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The single nucleotide polymorphism of DMRT1 is associated with oligospermia

Ruo-Peng Zhang, Pei He, Bei-Bei Chai, Zheng-Wei Li, Yi-Juan Xu, Shu-Hua Zhao, Wei Xiong

Male infertility is a common human reproductive defect that can be resulted from spermatogenesis impairment. DMRT1 encodes a male-specific transcriptional regulator and is important for human spermatogenesis. This study was designed to explore the relationship between the Single Nucleotide Polymorphism (SNP) of DMRT1 and oligospermia. Two SNPs namely rs3739583 and rs4742608, were screened in 212 infertile men with oligospermia and 217 normal controls by using a PCR-RFLP assay. The genotyping data showed that the frequencies of allele A (64.9% vs. 57.8%, p=0.041, OR=1.346, 95% CI 1.021~1.773) and genotype AA (39.1% vs. 29.0%, p=0.027, OR=1.604, 95% CI 1.073~2.398) of SNP rs4742608 were significantly higher in the infertile patients with oligospermia compared with the normal controls. Our data suggest that the SNP rs4742608 in DMRT1 is associated with oligospermia and may affect the genetic susceptibility to human oligospermia.