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Series GSE72606 Query DataSets for GSE72606
Status Public on Sep 10, 2015
Title High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism
Organism Homo sapiens
Experiment type Methylation profiling by high throughput sequencing
Summary Dietary folate is a major source of methyl groups required for DNA methylation, an epigenetic modification that is actively maintained and remodelled during spermatogenesis. While high dose folic acid supplementation (up to ten times the daily recommended dose) has been shown to improve sperm parameters in infertile men, the effects of supplementation on the sperm epigenome are unknown. To assess the impact of six months of high dose folic acid supplementation on the sperm epigenome, we studied 30 men with idiopathic infertility. Blood folate concentrations increased significantly after supplementation with no significant improvements in sperm parameters. Methylation levels of the differentially methylated regions of several imprinted loci (H19, DLK1/GTL2, MEST, SNRPN, PLAGL1, KCNQ1OT1) were normal both before and after supplementation. Reduced representation bisulfite sequencing (RRBS) revealed a significant global loss of methylation across different regions of the sperm genome. The most marked loss of DNA methylation was found in sperm from patients homozygous for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, a common polymorphism in a key enzyme required for folate metabolism. RRBS analysis also showed that most of the differentially methylated tiles were located in DNA repeats, low CpG density and intergenic regions. Ingenuity Pathway Analysis revealed that methylation of promoter regions was altered in several genes involved in cancer and neurobehavioral disorders including CBFA2T3, PTPN6, COL18A1, ALDH2, UBE4B, ERBB2, GABRB3, CNTNAP4 and NIPA1. Our data reveal alterations of the human sperm epigenome associated with high dose folic acid supplementation, effects that were exacerbated by a common polymorphism in MTHFR.
Overall design Reduced representation bisulfite sequencing of 28 human sperm samples before and after 6 month of high dose folic acid supplementation.
Contributor(s) Aarabi M, San Gabriel MC, Chan D, Behan NA, Caron M, Pastinen T, Bourque G, Macfarlane AJ, Zini A, Trasler J
Citation(s) 26307085
Submission date Sep 01, 2015
Last update date May 15, 2019
Contact name Mahmoud Aarabi
Organization name McGill University
Department Human Genetics
Street address 1001 Boulevard D├ęcarie
City Montreal
State/province Quebec
ZIP/Postal code H4A 3J1
Country Canada
Platforms (1)
GPL11154 Illumina HiSeq 2000 (Homo sapiens)
Samples (56)
GSM1865996 1_Before
GSM1865997 1_After
GSM1865998 2_Before
BioProject PRJNA294457
SRA SRP063076

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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE72606_10_methtiles.merged.normalized.txt.gz 4.1 Mb (ftp)(http) TXT
GSE72606_11_methtiles.merged.normalized.txt.gz 4.1 Mb (ftp)(http) TXT
GSE72606_12_methtiles.merged.normalized.txt.gz 5.1 Mb (ftp)(http) TXT
GSE72606_13_methtiles.merged.normalized.txt.gz 5.5 Mb (ftp)(http) TXT
GSE72606_14_methtiles.merged.normalized.txt.gz 4.8 Mb (ftp)(http) TXT
GSE72606_15_methtiles.merged.normalized.txt.gz 4.9 Mb (ftp)(http) TXT
GSE72606_16_methtiles.merged.normalized.txt.gz 4.4 Mb (ftp)(http) TXT
GSE72606_17_methtiles.merged.normalized.txt.gz 4.3 Mb (ftp)(http) TXT
GSE72606_18_methtiles.merged.normalized.txt.gz 3.5 Mb (ftp)(http) TXT
GSE72606_19_methtiles.merged.normalized.txt.gz 4.1 Mb (ftp)(http) TXT
GSE72606_1_methtiles.merged.normalized.txt.gz 5.4 Mb (ftp)(http) TXT
GSE72606_20_methtiles.merged.normalized.txt.gz 4.2 Mb (ftp)(http) TXT
GSE72606_21_methtiles.merged.normalized.txt.gz 2.9 Mb (ftp)(http) TXT
GSE72606_22_methtiles.merged.normalized.txt.gz 4.4 Mb (ftp)(http) TXT
GSE72606_23_methtiles.merged.normalized.txt.gz 4.3 Mb (ftp)(http) TXT
GSE72606_24_methtiles.merged.normalized.txt.gz 4.4 Mb (ftp)(http) TXT
GSE72606_25_methtiles.merged.normalized.txt.gz 4.5 Mb (ftp)(http) TXT
GSE72606_26_methtiles.merged.normalized.txt.gz 4.3 Mb (ftp)(http) TXT
GSE72606_27_methtiles.merged.normalized.txt.gz 3.4 Mb (ftp)(http) TXT
GSE72606_28_methtiles.merged.normalized.txt.gz 4.8 Mb (ftp)(http) TXT
GSE72606_29_methtiles.merged.normalized.txt.gz 4.6 Mb (ftp)(http) TXT
GSE72606_2_methtiles.merged.normalized.txt.gz 3.8 Mb (ftp)(http) TXT
GSE72606_30_methtiles.merged.normalized.txt.gz 4.1 Mb (ftp)(http) TXT
GSE72606_3_methtiles.merged.normalized.txt.gz 4.0 Mb (ftp)(http) TXT
GSE72606_4_methtiles.merged.normalized.txt.gz 4.2 Mb (ftp)(http) TXT
GSE72606_5_methtiles.merged.normalized.txt.gz 3.6 Mb (ftp)(http) TXT
GSE72606_6_methtiles.merged.normalized.txt.gz 4.3 Mb (ftp)(http) TXT
GSE72606_7_methtiles.merged.normalized.txt.gz 4.0 Mb (ftp)(http) TXT
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