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


METHODS
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).


CONCLUSIONS
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.
Zhoucun
A
A
Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, National Key Laboratory of Biotherapy, Chengdu 610041, PR China.
Zhang
Sizhong
S
Yang
Yuan
Y
Ma
Yongxin
Y
Zhang
Wei
W
Lin
Li
L
D002851:Chromatography, High Pressure Liquid; D005787:Gene Frequency; D024522:Genes, BRCA2; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide