Associations of Common Single Nucleotide Polymorphisms in miR-34b/c and miR-499 with Male Infertility Caused by Oligospermia or Azoospermia in the Chinese Population.

The present study was designed to survey the associations between polymorphisms of the common single nucleotide polymorphism (SNP) rs4938723 in the miR-34b/c gene, as well as the rs3746444 SNP in the miR-499 gene, and impairment of spermatogenesis leading to oligospermia and azoospermia in the Chinese population. Specimens were collected from four hundred seventeen infertile men with oligospermia or azoospermia and 234 controls for this investigation. Polymerase chain reaction and restriction fragment length polymorphism analyses was used for genotyping the rs4938723 and rs3746444 SNPs.

A predictive model for high-quality blastocyst based on blastomere number, fragmentation, and symmetry.

Purpose: The aim of this study was to create a predictive model for high-quality blastocyst progression based on the traditional morphology parameters of embryos.

Methods: A total of 1564 embryos from 234 women underwent conventional in vitro fertilization and were involved in the present study. High-quality blastocysts were defined as having a grade of at least 3BB, and all embryos were divided based on the development of high-quality blastocysts (group HQ) or the failure to develop high-quality blastocysts (group NHQ).

Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population.

Objective: The aim of this study was to explore the association between the SNP rs4045481 in RNF212 gene, rs1050482 and rs11531577 in STAG3 gene as well as rs2288846 in RFX2 gene and male infertility with azoospermia in Chinese population.

Study Design: Two hundreds and twenty infertile patients with azoospermia and 248 fertile men were recruited in the present study. The four SNPs investigated were genotyped using polymerase chain reaction and restriction fragment length polymorphism assay.

The polymorphism G4C14-to-A4T14 in p73 gene may affect the susceptibility to male infertility with severe spermatogenesis impairment in Chinese population.

Objective: The aim of this study was to explore the association between the polymorphism G4C14-to-A4T14 in the p73 gene and male infertility with severe spermatogenesis impairment in Chinese population.

Study Design: Three hundreds and one infertile patients with severe spermatogenesis impairment (including azoospermia and severe oligospermia) and 252 fertile men were recruited in this study. The polymorphism G4C14-to-A4T14 in the p73 gene was genotyped using polymerase chain reaction and restriction fragment length polymorphism assay.

Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with oligospermia.

Purpose: This study aims to explore possible associations between polymorphisms of common SNP rs1136410 and rS1805405 in PARP1 gene and male infertility with spermatogenesis impairment.

Methods: The polymorphic distributions of SNP rs1136410 and rS1805405 were investigated by polymerase chain reaction and restriction fragment length polymorphism analysis in a Chinese cohort including 371 infertile patients with idiopathic azoospermia or oligospermia and 231 controls.

Results: Significant differences in the frequencies of allele and genotype of SNP rs1136410 were observed between patients with oligospermia and controls.

Polymorphism in DNMT1 may modify the susceptibility to oligospermia.

As an important methyltransferase, DNMT1 plays a key role in DNA methylation that is essential for normal spermatogenesis, which suggests that it may be involved in male infertility with spermatogenesis impairment. To explore the relationship between DNMT1 and spermatogenesis impairment, polymorphic distributions of single-nucleotide polymorphisms (SNP) rs16999593, rs2228612 and rs2228611 in DNMT1 were investigated in 342 infertile patients with idiopathic azoospermia or oligospermia and 232 fertile controls in a Chinese population. As a result, no significant differences in allele and genotype frequencies of the three SNP between total patients and controls were observed.

SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population.

KIT/KITLG signaling system is crucial for spermatogenesis, which suggests that KIT and KITLG genes may be involved in spermatogenesis impairment and male infertility. To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. As a result, the significant differences in polymorphism distributions of SNP rs3819392 in KIT gene and rs4474514 in KITLG gene were observed between the patients with oligospermia and controls.

Genetic variants of eNOS gene may modify the susceptibility to idiopathic male infertility.

In testis, eNOS is responsible for synthesis of nitric oxide (NO) which is an essential gas message regulator in spermatogenesis, suggesting that eNOS gene plays a role in normal spermatogenesis and the genetic variants of eNOS gene may be potential genetic risk factors of spermatogenesis impairment. In this study, the polymorphic distributions of three common polymorphism loci including T-786C, 4A4B and G894T in eNOS gene were investigated in 355 Chinese infertile patients with azoospermia or oligozoospermia and 246 healthy fertile men and a meta-analysis was carried in order to explore the possible relationship between the three loci of eNOS gene and male infertility with spermatogenesis impairment. As a result, allele -786C of T-786C (11.

Association of GSTM1 and GSTT1 genes with the susceptibility to male infertility: result from a meta-analysis.

The deletion polymorphisms of the glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1) genes were considered as candidates for genetic susceptibility factors of male infertility. Previous studies concerning the relationship between the null genotype of the two genes and male infertility have been reported in recent years. However, the results remain elusive.

Null genotype of GSTM1 and GSTT1 may contribute to susceptibility to male infertility with impaired spermatogenesis in Chinese population.

Glutathione-S-transferases (GSTs) play a protective role during spermatogenesis and GST genes may be involved in impaired spermatogenesis. A case-control study was performed to explore the association of genes GSTM1 and GSTT1, two members of GST gene family, with spermatogenesis impairment. The deletion polymorphism distribution of genes GSTM1 and GSTT1 was investigated in 353 patients with azoospermia or oligospermia and 201 fertile controls in Chinese population using multiplex PCR.

Relationship of SNP of H2BFWT gene to male infertility in a Chinese population with idiopathic spermatogenesis impairment.

The H2B family, member W, testis specific (H2BFWT) gene encodes a testis specific histone that plays a crucial role in reorganization and remodeling of chromatin and epigenetic regulation during spermatogenesis, suggesting that the gene may be involved in spermatogenesis impairment. To test the speculation, the allele and haplotype frequencies of two single-nucleotide polymorphism loci in this gene, -9C>T and 368A>G, were investigated in 409 infertile patients with idiopathic azoospermia or oligozoospermia and 209 fertile men as controls using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. As the results, the frequencies of -9T (52.

[Single nucleotide polymorphisms of the genes related with spermatogenesis impairment].

Male infertility is a complex disease affecting the reproduction of childbearing couples, for which genetic polymorphism of spermatogenesis genes is an important genetic pathogenic factor. Lots of genes closely related with spermatogenesis have been successfully identified through the gene knockout technology. Spermatogenesis impairment related genes include those associated with expression enzymes, receptors, cell apoptosis, transcription regulation, and so on.

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

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.

[Association of single nucleotide polymorphisms of PATZ1 gene with azoospermia].

Objective: To study the relationship between the polymorphisms of single nucleotide polymorphisms(SNPs) in rs2240424, rs2057951, rs2240427 and rs714909 loci in the PATZ1 gene and azoospermia.

Methods: The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.

[Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI].

Deletion of DAZ gene copies is related to spermatogenesis impairment. To investigate the distribution of DAZ gene copy deletions among Chinese men, we analyzed DAZ gene deletions by multiplex polymerase chain reaction (multi-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 128 infertile patients with severe oligozoospermia selected as semen donors for intracytoplasmic sperm injection (ICSI) and 287 normospermic men. Three patterns of DAZ gene deletions, namely DAZ1/DAZ2 deletion, DAZ3/DAZ4 deletion and complete deletion of all 4 DAZ copies, were found in the present study.

Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia.

Aim: To analyze the distribution of the single nucleotide polymorphism (SNP) C677T in the methylenetetrahydrofolate reductase (MTHFR) gene in 355 infertile Chinese patients with idiopathic azoospermia or severe oligozoospermia and 252 fertile Chinese men as controls to explore the possible association of the SNP and male infertility.

Methods: Using the polymerase chain reaction (PCR)-restriction fragment length polymorphism technique, the allele and genotype distribution of SNP C677T in the MTHFR gene were investigated in both patients and controls.

Results: The frequencies of allele T (40.

Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia.

Chromosomal abnormality and Y chromosome microdeletion are regarded as two frequent genetic causes associated with spermatogenic failure in Caucasian population. To investigate the distribution of the two genetic defects in Chinese patients with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 358 idiopathic infertile men, including 256 patients with azoospermia and 102 patients with severe oligozoospermia, and screening of AZF region microdeletion of Y chromosome by multiplex PCR was performed in those patients without detectable chromosomal abnormality and 100 fertile controls. Of 358 patients, 39(10.

[Synaptonemal complex--an essential role in etiology of idiopathic azoospermia].

Synaptonemal complex (SC) which is a meiosis-specific supramolecular proteinaceous structure plays a crucial role in condensation, pairing, recombination and disjunction of homologous chromosomes at meiosis I. In recent years,a series of new developments on SC has been made, including new findings in both component and function of SC. Abnormalities of SC resulting from genetic mutation can directly induce arrest of spermatogenesis in rat model.

DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men.

Aim: To explore the possible effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c (AZFc) region was analyzed in 346 normozoospermic men.

Methods: Three DAZ single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined with polymerase chain reaction (PCR)-restriction fragment length polymorphism and routine PCR.

Results: Five (1.

[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia].

Objective: To investigate 2 polymorphism sites in exon 3 and intron 2 of FKBP6 in Chinese population, while screening the gene mutations and polymorphisms in exons 3, 4 of FKBP6, and the association of these polymorphisms with azoospermia.

Methods: Possible variations of exons 3, 4 and genotypes and frequencies of 2 polymorphic loci were examined by denaturing high-performance liquid chromatography(DHPLC) and PCR-restriction fragment length polymorphism(PCR-RFLP) technique in 177 azoospermia patients and 231 control individuals.

Results: The observed allele frequencies conformed well to Hardy-Weinberg equilibrium.