Cui Yuan-Rong, Guo Yi-Hong, Qiao Su-Dong, Leng Li-Fa, Xie Zhen-Hua, Chen Hui, Wang Xing-Ling
Reproductive Medical Center, the Third Affiliated Hospital of Zhengzhou University Department of Medical Genetics and Cell Biology, School of Basic Medical Sciences, Zhengzhou University Reproductive Medical Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Medicine (Baltimore). 2017 Aug;96(32):e7753. doi: 10.1097/MD.0000000000007753.
Human sex hormone binding globulin (SHBG) level alteration and SHBG gene mutations, especially in rs6259 and rs727428 loci, are associated with male infertility. In this study, the rs6259 and rs727428 loci in SHBG gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to explore the direct relation between these 2 loci and male infertility in Han population of Henan province and to provide information for the pathogenesis, diagnosis, and treatment of male infertility.A total of 366 male Han individuals in Henan province were enrolled in this study. Of the 366 male individuals, 183 infertility patients were served as infertility group and other 183 normal individuals as a control group. SHBG gene rs6259 and rs727428 locus polymorphisms were detected by PCR-RFLP in all patients. Also, genotype frequencies, allele frequency, and haplotype were all analyzed in both groups.There were statistical differences in A allele frequency (P = .017) and GA genotype frequency (P = .016) of SHBG gene rs6259 locus and in CC genotype frequency of SHBG gene rs727428 locus (P = .034) between the 2 groups.Male infertility is associated with GA genotype and A allele of rs6259 locus, as well as CC genotype of rs727428 locus in SHBG gene.
人类性激素结合球蛋白（SHBG）水平改变及SHBG基因突变，尤其是rs6259和rs727428位点的突变，与男性不育相关。本研究采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测SHBG基因的rs6259和rs727428位点，以探讨这两个位点与河南省汉族人群男性不育的直接关系，并为男性不育的发病机制、诊断及治疗提供依据。本研究共纳入366名河南省汉族男性个体。在这366名男性个体中，183例不育患者作为不育组，另外183名正常个体作为对照组。采用PCR-RFLP方法检测所有患者SHBG基因rs6259和rs727428位点的多态性。同时，对两组的基因型频率、等位基因频率及单倍型进行分析。两组间SHBG基因rs6259位点的A等位基因频率（P = 0.017）和GA基因型频率（P = 0.016）以及SHBG基因rs727428位点的CC基因型频率（P = 0.034）存在统计学差异。男性不育与SHBG基因rs6259位点的GA基因型和A等位基因以及rs727428位点的CC基因型相关。
