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Hum. Reprod. Advance Access originally published online on June 20, 2009
Human Reproduction 2009 24(10):2439-2446; doi:10.1093/humrep/dep223
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© The Author 2009. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality

Guixiang Ji1,{dagger}, Aihua Gu1,{dagger}, Fan Hu1, Shoulin Wang1, Jie Liang2, Yankai Xia1, Chuncheng Lu1, Ling Song1, Guangbo Fu1 and Xinru Wang1,3

1 Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China 2 Department of Toxicology, Jiangsu Centers for Disease Prevention and Control, Nanjing 210009, China

3 Correspondence address. Tel: +86-25-86862939; Fax: +86-25-86662863; E-mail: xrwang{at}njmu.edu.cn

BACKGROUND: The FAS/FASLG system has been proposed to play a key role in germ cell apoptosis. To elucidate the role of the genetic variants of cell death pathway genes in male infertility, we genotyped the polymorphisms of FAS, FASLG and caspase-8 (CASP8) genes and evaluated their effects on sperm apoptosis and semen quality in infertile men.

METHODS: The genotypes of FAS, FASLG and CASP8 were determined in 620 infertile men. Sperm apoptosis rates were measured by terminal deoxynucleotidyl transferase (Tdt)-mediated dUTP nick end labelling (TUNEL) assay, and the semen quality analysis was performed using computer assisted sperm analysis.

RESULTS: We found that polymorphisms of FAS-670A/G (rs1800682: A>G) and CASP8-652 6N ins/del (rs3834129: –/CTTACT) were associated with sperm apoptosis and semen quality. Individuals with FAS-670GG showed low apoptosis rate and decreased sperm concentration, compared with the FAS-670AA genotype. Similarly, in comparison with the CASP8-652 6N ins/ins genotype, the CASP8-652 6N (ins/del+del/del) genotypes also showed significantly decreased sperm apoptosis rate and poor sperm motility. Other polymorphisms investigated did not appear to affect sperm apoptosis and semen quality.

CONCLUSIONS: This study showed for the first time that functional variants of FAS and CASP8 might contribute to the dysfunctional apoptotic mechanism in germ cells, which could result in poor semen quality of ejaculated sperm.

Key words: CASP8/FAS/FASLG/polymorphisms/semen quality

{dagger} The first two authors have contributed equally to this study and they should be regarded as joint first authors.

Submitted on February 2, 2009; resubmitted on May 21, 2009; accepted on May 27, 2009.


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