title: FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia.
abstract: FAS, together with FASLG, triggers germ cell apoptosis, which occurs in various stages of mammalian testicular development. Single nucleotide polymorphisms (SNP) in the promoter regions of these two genes can influence their transcriptional activities and result in abnormal cell apoptosis, thus leading to spermatogenesis impairment. Therefore, it is reasonable to postulate that FAS and FASLG SNP may be associated with idiopathic azoospermia or severe oligozoospermia. To test this hypothesis, the distributions of FAS -1377G/A and -670A/G SNP and FASLG -844C/T SNP were studied in Han Chinese men. These SNP were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 203 infertile men with idiopathic azoospermia or severe oligozoospermia and in 246 proven fertile controls. Frequencies of FASLG -844CC, CT and TT genotypes among infertile men were significantly different from those among controls (P = 0.024). Men with FASLG -844TT genotype had an increased risk of idiopathic azoospermia or severe oligozoospermia compared with those with CC and CT genotype (odds ratio 2.72, 95% confidence interval 1.25-5.93). The results suggest that FASLG -844C/T SNP may be a genetic predisposing factor of idiopathic azoospermia or severe oligozoospermia among Han Chinese men.
authors.affiliation: Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Ningxia
authors.initials: N
authors.lastname: Lu
authors.forename: Yankai
authors.initials: Y
authors.lastname: Xia
authors.forename: Aihua
authors.initials: A
authors.lastname: Gu
authors.forename: Bin
authors.initials: B
authors.lastname: Wu
authors.forename: Jie
authors.initials: J
authors.lastname: Liang
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Zengjun
authors.initials: Z
authors.lastname: Wang
authors.forename: Jiantang
authors.initials: J
authors.lastname: Su
authors.forename: Xinru
authors.initials: X
authors.lastname: Wang
mesh_terms: D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D053222:Fas Ligand Protein / Q000235:genetics*; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055101:Semen Analysis; D019014:fas Receptor / Q000235:genetics*
chemical_list: C505661:FASLG protein, human; D053222:Fas Ligand Protein; D019014:fas Receptor