAR
GSE51245_average_beta.txt.gz 80.5 Mb (ftp)(http) TXT
GSE51245_signal_intensities.txt.gz 164.9 Mb (ftp)(http) TXT
Processed data included within Sample table
Processed data are available on Series record

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