Polymorphisms in inhibin α gene promoter associated with male infertility.

Inhibins play important roles in normal gonadal function, including regulation of proliferation, differentiation, and steroidogenesis of Leydig and Sertoli cells via paracrine and autocrine processes. In adult males, circulating inhibin levels are correlated with fertility by regulating the number of Sertoli cells, total sperm count, and testicular volume. Given this important role, inhibin-α subunit (INHA) is a strong candidate gene in male fertility. However, limited data regarding the association of polymorphisms of INHA with male fertility are available. This study was based on the hypothesis that polymorphisms in the promoter of INHA are associated with male fertility. Han Chinese patients with non-normozoospermia (n=153) and normozoospermia (n=72) from Northern China were screened, and genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism after INHA promoter was amplified. Statistical analysis results revealed a significant difference in the allele frequency of INHA promoter between males with non-normozoospermia and normozoospermia. For c.-124G>A, males carrying c.-124GG genotype and c.-124GA genotype showed an increased risk of non-normozoospermic syndrome. For c.-16C>T polymorphism, no significant difference in allele frequency was observed between the two groups. Therefore, the haplotype AC possibly displayed a considerable reduced risk of non-normozoospermic syndrome.