Effects Of Y Chromosome Microdeletions And Genetic Variants Of TEX15 Gene On Spermatogenic Failure

Objective Azoospermia factor (AZF) microdeletion in Y chromosome long arm (Yq) is one of the important factors leading to male infertility. AZF microdeletion on the genetic risk of spermatogenic failure, the relationship between genotype and phenotype remains to be elucidated. Y chromosome in different genetic backgrounds, AZF deletion shows different frequency, and spermatogenesis differ because of race. In this study, Y chromosome microdeletion are studied among a group of people to investigate different deletion types in the frequency of spermatogenic disorders and whether relate to testicular size, sex hormone levels in male infertility patients of Chinese Han nationality.Methods 209 non-obstructive azoospermia (NOA) and 123 severe oligozoospermia, as experimental group, and 377 normzoospermia men who farhered at list one child as controls. According to the guidelines of the European Molecular Genetics Quality Network (EMQN) and the European Academy of Andrology (EAA), AZFa, b, c microdeletion region were screened after modifying primer of sequence tag points (STS) and PCR reaction conditions.Results 23 cases of Y chromosome microdeletions were found in 332 cases of male infertility patients, the rate was 6.93%. Among them, 10 NOA patients, 13 patients with severe oligozoospermia; Among 23 cases of microdeletion patients, 11cases with AZFc deletion, 1 cases with AZFb deletion and 10 cases with AZFa deletion, 1 case with AZFa + AZFc deletion; No Y chromosome microdeletion in 377 normospermic men who had fathered one or more healthy children.Conclusion AZF microdeletions in Yq are one of the important reasons of severely spermatogenic failure in Chinese Han population,so it is necessary to screen Y chromosome microdeletions for non-obstructive azoospermia and severe oligozoospermia patients.Objective SNPs in the TEX15 gene whether confer susceptibility of spermatogenic disorders in Anhui region, investigating the frequencies of allele,genetopy and haplotype correlation with clinical features of spermatogenic disorders to explore the genetic pathogenesis of male infertility in Anhui region. Methods Excluding patients with Y chromosome microdeletions, 199 NOA patients and 110 severe oligozoospermia patients as cases, 377 normospermic men who had fathered one or more healthy children as controls. We use Sequenom ipex Massarray technology to genotype 9 SNPs in TEX15 gene and use statistical software for analysis of data.Results The frequencies of genotypes,allele and haplotypes of 3 SNPs in TEX15 gene showed differences between congenital male infertility patients and controls. Compared with controls, in the dominant mode, rs323346 CT / CC and the rs323347 GG / GA genotypes significantly increased severe oligozoospermia risk (P=0.021, OR= 1.837, 95%CI=1.094-3.084; P=0.024, OR=1.814, 95% CI=1.08-3.046); rs2343694 GA / AA genotype significantly increased non-obstructive azoospermia risk (P=0.042, OR= 1.914,95%CI=1.025-3.575). The haplotype analysis of the three polymorphic showed that haplotype GTA protect spermatogenesis (P=0.037, OR=0.685, 95%CI= 0.479-0.980), and reduce the risk of severe oligozoospermia (P=0.044, OR=0.616, 95% CI=0.383-0.990), while the haplotype ACG increase the risk of spermatogenetic failure (P =0.050, OR=1.701, 95% CI=0.994-2.911).Conclusion The genetic polymorphism of rs323346, rs323347 and rs2343694 in TEX15 gene is associated with the risk of spermatogenetic failure, rs323346 and rs323347 significantly increased the risk of severe oligozoospermia patients, rs2343694 significantly increased the risk of non-obstructive azoospermia patients, these polymorphisms may be genetic factors for spermatogenesis disorders in Chinese Han population, but it will need more samples and functional studies to further confirm this.