男性雄激素性秃发患者雄激素受体基因和5α还原酶基因多态性研究

目的 探讨华东地区汉族男性雄激素性秃发与雄激素受体基因和5α还原酶基因多态性的关系.方法 研究对象为101例男性雄激素性秃发患者和104例健康对照,抽取外周血后分离纯化出基因组DNA,采用聚合酶链反应和限制性片段长度多态性方法研究雄激素受体基因1号外显子StuⅠ限制性片段长度多态性和Ⅰ型5α还原酶(SRD5A1)和Ⅱ型5α还原酶(SRD5A2)基因多态性,微卫星扫描分析1号外显子CAG和GGC重复序列的多态性.结果 雄激素受体基因1号外显子StuⅠ限制性片段长度多态性在汉族男性雄激素性秃发患者与健康对照之间差异无统计学意义(P>0.05),雄激素受体基因的CAG重复序列多态性分布在两组之间差异无统计学意义(P=0.130),GGC重复序列多态性分布在两组之间差异有统计学意义(P=0.004);短CAG/短GGC分别在病例与对照组中占25.53%和46.88%(P=0.002),长CAG/长GGC分别占42.55%和19.79%(P=0.001).未发现SRD5A1及SRD5A2等位基因和基因型出现的频率不同(P>0.05).结论 雄激素受体基因GGC重复序列以及CAG/GGC重复序列多态性与汉族男性雄激素性秃发有明显关系.而5α还原酶基因多态性与汉族男性雄激素性秃发无明显关系.     

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。     

云南汉族女性痤疮与雄激素受体基因多态性的相关性研究

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）多态性与汉族女性痤疮发生之间的关系。方法选取了86名女性患者作为研究对象，68名正常女性作为对照组，将研究对象血样提取基因组DNA，采用PCR-genescan技术研究CAGSTR的n值。结果痤疮组及对照组的CAG STRn值范围分别为12～30和12～28，经t检验分析AR基因CAG重复片段数在对照组与各痤疮组之间分布没有差异。结论AR基因与云南汉族女性痤疮发病无明显相关性。     

皮脂腺及皮下脂肪疾病

雄激素受体基因CAG多态性与痤疮中医分型的相关性研究;妊娠期痤疮患雄激素和垂体激素水平研究;女性痤疮患卵泡期血清六项性激素水平的测定;寻常性痤疮局部药物治疗进展（综述）;自血疗法结合西药治疗寻常痤疮116例……[第一段]     

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。     

青春期后女性痤疮与慢性应激及雄激素水平的相关性研究

目的 研究青春期后女性痤疮患者的皮损总数、严重程度、生活质量与慢性应激、肾上腺源性雄激素水平的相关性。方法 100例26 ~ 45岁女性受试者（50例痤疮患者和50例正常对照）被纳入到该研究。通过单次血清采样，用放射免疫的方法测定受试者血清硫酸脱氢表雄酮（DHEAS）、皮质醇水平。同时用生活事件量表对受试者的慢性应激进行定性与定量；用皮肤病生活质量指数测定痤疮对患者生活的影响；用痤疮皮损计数法和痤疮综合分级系统记录患者皮损总数和严重程度。结果 病例组生活事件（总分值189.7 ± 36.5）、血清DHEAS（140 ± 30 μg/L）和皮质醇（348 ± 88 μg/L）水平均显著高于对照组（生活事件总分值104.3 ± 13.3、血清DHEAS 110 ± 17 μg/L、皮质醇142 ± 85 μg/L），两组比较，P 均 < 0.01。病例组的生活事件与血清DHEAS（r = 0.34，P < 0.05）、皮质醇（r = 0.44，P < 0.01）、痤疮皮损总数（r = 0.29，P < 0.05）呈显著正相关；DHEAS水平与痤疮皮损总数呈显著正相关（r = 0.54，P < 0.01）。病例组皮损总数、严重程度均与皮肤病生活质量指数有显著相关性（均为P < 0.01）。结论 青春期后女性痤疮的发病及皮损总数与慢性应激及其导致的肾上腺源性雄激素升高存在相关性。患者的皮肤病生活质量与皮损总数及严重程度相关。对于此期患者，除常规治疗之外需要对抗雄激素的治疗及心理治疗。     

痤疮患者血浆雄激素水平及白细胞雄激素受体的测定

为探讨痤疮患者外周血雄激素及白细胞雄激素受体（AR）含量对痤疮发生发展的影响，对35例痤疮患者和35名正常对照采用放射配体结合分析法测定白细胞雄激素受体含量，同时用放射免疫法检测血浆雄激素水平，结果：男性痤疮患者，血浆睾酮仅轻度升高，但其外周血白细胞AR的水平与对照组相比有明显升高（P＜0．05），女性痤疮患者，血浆睾酮水平及外周血白细胞AR水平与对照组相比均明显升高（P＜0．01），雄激素及其受体含量增高在女性痤疮的发病中可能起着重要的作用，痤疮的严重程度与睾酮水平及白细胞AR水平密切相关。     

痤疮患者皮肤生理功能测定

目的 探讨痤疮患者面部皮肤生理功能的特点，以期指导痤疮患者的治疗。方法 选取受试对象120例，试验组为痤疮患者60例，其中男20例，女40例，平均年龄23.4岁；对照组为健康志愿者60例，其中男20例，女40例，平均年龄25.1岁。运用无创性皮肤生理功能测试仪，测量受试者的面颊及T区（油脂分泌旺盛区域）皮肤油脂、面颊皮肤弹性和水分。结果 试验组面部T区油脂量为（199.98 ± 58.21） μg/cm2，健康对照组为（117.55 ± 63.16） μg/cm2，两组差异有统计学意义（t = 7.34，P < 0.05）。试验组面颊油脂量为（154.45 ± 55.06） μg/cm2，健康对照组为（87.50 ± 47.36） μg/cm2，两组差异有统计学意义（t = 7.14，P < 0.05）。试验组皮肤弹性（0.7931 ± 0.0755R）与健康对照组（0.7882 ± 0.0498R）比较，差异无统计学意义（P > 0.05），试验组皮肤水分（30.75% ± 3.87%）与健康对照组（30.94% ± 2.91%）比较，差异也无统计学意义（P > 0.05）。结论 痤疮患者颜面皮肤油脂分泌过多。     

皮脂腺及皮下脂肪疾病

993038 痤疮患者外周血白细胞雄激素受体的测定/曾燕（解放军济南医学高等专科学校病理科）…//中华皮肤科杂志.-1999,32（2）.-131 用血清睾酮放免试剂盒测定患者和对照组各40例的血清睾酮水平,用放射配体方法测定两组白细胞雄激素受体（AR）的水平。结果20例男性患者血清睾酮轻度升高,与对照组比较无统计学意义;而外周血白细胞AR水平相比显著升高（P<0.05）;20例女性患者两者与对照组相比均显著升高（P<0.01）。表明雄激素及其受体含量增高在女性发病中起着更重要的作用。表1参4 （张孝友）993039 34例痤疮患者的心理因素分析/吴巧巧（广东佛山市职工医院）//岭南皮肤性病科杂志.-1999,6（1）.-45     

重组白介素18抗小鼠系统性白念珠菌感染的研究

目的 探讨重组白介素18在抗小鼠系统性白念珠菌感染中的作用。方法 建立环磷酰胺诱导的免疫抑制小鼠系统性白念珠菌感染动物模型，设置对照组（单纯白念珠菌感染组）与处理组（白念珠菌感染前注射重组白介素18）。用平皿稀释法检测肾脏、脾脏组织菌落形成单位（cfu）数目；制作肾、脾脏组织病理学标本，评估其病理学分级；并通过酶联免疫吸附试验（ELISA）检测脾脏干扰素γ分泌水平。结果 感染后2，3，7天，处理组肾脏cfu分别为4.996 ± 0.063，4.765 ± 0.188，3.985 ± 0.133，对照组肾脏cfu分别为5.786 ± 0.110，6.097 ± 0.079，5.996 ± 0.082，处理组显著低于对照组（P < 0.01）；脾脏组织cfu值也低于对照组，但两组差异无统计学意义（P > 0.05）。肾脏组织病理学评分处理组低于对照组，处理组较对照组感染程度减轻，差异有统计学意义（P < 0.05）；脾脏组织病理学评分处理组也低于对照组，但差异无统计学意义（P > 0.05）。同时检测脾脏干扰素γ分泌水平，感染后2，3，7天，处理组分别为73.529 ± 6.070，92.181 ± 7.820，108.564 ± 9.802 pg/mL，对照组分别为40.511 ± 4.456，59.414 ± 5.041，64.455 ± 5.272 pg/mL，处理组明显高于对照组，差异具有统计学意义（P < 0.01）。结论 重组白介素18在小鼠系统性白念珠菌感染中具有保护作用。     

Combination of short CAG and GGN repeats in the androgen receptor gene is associated with acne risk in North East China

Background Acne vulgaris is one of the most common skin disorders, and androgen is known to play a key role in the development of acne. However, the exact genetic mechanism by which androgen receptor (AR) gene affects acne development is still unclear. Objective Our study aimed to investigate whether CAG and GGN polymorphism of the AR gene are associated with acne risk. Patients and methods Two hundred thirty‐eight patients and 207 controls were included in the study. The repeat lengths of the AR gene were determined by GeneScan analysis. Results Men with CAG < 23 and women with CAG < 24 had significant risk compared to those men with CAG ≥ 23 [odds ratio (OR), 2.07; 95% confidence interval (95% CI), 1.21–3.54] and women with CAG ≥ 24 (OR, 2.05; 95% CI, 1.18–3.56). In males, GGN repeats, considered independently of the CAG repeat, have no significant effect on the acne risk; however, when combined with CAG repeats, the acne patients exhibited significantly higher frequency of the haplotypes CAG < 23/GGN ≤ 23 (OR, 3.33; 95% CI, 1.10–10.07; P < 0.05) compared with the controls. Conclusion Our results of this study strongly indicated that a shorter CAG repeat length and specific haplotypes of AR attributed to the risk of acne development and thus could serve as a susceptibility marker.     

Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis

Background. Numerous studies have shown an association between polymorphisms in the androgen receptor gene (AR) and the risk for androgenetic alopecia (AGA), but the overall results are still controversial. Aim. To determine, by conducting a meta‐analysis, whether the common AR gene polymorphisms confer susceptibility to AGA. Methods. Publications addressing the association between AR gene polymorphisms and risk for AGA were selected from the PubMed, EMBASE and CBMdisc databases. Data were extracted from the studies by two independent reviewers. The meta‐analysis was performed using the software programs RevMan (version 5.0.25) and STATA (version 9.2). From these data, odds ratio (OR) with 95% confidence interval (CI) was calculated. Results. Only eight studies were found, reporting a total of 2074 patients with AGA and 1115 healthy controls. Three common polymorphisms of the AR gene were addressed: a StuI restriction‐site polymorphism (rs6152, G>A), and CAG and GGC triplet‐repeat polymorphisms. Meta‐analysis results identified a significant association between the G allele of the AR StuI polymorphism and the risk for AGA (OR = 2.68, 95% CI 1.71–4.19, P < 0.01), especially in white populations (OR = 2.76, 95% CI 1.71–4.45, P < 0.01). No association was found between the CAG or GGC polymorphism and the risk for AGA (OR = 0.81, 95% CI 0.49–1.34, P = 0.41; OR = 1.01, 95% CI 0.47–2.14, P = 0.99, respectively). Conclusion. Our meta‐analysis suggests that the G allele of AR StuI polymorphism might be a potential risk factor for AGA, especially in white populations. However, we did not find any obvious association of the CAG and GGC triplet‐repeat polymorphisms of the AR gene with risk for AGA.     

Men with Kennedy disease have a reduced risk of androgenetic alopecia

BACKGROUND: Spinal and bulbar muscular atrophy or Kennedy disease (KD) is an X-linked neurodegenerative disease caused by an expansion of a polymorphic tandem CAG repeat within the androgen receptor (AR) gene on chromosomal locus Xq11-q12. The CAG repeat region encodes a polyglutamine tract that, when expanded to above 40 in number, results in KD, a neurodegenerative disease primarily targeting lower motor neurones. KD is also associated with partial androgen insensitivity due to loss of receptor function. Degree of expansion of this repeat region, located in the first exon, is correlated with age at onset and disease severity. Androgenetic alopecia (AGA) is a polygenic trait also associated with functional polymorphism of the AR gene. OBJECTIVES: To test whether partial loss of function in the AR gene associated with CAG polymorphism reduces the risk of AGA in affected men. METHODS: Members of the Kennedy's Disease Association, an American-based support group, were invited to participate in an online survey to determine the age-related prevalence of AGA among men affected by KD. Data from 115 respondents with KD were compared with data from 654 white men of European descent in Maryborough, Australia. RESULTS: The mean AGA score for men with KD was 1.64 (95% confidence interval, CI 1.41-1.87). The mean score for men in Maryborough was 2.82 (95% CI 2.71-2.93). The difference between the means was highly significant (P < 0.001), indicating thicker hair among the KD cohort. Treating AGA score as a continuous variable we found age to be highly significantly related to AGA score in men from Maryborough (P < 0.001) but not among men affected by KD (P = 0.90). CONCLUSIONS: Men with KD have a reduced risk of AGA, likely to be due to a functional alteration in the AR caused by the polyglutamine expansion.     

Polymorphism of the androgen receptor gene is associated with male pattern baldness

The common heritable loss of scalp hair known as male pattern baldness or androgenetic alopecia affects up to 80% of males by age 80. A balding scalp is characterized by high levels of the potent androgen dihydrotestosterone and increased expression of the androgen receptor gene. To determine if the androgen receptor gene is associated with male pattern baldness, we compared allele frequencies of the androgen receptor gene polymorphisms (StuI restriction fragment length polymorphism and two triplet repeat polymorphisms) in cases with cosmetically significant baldness (54 young and 392 older men) and controls (107 older men) with no indication of baldness. The androgen receptor gene StuI restriction site was found in all but one (98.1%) of the 54 young bald men (p = 0.0005) and in 92.3% of older balding men (p = 0.000004) but in only 76.6% of nonbald men. The combination of shorter CAG and GGC triplet repeat lengths was also more prevalent in bald men (p = 0.03). The ubiquity of the androgen receptor gene StuI restriction site, and higher incidence of shorter triplet repeat haplotypes in bald men suggests that these markers are very close to a functional variant that is a necessary component of the polygenic determination of male pattern baldness. Functional mutation in or near the androgen receptor gene may explain the reported high levels of expression of this gene in the balding scalp.     

Polymorphic CAG repeat numbers in the androgen receptor gene of female pattern hair loss patients

Female pattern hair loss (FPHL) is frequently referred to as female androgenetic alopecia (FAGA). However, the role of androgen in this type of hair loss remains uncertain. We previously reported greater therapeutic efficacy of finasteride in Japanese male androgenetic alopecia (MAGA) patients in cases where the CAG repeats of the androgen receptor (AR) gene were short. To examine the correlation between CAG repeat numbers and the therapeutic efficacy of finasteride in FPHL patients, the efficacy of finasteride (1 mg/day) was evaluated macroscopically. Because women have two X-chromosomes, the shorter and longer CAG repeat numbers were analyzed in 37 Japanese FPHL patients, then the correlation of these factors was statistically analyzed by anova. No statistical significance in terms of the differences in CAG repeat numbers was detected among the four groups classified on the basis of the efficacy of finasteride. From these results, it may be concluded that the efficacy of this medicine in each FPHL patient cannot be predicted by the CAG repeat numbers in the AR gene.     

白介素27基因多态性与广西壮族系统性红斑狼疮的相关性研究

目的 探讨白介素27（IL-27）基因单核苷酸多态性与广西壮族系统性红斑狼疮（SLE）易感性之间的关系。方法 以135例SLE患者和150例正常人对照者为研究对象,应用聚合酶链反应-限制性片段长度多态性和DNA测序的方法对IL-27基因-964 A/G、2905 T/G单核苷酸多态性进行基因分型。结果 SLE组和正常人对照组中IL-27基因2905 T/G多态性分布差异无统计学意义（χ2 = 1.63,P > 0.05）,而IL-27基因-964 A/G多态性的分布差异有统计学意义（χ2 = 9.88,P < 0.01）。等位基因频率的相对风险分析发现,-964 G等位基因携带者患SLE的风险是-964 A等位基因的1.725倍（OR = 1.725,95% CI：1.227 ～ 2.425）。联合基因型分析发现,IL-27的-964 G /2905 G等位基因频率SLE组（10.7%）显著高于对照组（5.3%）（P < 0.01）,-964 G/2905 G等位基因携带者显著增加了SLE的发病风险（OR = 2.351,95% CI：1.228 ～ 4.501）。结论 IL-27基因-964 A/G多态性与SLE的发病具有相关性,其中-964 G等位基因可能是SLE的遗传易感基因。