细胞色素P450酶17基因多态性与迟发型男性性腺功能减退症的相关性研究

The association between polymorphism of CYP17 gene and late-onset male hypogonadism

目的：探讨细胞色素P450酶17（CYP17）基因多态性与迟发型男性性腺功能减退症（LOH）的关系，研究LOH的发病机制。方法纳入年龄在49～79岁的中老年男性356例，其中36例诊断为迟发性性腺功能减退症患者，随机抽取130例正常健康中老年男性，测量身高、体质量、腰围（WC）、血压，测定三酰甘油（TG）、总胆固醇（TC）、空腹血糖（FBG）、血清总睾酮（T）、雌二醇（E2），并应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测CYP17基因多态位点的片段，产物在2％琼脂糖凝胶上电泳确定出CYP17基因型，比较两组各指标之间的差异。结果 CYP17基因呈多态性：A1/A1、A1/A2和A2/A2。正常健康中老年男性的SBP、BMI、TG、TC 和，FBG较 LOH 患者低（P＜0．05），而 T和 T/E2比值较 LOH 组显著升高（P＜0．01），两组间E2差异无统计学意义（P＞0．05）。正常健康中老年男性组CYP17不同基因型之间T和T/E2比值差异无统计学意义（P＞0．05）；LOH组CYP17不同基因型之间T和T/E2比值差异有统计学意义（P＜0．05），两组不同基因型之间E2差异无统计学意义（P＞0．05）。LOH组较正常健康中老年男性组CYP17基因杂合变异型A1/A2呈现低频率分布（33．3％），而纯合变异型A2/A2呈高频率分布（47．3％），差异有统计学意义（P＜0．05）。结论 CYP17基因多态性可能与LOH患者的T水平有关，低水平的T和T/E2比值可能是LOH发病的危险因素。

Objective To investigate the association between the polymorphisms in CYP17 gene with late-onset male hypogonadism （LOH）and explore the pathogenesis of LOH.Methods The investigation involved 356＆amp;nbsp;men aged 40-79 years,including 36 cases with LOH.130 healthy middle-aged males were randomly selected.The body mass index （BMI）,height,waist circumference （WC）and blood pressure were measured and the levels of Triglycer-ide （TG）,serum total cholesterol （TC）,fasting blood glucose （FBG）,serum total testosterone（T）,serum estradiol （E2 ）were also detected.The polymorphisms of CYP17 gene were examined by PCR.Results The polymorphisms of CYP17 gene were A1/A1,A1/A2 and A2/A2.The mean SBP,BMI,TG,TC and FBG in the healthy males were sig-nificantly lower （P＆lt;0.05）,whileT and T/E2ratio were markedly higher compared with the LOH males（P〈0.01）, There was no significant difference in the level of E2 between the two groups（P〈0.05 ）.There were no significant difference in the levels of serum T and T/E2 ratio of the different CYP17 genotypes in the normal middle-aged males （P〈0.05）,while significant difference was found in the different CYP17 genotypes in LOH males （P〈0.05）,and there was no significant difference in the level of E2 in the different CYP17 genotypes between the two groups（P〈;0.05）.Heterozygous variants （A1/A2）of CYP17 were present in less frequency （33.3%）and homozygous （A2/A2）variants were higher frequently （47.3%）found in LOH,and the results were significant（P〈0.05）.Conclu-sion Polymorphisms in CYP17 gene may be associated with serum T concentrations in LOH cases,and low levels of serum T and T/E2 ratio might possibly act as risk factors for LOH.