• PMID: 22116073
• Gene Name: DNMT3L
• Condition: Spermatogenetic impairment and male infertility
• Association: These results indicated that SNP rs2070565, as well as haplotypes AAA and GAA, may be associated with maleinfertility and suggest that DNMT3L may contribute to azoospermia susceptibility in humans.
• Mutation: rs2070565, rs2276248, rs7354779
• Population size: 482
• Population details: 482 (233 infertile patients with azoospermia and 249 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Infertility with azoospermia

Association between single-nucleotide polymorphisms of DNMT3L and infertility with azoospermia in Chinese men

Huang JX, Scott MB, Pu XY, Zhou-Cun A.

The gene for DNA methyltransferase 3-like protein (DNMT3L) is essential for normal spermatogenesis and may be involved with spermatogenetic impairment and male infertility. To explore the possible association between the DNMT3L gene and male infertility, this study investigated allele, genotype and haplotype frequencies of three single nucleotide polymorphism (SNP) loci, rs2070565, rs2276248 and rs7354779, of DNMT3L in 233 infertile patients with azoospermia and 249 fertile controls from a population of Chinese men using polymerase chain reaction/restriction fragment length polymorphism. Results showed that the frequencies of allele A (20.6% versus 14.9%; P = 0.022) and the allele A carrier (GA + AA; 37.8% versus 28.1%; P = 0.027) in azoospermic patients were significantly higher than those in controls at the rs2070565 locus. The haplotype AAA frequency was significantly higher (18.1% versus 12.4%; P = 0.02) while the haplotype GAA frequency was significantly lower (53.2% versus 62.1%; P = 0.007) in infertile patients compared with fertile controls. These results indicated that SNP rs2070565, as well as haplotypes AAA and GAA, may be associated with male infertility and suggest that DNMT3L may contribute to azoospermia susceptibility in humans. CI - Copyright © 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. FAU - Huang, Jian-Xi AU - Huang JX AD - Department of Biology, Dali College, Dali, Yunnan 671003, China. FAU - Scott, Matthew B AU - Scott MB FAU - Pu, Xiao-Ying AU - Pu XY