• PMID: 24803422
• Gene Name: HORMAD2
• Condition: Non-obstructive azoospermia
• Association: Associated
• Mutation: rs8135823 G/T, rs11090601 C/A, rs4823073 A/G, rs718772 A/G, rs9620953 T/C, rs9625930 A/G and rs975704 A/G
• Population size: 729
• Population details: 729 (361 NOA cases, 368 normal controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: Hormad1, Hormad2
• Other associated phenotypes: Non-obstructive azoospermia

Genetic study of Hormad1 and Hormad2 with non-obstructive azoospermia patients in the male Chinese population

Song B, He X, Du W, Zhang Y, Ruan J, Zhou F, Zuo XB, Wu H, Zha X, Liu S, Xie XS, Ye L, Wei Z, Zhou P, Cao YX.

PURPOSE: To evaluate the association of the Hormad1 and Hormad2 single nucleotide polymorphisms (SNPs) variants with non-obstructive azoospermia (NOA) in the Chinese population. METHODS: In the present study, we assessed 10 single nucleotide polymorphisms (SNPs) of Hormad1 and Hormad2 using Sequenom iplex technology in 361 NOA cases and 368 normal controls from Chinese population. RESULTS: We observed no statistical differences in the distribution of allele frequencies. Further genetic model analysis and haplotype analysis also showed no significant difference between the two groups. However, we found that genotype distribution of rs718772 of Hormad2 was significantly different between the larger testis group (average testis volume ≥10 ml) and the small testis group (average testis volume <10 ml) in the NOA patients (P = 0.035). CONCLUSIONS: In conclusion, Hormad1 and Hormad2 might not be the susceptible genes for the non-obstructive azoospermia in our study population. However, rs718772 of Hormad2 variant might be associated with testis development in NOA patients. FAU - Song, Bing AU - Song B AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China. FAU - He, Xiaojin AU - He X FAU - Du, Weidong AU - Du W FAU - Zhang, Yan AU - Zhang Y FAU - Ruan, Jian AU - Ruan J FAU - Zhou, Fusheng AU - Zhou F FAU - Zuo, Xian-bo AU - Zuo XB FAU - Wu, Huan AU - Wu H FAU - Zha, Xing AU - Zha X FAU - Liu, Shuhua AU - Liu S FAU - Xie, Xu-shi AU - Xie XS FAU - Ye, Lei AU - Ye L FAU - Wei, Zhaolian AU - Wei Z FAU - Zhou, Ping AU - Zhou P