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目的:研究雄激素受体基因(AR)重复序列(CAG)n多态性与迟发性性腺功能减退症(LOH)的关系,探讨LOH的发病机制。方法:共调查1 000例40～70岁中老年男性,其中19例迟发性性腺功能减退症患者,随机抽取127例正常健康中老年男性,测定甘油三酯(TG)、空腹血糖(FBG)、血清总睾酮(TT)、游离睾酮(fT),测量身高、体重、腰围(WC)、血压,并采用DNA测序方法进行AR基因外显子1氨基端转录调节区(CAG)n重复序列长度测定,比较两组各指标之间的差异。结果:(CAG)n重复次数为15～32(23.05±2.95)。正常健康中老年男性的体重指数(BMI)、FBG较LOH患者显著下降(P<0.01),而TG、TT及fT较LOH患者显著升高(P<0.01)。正常健康中老年男性AR基因(CAG)n重复数为22.54±3.06;LOH患者AR基因(CAG)n重复数为23.23±2.24;LOH患者(CAG)n重复数略高于正常健康人群,但两者比较无统计学意义(P=0.946)。(CAG)n重复长度显示:长组(n≥22)AR基因(CAG)n在LOH组和正常健康中老年男性组的频率分别为73.68%和48.82%(P<0.05)。相关分析显示:TT、fT与(CAG)n重复序列无明显相关性(r=0.04和r=0.025,P>0.05)。结论:LOH男性AR基因(CAG)n重复序列呈现多态性,长(CAG)n重复多态可能是LOH发病的遗传因素,但仍需进一步扩大样本量证实。
Objective: To investigate the relationship between the polymorphism of androgen receptor gene (AR) repeat (CAG) n and delayed hypogonadism (LOH), and to explore the pathogenesis of LOH. Methods: A total of 1 000 middle-aged and elderly men aged 40-70 years were enrolled in this study. Of the 19 patients with late-onset hypogonadism, 127 healthy and middle-aged men were randomly selected for determination of triglyceride (TG), fasting blood glucose (FBG) (TT), free testosterone (fT), height, weight, waist circumference (WC) and blood pressure were measured. DNA sequencing was used to detect the length of repeat region of exon 1 amino terminal transcription regulatory region (CAG) Determination, comparison of the differences between the two indicators. Results: The number of repetitions of (CAG) n was 15 ~ 32 (23.05 ± 2.95). The body mass index (BMI) and FBG of normal and healthy middle-aged men were significantly lower than those of LOH (P <0.01), while TG, TT and fT were significantly higher than those of LOH (P <0.01). The AR repeat (CAG) n in normal healthy middle-aged men was 22.54 ± 3.06, that of AR patients (CAG) n in LOH patients was 23.23 ± 2.24, while that of LOH patients was slightly higher than that of normal healthy people The comparison was not statistically significant (P = 0.946). (CAG) n repeat length showed that the frequency of CAG n of long group (n≥22) was 73.68% and 48.82% (P <0.05) respectively in LOH group and normal healthy middle-aged male group. Correlation analysis showed that there was no significant correlation between TT, fT and (CAG) n repeats (r = 0.04 and r = 0.025, P> 0.05). CONCLUSION: Polymorphism of AR gene (CAG) n polymorphism in LOH males is polymorphic. Long (CAG) n polymorphism may be the genetic factor for the pathogenesis of LOH. However, it is still necessary to further expand the sample size.