• PMID: 16257105
• Gene Name: BRCA2
• Condition: Idiopathic male infertility with azoospermia or severe oligozoospermia
• Association: The results of this study suggested that the polymorphism N372H in BRCA2 gene may be associated with idiopathic male infertilitywith azoospermia or severe oligozoospermia.
• Mutation: N372H in BRCA2
• Population size: 490
• Population details: 490 (240 infertile patients with idiopathic azoospermia or severe oligozoospermia, 250 fathered controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility with azoospermia or severe oligozoospermia

The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia

Zhoucun A, Zhang S, Yang Y, Ma Y, Zhang W, Lin L.

OBJECTIVE: To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia. STUDY DESIGN: The study included 240 infertile patients with idiopathic azoospermia or severe oligozoospermia and 250 fathered controls. The allele and genotype frequencies of the polymorphism N372H in BRCA2 gene were investigated in both patients and controls using denaturing high performance liquid chromatography analysis (DHPLC). RESULTS: The frequency of allele H of the polymorphism N372H in patients was significantly higher than that of the controls (23.5% versus 17.6%, OR = 1.49, 95% CI 1.06-1.97, P = 0.02) and the subjects bearing rare allele H (NH + HH) significantly increased in patients compared with controls (41.7% versus 32.4%, 95% CI 1.03-2.15, P = 0.03). CONCLUSION: The results of this study suggested that the polymorphism N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. FAU - Zhoucun, A AU - Zhoucun A AD - Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, National Key Laboratory of Biotherapy, Chengdu 610041, PR China. FAU - Zhang, Sizhong AU - Zhang S FAU - Yang, Yuan AU - Yang Y FAU - Ma, Yongxin AU - Ma Y FAU - Zhang, Wei AU - Zhang W