Relationships among androgen receptor CAG repeat polymorphism, sex hormones and penile length in Han adult men from China： a cross-sectional study

This study aimed to investigate the correlations among androgen receptor （AR） CAG repeat polymorphism, sex hormones and penile length in healthy Chinese young adult men. Two hundred and fifty-three healthy men （aged 22.8 ± 3.1years） were enrolled. The individuals were grouped as CAG short （CAGs） if they harbored repeat length of 〈20 or as CAG long （CAGL） if their CAG repeat length was 〉20. Body height/weight, penile length and other parameters were examined and recorded by the specified physicians; CAG repeat polymorphism was determined by the polymerase chain reaction （PCR） method; and the serum levels of the sex hormones were detected by radioimmunoassay. Student＇s t-test or linear regression analysis was used to assess the associations among AR CAG repeat polymorphism, sex hormones and penile length. This investigation showed that the serum total testosterone （T） level was positively associated with the AR CAG repeat length （P = 0.01）; whereas, no significant correlation of T or AR CAG repeat polymorphism with the penile length was found （P = 0.593）. Interestingly, an inverse association was observed between serum prolactin （PRL） levels and penile length by linear regression analyses （β = -0.024, P = 0.039, 95% confidence interval （CI）： -0.047, 0）. Collectively, this study provides the first evidence that serum PRL, but not T or AR CAG repeat polymorphism, is correlated with penile length in the Han adult population from northwestern China.

Correlation study between the polymorphism of repetitive sequence in gene CAG of androgen receptor and the occurrence and progression of prostate cancer

Objective:To explore the relation between the polymorphism of repetitive sequence in gene CAG of androgen receptor(AR)and the susceptibility and clinical stages as well as pathological grading of prostate cancer among Han population.Method:Sixty-eight cases with prostate cancer hospitalized in Urinary Surgery Department from Feb.2010 to Feb.2012 and 60 healthy cases were chosen as research subjects.Methods of PCR and direct sequencing were adopted to detect DNA sequence of AR gene and the length of repetitive sequence in CAG.Results:The lengths of repetitive sequence in CAG of patients with prostate cancer and healthy people were(22.3±4.6)and(23.0±4.9),respectively showing no statistical significance.Comparing length(repetitive sequence of CAG)>22,those with that<22 suffer a remarkably higher risk of prostate cancer(P<0.05).The number of repetitive sequence in CAG of patients at clinical stage C-D was less than that of patients at stage B,and the number of repetitive sequence in CAG of patients with poorly differentiated prostate cancer was also less than that of patients with moderately and highly differentiated prostate cancer.But there was no statistical significance int the difference(P>0.05);the proportion of patients with length<22 at clinical stage C-D was much larger than that of patients at clinical stage B(P<0.05),and as the aggravation of pathological grading,the proportion of patients with the length<22 was also remarkably increased and there was significant difference between patients with highly differentiated prostate cancer and those with poorly differentiated prostate cancer(P<0.05).Conclusions:There is correlation between the occurrence and development of prostate cancer in Han population and the polymorphism of repetitive sequence in gene CAG of androgen receptor.The less the number of repetitive sequence in CAG is,the higher the risk of prostate cancer will be and the more severe the clinical stage and pathological grading will be.

CAG and GGN Repeat Length Polymorphisms of Androgen Receptor Gene in Women with Breast Cancer: A Case-Control Study from South India

Aim: The Androgen Receptor (AR) is a ligand-dependent transcriptional activator and the AR gene contains a highly polymorphic trinucleotide repeat CAG and GGN in the first exon. Given the lack of information AR-CAG and GGN repeat polymorphism and its potential correlation with breast cancer in South Indian women, we conducted a case-control study to observe the effects of CAG & GGN repeat length polymorphism and risk of breast cancer. Methods: Polymorphisms for AR-CAG and GGN repeat length was detected by Gene Scan analysis in the genomic DNA from cases with breast cancer and controls. Results: Association between AR genotype was calculated by categorising alleles as short (S) and long (L) and taking median value as the cut-off. LL genotype of CAG repeat was found to be associated with breast cancer (OR, 4.58;95% CI, 10.61-1.98;p—0.0004). GGN repeat having ≥21 was found in most of the cases and none of the cases showed 20 repeats thus indicate that alleles having homozygous repeat 20 may be protective towards breast cancer. Also, SS genotype was observed in 56.84% of cases and in 73.03% of controls (OR, 0.48;95% CI, 0.26-0.89;p value, 0.02). Conclusion: Our results indicate that longer CAG and GGN repeat may be associated with breast cancer whereas, the shorter GGN repeat length genotype of AR are protective.

Androgen receptor gene polymorphism and sex hormones in elderly men:the Tromsøstudy

The aim of this study was to examine whether CAG/GGN repeats are significant modulators of serum concentrations of total and free testosterone(T)as well as of luteinizing hormone(LH)in elderly men.Sixty-nine 60-to 80-year-old men with subnormal T levels(≤11.0 nmol L^(-1))and 104 men with normal T levels taking part in a nested case-control study were used for these analyses.Sex hormones were measured and free T was calculated.The CAG and GGN polymorphisms in the androgen receptor gene were determined by polymerase chain reaction and subsequent direct sequencing.There were no differences in the CAG and GGN repeat lengths between the groups.In cross-sectional analyses of the whole cohort,total and free T were positively associated with CAG length(all P<0.05)before,but not after,waist circumference or body mass index was added to the model.CAG repeat lengths were weakly,but not independently,associated with total and free T.These findings indicate that when clinically evaluating T and LH levels in elderly men,the CAG and GGN repeat lengths do not need to be taken into consideration.

Phenotypic heterogeneity of mutations in androgen receptor gene

Androgen receptor （AR） gene has been extensively studied in diverse clinical conditions. In addition to the point mutations, trinucleotide repeat （CAG and GGN） length polymorphisms have been an additional subject of interest and controversy among geneticists. The polymorphic variations in triplet repeats have been associated with a number of disorders, but at the same time contradictory findings have also been reported. Further, studies on the same disorder in different populations have generated different results. Therefore, combined analysis or review of the published studies has been of much value to extract information on the significance of variations in the gene in various clinical conditions. AR genetics has been reviewed extensively but until now review articles have focused on individual clinical categories such as androgen insensitivity, male infertility, prostate cancer, and so on. We have made the first effort to review most the aspects of AR genetics. The impact of androgens in various disorders and polymorphic variations in the AR gene is the main focus of this review. Additionally, the correlations observed in various studies have been discussed in the light of in vitro evidences available for the effect of AR gene variations on the action of androgens.

Androgen insensitivity syndrome： do trinucleotide repeats in androgen receptor gene have any role？

Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction （PCR） amplification followed by allelic genotyping to determine allele length. Results： Our study revealed significantly shorter mean lengths of CAG repeats in patients （mean 18.25 repeats, range 14-26 repeats） in comparison to the controls （mean 22.57 repeats, range 12-39 repeats） （two-tailed P 〈 0.0001）. GGN repeats, however, did not differ significantly between patients （mean 21.48 repeats） and controls （mean 21.21 repeats） （two- tailed P = 0.474）. Among patients＇ groups, the mean number of CAG repeats in partial androgen insensitivity cases （mean 15.83 repeats） was significantly less than in complete androgen insensitivity cases （mean 19.46 repeats） （two- tailed P 〈 0.0001）. Conclusion： The findings suggest that shorter lengths of repeats in the AR gene might act as low penetrance genetic background in varying manifestation of androgen insensitivity.

Androgen receptor gene CAG and GGN repeat lengths as predictors of recovery of spermatogenesis following testicular germ cell cancer treatment

Spermatogenesis is an androgen-regulated process that depends on the action of androgen receptor （AR）. Sperm production may be affected in men treated for testicular cancer （TC）, and it is important to identify the factors influencing the timing of spermatogenesis recovery following cancer treatment. It is known that the CAG and GGN repeat numbers affect the activity of the AR; therefore, the aim of this study is to investigate if the CAG and GGN polymorphisms in the AR gene predict recovery of sperm production after TC treatment. TC patients （n = 130） delivered ejaculates at the following time points： postorchiectomy and at 6, 12, 24, 36, and 60 months posttherapy （TO, T6, T12, T24, T36, and T60）. The CAG lengths were categorized into three groups, 〈22 CAG, 22-23 CAG, and 〉23 CAG, and the GGN tracts were also categorized into three groups, 〈23 GGN, 23 GGN, and 〉23 GGN. At T12, men with 22-23 CAG presented with a statistically significantly （P = 0.045） lower sperm concentration than those with other CAG numbers （8.4 × 10^6 ml^-1 vs 16 × 10^6 ml^-1; 95% CI： 1.01-2.65）. This association was robust to omitting adjustment for treatment type and sperm concentration at TO （P= 0.021; 3.7× 10^6 ml^-1 vs 10 × 10^6 ml^-1; 95% CI： 1.13-4.90）. The same trends were observed for total sperm number. The least active AR variant seems to be associated with a more rapid recovery of spermatogenesis. This finding adds to our understanding of the biology of postcancer therapy recovery of fertility in males and has clinical implications.

Association between SHBG(TAAAA)n and AR(CAG)n polymorphisms and PCOS risk: A meta-analysis

AIM: To systematically assess the association between sex hormone-binding globulin(SHBG)(TAAAA)n and androgen receptor(AR)(CAG)n polymorphisms and polycystic ovarian syndrome(PCOS) risk.METHODS: We searched MEDLINE(PubM ed), EMBASE and Web of Science database from inception to May2014. To avoid missing any additional studies, we looked through all the references of relevant articles. Case-control studies concerning the(CAG)n variants in the AR gene or the(TAAAA)n polymorphism in the SHBG gene in PCOS patients were included. Five studies regarding the(TAAAA)n polymorphism in the SHBG gene and 14 studies regarding the(CAG)n polymorphism in the AR gene met our criteria. Odd ratio(OR) and weighted mean difference(WMD) were selected as the effect size measurements to evaluate the influence of the(TAAAA)n polymorphism and(CAG)n variants on PCOS risk. Begg's test was used for the evaluation of publication bias.RESULTS: With respect to the relationship between the(TAAAA)n polymorphism and PCOS risk, the statistical results showed that there was no significant difference between PCOS patients and controls in the alleles of TAAAA(S: OR = 0.91, 95%CI: 0.78-1.05; L: OR = 1.10, 95%CI: 0.95-1.27). Subgroup analyses of the combination of alleles indicated similar results(shortshort: OR = 0.87, 95%CI: 0.66-1.14; short-long: OR = 1.12, 95%CI: 0.86-1.46; long-long: OR = 1.03, 95%CI: 0.72-1.47). As for the relationship between the(CAG)n polymorphism and PCOS risk, we found no association between CAG repeat variants and PCOS risk(WDM = 0.03, 95%CI:-0.13-0.08). Subgroup analyses by race and diagnosis criteria indicated the same results(Asian: WMD =-0.03, 95%CI:-0.14-0.07; Caucasian: WMD =-0.02, 95%CI:-0.24-0.21; the criteria of Rotterdam: WMD = 0.01, 95%CI:-0.01-0.03). CONCLUSION: There is no association between(TAAAA)n polymorphism in SHBG gene,(CAG)n repeat variants in AR gene and PCOS.

Study on relationship between polymorphism of hAR gene (CAG)n micro-satellite and prostate cancer

Objective: To study the relationship between the polymorphic (CAG)n micro-satellite of human androgen receptor (hAR) gene and prostate cancer (PCa). Methods: The number of (CAG)n repeats in 107 normal males were measured by a two-step [α-32P]-dCTP incorporated asymmetric polymeric chain reaction (PCR), and the (CAG)n repeats of both malignant and nonmalignant prostate cells in fixed paraffin-embedded tissue (PET) specimen from 36 case of PCa were determined by sequence analysis. Results: The repeats of polymorphic (CAG) n among normal men ranged from 11 to 29, and the most frequent repeat was 22(18. 69%), with 23(14. 02%), 24(10. 28%) and 21(10. 28%) being less frequent. The (CAG)n repeats of malignant prostate cells equaled to that of nonmalignant adjacent prostate tissue cells from the same PET specimen in all 36 PCa, and the (CAG)n repeats in 36 PCa which ranged from 16 to 22 were shorter than that in normal males significantly (P<0. 05), while no significant difference in (CAG)n repeats among various grade of tumor's differentiation (well-differentiated, intermediate-differentiated and poor-differentiated) was found (P>0. 05). Conclusion; The present study suggest that short hAR gene (CAG)n micro-satellite might be associated with the occurrence of PCa, but not with the differentiation of PCa.

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Background: Androgen insensitivity syndrome(AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor(AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer(CRC) have been described.Case presentation: Here, we present a male patient with AIS who developed multiple early-onset CRCs and his pedigree. His first cousin was diagnosed with AIS and harbored the same AR gene mutation, but with no signs of CRC. The difference in clinical management for the two patients was that testosterone treatment was given to the proband for a much longer time compared with the cousin. The CRC family history was negative, and no germline mutations in well-known CRC-related genes were identified. A single nucleotide polymorphism array revealed a microduplication on chromosome 22q11.22 that encompassed a micro RNA potentially related to CRC pathogenesis. In the proband, whole exome sequencing identified a polymorphism in an oncogene and 13 rare loss-of-function variants, of which two were in CRC-related genes and four were in genes associated with other human cancers.Conclusions: By pathway analysis, all inherited germline genetic events were connected in a unique network whose alteration in the proband, together with continuous testosterone stimulation, may have played a role in CRC pathogenesis.

雄激素受体基因CAG多态性与迟发性性腺功能减退症的相关性研究

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。

中国特发性无精子症和少精子症患者雄激素受体基因CAG重复多态性研究

目的分析中国特发性无精子症和少精子症患者雄激素受体(AR)基因(CAG)n微卫星多态性并探讨该多态性与精子生成障碍发生的关系。方法应用PCR和变性聚丙烯酰胺凝胶电泳分析技术对52例少精子症患者和31例无精子症患者的外周血标本进行CAG重复数测定,分析该微卫星多态性和精子生成障碍发生的关系。结果少精子症患者组和无精子症患者组CAG重复数均数分别为22.19和22.13,CAG重复数≥28的百分率分别为1.9%和3.2%,比例逐渐升高。结论AR基因(CAG)n微卫星的CAG重复数在中国男性不育患者中呈现多态性,与精子生成障碍发生的关系有待进一步研究。

雄激素受体CAG多态性与男性型脱发的关系

目的探讨雄激素受体第一外显子CAG三核苷酸重复序列与男性型脱发（MPB）的关系。方法收集MPB患者34例（顶秃3例，额秃31例）和正常男性38例，通过STR测定CAG重复数目。结果MPB患者CAG重复长度范围13．0-30．0，平均22．7。3例顶秃和31例额秃CAG平均值分别为22、0，23．8。对照组CAG重复长度范围15．0-30．0，平均23．3。不同组之间差异无显著性（P〉0、05）。结论雄激素受体CAG三核苷酸重复序列可能不是男性型脱发的主要遗传致病因素，治疗时需综合考虑。

雄激素受体基因第一外显子CAG重复序列长度多态性与男性膀胱癌的发生有关

目的:探讨人雄激素受体(AR)基因第一外显子CAG串联短重复序列(STR)多态性与男性膀胱癌发生之间的关系. 方法: 石蜡包埋的男性膀胱癌标本进行基因组DNA提取,PCR扩增,变性聚丙烯酰胺凝胶电泳,经银染显示单股DNA链片段长度. 根据标本的泳动度推算CAG STR的n值;选取代表性的标本产物直接测序,验证上述检测的准确性. 以男性阑尾炎标本作为参照组. 结果: 95例膀胱癌标本中有6例(6.3%)出现微卫星不稳定(MSI)现象,其中1例因正常组织过少而无法确定其产物的正常泳动位置,不做以下分析. 94例膀胱癌及相同例数参照标本的CAG STR n值范围分别为8～26和14～30,均数分别为20.07±3.12和21.06±3.39,两者有统计学意义(P<0.05). 结论: AR基因第一外显子CAG STR与男性膀胱癌的发生或(和)发展有关,CAG STR较短的男性个体患膀胱癌的危险性可能增加.

雄激素受体基因CAG多态性与痤疮中医分型的相关性研究

目的探讨雄激素受体基因CAG多态性与痤疮中医分型的相关性。方法应用PCR方法扩增,对肝郁气滞型和痰瘀热结型痤疮患者的阳性PCR产物进行测序,测序结果使用澳大利亚生物数据库W eb Angis分析。结果肝郁气滞型痤疮患者的雄激素受体基因CAG微卫星片段长度的平均值是23.87±2.97;痰瘀热结型痤疮患者的雄激素受体基因CAG微卫星片段长度的平均值是20.43±2.98,两型间进行比较雄激素受体基因CAG微卫星片段的长度的平均值有显著性差异(P<0.05)。结论雄激素受体基因CAG多态性与痤疮中医分型有关。

雄激素受体基因微卫星CAG多态与食管癌的分级

目的：探讨食管癌组织中雄性激素受体(AR)基因外显子1微卫星位点(CAG)n的多态性与食管癌分级的关系,及其与肿瘤生物学特性的相关性。方法:应用PCR扩增方法,对41例食管癌组织和30例癌旁组织AR的第一外显子CAG微卫星数量进行测定,并进行不同级别间的比较分析。结果:食管癌组织AR基因(CAG)n重复范围8～28,癌旁组织n范围在8～24;食管癌组织n范围在≤10或≥22的占34.1%,比癌旁组织高(13.3%),经χ2检验有显著性差异;在29对配对的标本中,多态性发生改变的占48.3%;AR基因CAG微卫星的数量随着食管癌细胞分化程度的降低而减少,其低分化食管癌(13.6)均数低于高分化食管癌(17.5),短组AR基因CAG微卫星分布比例随着食管癌的分化程度的升高而降低,长组AR基因CAG微卫星分布比例随着食管癌的分化程度的升高而增加。结论:在食管癌组织AR基因(CAG)n重复多态的改变是高发事件,AR基因的(CAG)n微卫星数量的减少与食管癌的恶性程度相关。

雄激素受体第一外显子CAG重复序列长度多态性与子宫平滑肌瘤遗传易感性有关

目的 :探讨人雄激素受体 (androgenreceptor,AR)基因中的CAG串联短重复序列 (short tandemrepeat,STR)长度与子宫平滑肌瘤易感性及不同类型肌瘤发生的关系 .方法 :对1 0 8例子宫平滑肌瘤和 1 4例女性阑尾炎 (参照组 )石蜡包埋标本进行基因组DNA提取 ,PCR扩增 ,变性聚丙烯酰胺凝胶电泳后银染显示扩增产物长度多态性 ,全部以较短的等位基因评价其长度 ,根据泳动度和测序结果判定其CAG重复次数 ,即STRn值 .结果 :肌瘤组和参照组的STRn值范围分别为1 7～ 31和 1 7～ 2 8,均数分别为 2 3.4± 2 .5和 2 1 .3± 3.1 ,前者显著长于后者 (P <0 .0 5 ) .瘤结节个数为 1个、2个或 3个和>3个的肌瘤标本n值均数分别为 2 3.1± 2 .2 ,2 3.3± 2 .8和2 3.8± 2 .2 ,n值较大者倾向于发生多结节病变 ,尽管统计学上未达到显著性差异 (P >0 .0 5 ) .同源型与多中心型的多发性平滑肌瘤标本的STRn值均数分别为 2 2 .2± 2 .5和 2 4 .1± 2 .1 ,两者差异显著 (P <0 .0 5 ) .结论 :位于AR基因第一外显子的CAGSTR长度与子宫平滑肌瘤的发生或发展有一定的关系 ,较长者可能易患这种肿瘤 。

雄激素受体基因微卫星CAG多态性与PCOS高雄激素血症关系的临床观察

目的：探讨雄激素受体基因微卫星CAG多态性与多囊卵巢综合征（PCOS）患者高雄激素血症的关系。方法：应用聚合酶链反应及变性聚丙烯酰胺凝胶分离技术检测128例PCOS患者及115例正常对照妇女雄激素受体（AR）基因微卫星CAG多态性及其分布，比较AR基因CAG等位基因与PCO$高雄激素之间的关系。结果：PCOS组和对照组的AR基因CAG等位基因范围分别为8—35和11—32，双等位基因均值分别为22．17±3，20，21．67±3．35。差异无统计学意义（P〉0．05）。短组AR基因CAG（n≤22）在PCOS组和对照组分布分别为34．4％（44／128），46．1％（53／115），长组AR基因CA6（n〉22）在PCOS组和对照组分别为65．6％（84／128），53．9％（62／115），差异无统计学意义（P〉Q05）。短组AR基因CAG在PCOS高雄激素血症组（T≥3.9nmol／L）的分布高于非高雄激素血症组（T〈3．0mmol／L）。但差别无统计学意义（P〉0.05）。结论：中国汉族雄激素受体基因微卫星CAG多态性对PCOS高雄激素血症的形成无明显关系，不是PCOS的主要致病因素。

雄激素受体CAG重复多态性与BPH和PCa相关性的meta分析

目的:通过meta分析探讨雄激素受体(AR)基因CAG重复多态性与良性前列腺增生(BPH)和前列腺癌(PCa)发病风险的关系。方法:检索国内外大型数据库发表的AR基因CAG重复多态性与BPH和PCa相关性的文献,基于异质性检验的结果,分别采用M-H固定效应模型和随机效应模型合并比值比(OR)效应量,采用Begg和Egger偏倚分析评估本项meta分析的发表偏倚,系统评价AR基因CAG重复多态性与BPH和PCa发病风险的关系,并按种族进行分层分析。结果:检索获得文献29篇,最终纳入4篇符合条件的文献,累计BPH患者485例、PCa患者767例、正常对照组709例。BPH组和正常对照组间不存在异质性,M-H固定效应模型合并效应量后提示低CAG重复多态性与BPH无相关性。PCa组和BPH组及对照组间均存在异质性,随机效应模型提示低CAG重复多态性与PCa的风险呈正相关(OR PCa/对照=1.45,OR PCa/BPH=1.86,OR PCa/(BPH+对照)=1.66)。种族分层的亚组分析提示,低CAG重复多态性与PCa发病风险在种族间存在差异。Begg和Egger偏倚分析显示各组比较中均无显著发表偏倚。结论:AR受体低CAG重复多态性与PCa发病风险呈正相关,与BPH发病风险无相关性。

雄激素受体基因CAG多态性与囊肿型痤疮的相关性研究

目的探讨雄激素受体基因CAG多态性与湖南汉族囊肿型痤疮的相关性。方法对寻常型和囊肿型痤疮患者及正常人的雄激素受体基因阳性PCR产物进行测序,测序结果应用Web Angis分析。结果寻常型痤疮患者的雄激素受体基因CAG微卫星片段长度的平均值为22.89±1.94,囊肿型痤疮患者为19.12±1.81,正常人为23.15±2.2;囊肿型组与寻常型组比较有显著性差异(t=8.41,P<0.05),与正常人组比较有显著性差异(t=8.23,P<0.05);而寻常型组与正常人组比较无显著性差异(t=0.528,P>0.05)。以(CAG)n重复片段<22为标准进行统计分析,囊肿型组与寻常型组比较有显著性差异(χ2=45.17,P<0.05),与正常人组比较有显著性差异(χ2=48.52,P<0.05);而寻常型组与正常人组比较无显著性差异(χ2=0.06,P>0.05)。结论雄激素受体基因CAG多态性与湖南汉族囊肿型痤疮之间有相关性。当(CAG)n重复片段<22时,患囊肿型痤疮的风险增大。