中国男性人群中Hormad1和Hormad2与非梗阻性无精子症患者的遗传学研究。
Genetic study of Hormad1 and Hormad2 with non-obstructive azoospermia patients in the male Chinese population.
作者信息
Song Bing, He Xiaojin, Du Weidong, Zhang Yan, Ruan Jian, Zhou Fusheng, Zuo Xian-bo, Wu Huan, Zha Xing, Liu Shuhua, Xie Xu-shi, Ye Lei, Wei Zhaolian, Zhou Ping, Cao Yun-xia
机构信息
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
出版信息
J Assist Reprod Genet. 2014 Jul;31(7):873-9. doi: 10.1007/s10815-014-0244-x. Epub 2014 May 7.
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.
目的
评估在中国人群中，Hormad1和Hormad2单核苷酸多态性（SNP）变体与非梗阻性无精子症（NOA）之间的关联。
方法
在本研究中，我们使用Sequenom iplex技术，对来自中国人群的361例NOA患者和368例正常对照进行了Hormad1和Hormad2的10个单核苷酸多态性（SNP）评估。
结果
我们观察到等位基因频率分布无统计学差异。进一步的遗传模型分析和单倍型分析也显示两组之间无显著差异。然而，我们发现，在NOA患者中，较大睾丸组（平均睾丸体积≥10 ml）和较小睾丸组（平均睾丸体积<10 ml）之间Hormad2的rs718772基因型分布存在显著差异（P = 0.035）。
结论
总之，在我们的研究人群中，Hormad1和Hormad2可能不是非梗阻性无精子症的易感基因。然而，Hormad2的rs718772变体可能与NOA患者的睾丸发育有关。
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