Study On Association Between Single Nucleotide Polymorphisms Of PATZ1 Gene As Well As DNMT3L Gene And Azoospermia

Male infertility is a complex disease which involves a lot of genetic factors. The obstacle of spermatogenesis is the main reason of male infertility, about 59%-90% patients are diagnosed as azoospermia or severe oligazoospermia in Primary male infertility patients. Hence, those genes which closely related to spermatogenesis consider as the main candidate genes for primary male infertility. Human spermatogenesis is a complicated progress, it involves a series of cell activities, such as cell proliferation, meiosis and cell differentiation. It is estimated that there are at least 4000 genes participate in spermatogenesis. With the development of the research, lots of genes have been identified to closely relate with spermatogenesis in recent years. But whether all these genes are connected with primary male infertility is still not clear at present and needs further researches.POZ and AT hook containing zinc finger 1 (PATZ1) gene and DNA methylation 3-like protein (DNMT3L) gene play an important role in spermatogenesis. A series of research on these two genes in recent years suggests that they may be related to the pathogenesis of male infertility. At present, there is no report about the relationship between PATZ1 gene as well as DNA methylation 3-like protein (DNMT3L) gene and male infertility. Thus, we investigated the allele and genotype frequencies of some SNPs including (rs2240424; rs714909; rs2057951 and rs2240427) in PATZ1 gene as well as(rs2070565,rs2276248 and rs7354779)DNMT3L gene in normal men and patients with azppspermia using polymerase chain reaction, restriction fragment length polymorphism analysis and DNA direct sequencing in order to explore the relationship between these two genes and azoospermiaAs the results, the frequencies of allele C (35.0% vs.27.6%, P=0.031) and individuals with allele C (TC+CC) (57.8% vs.46.3%, P=0.027) at the rs2057951 locus in PATZ1 gene azoospermic patients were significantly higher than that in normal men; There was a significant difference in distribution of haplotypes of the four SNPs between the two groups (P=0.01). Hapoltype ACAC(11.1% vs.6.6%, P=0.029)as well as ACGC (11.2% vs.5.2%, P=0.003) increased significantly azoospermic patients compared with controls.Allele A (20.4% vs.14.9%. p=0.027) and allele A carrier (GA+AA) (37.3% vs.28.1%, p=0.033) in patients were significantly higher than those in controls at rs2070565 locus in DNMT3L gene; Haplopyte AAA (18.1% vs.12.4, . p=0.02) significantly increased while the haplotype GAA (53.2% vs.62.1%, p=0.007) significantly decreased in patients compared with controls.In summary, the results of this study indicated that some SNPs and haplotypes of PATZ1 gene and DNMT3L gene may increase the susceptibility to azoospermia, suggesting that these two genes may play a role in azoospermia.