CYP19a1基因的单核苷酸多态性与中国汉族成人寻常痤疮的关联研究

目的:初步探索CYP19a1基因的单核苷酸多态性(SNP)与中国汉族成人寻常痤疮发病和严重程度的关系。方法:共纳入309例Pillsbury分级Ⅰ~Ⅳ的寻常痤疮患者,分为轻度组(Ⅰ级,99例)和中重度组(Ⅱ~Ⅳ级,210例)。从患者外周静脉血中抽提DNA组,经多重聚合酶链式反应(PCR)获取目的基因片段后,采用SNa Pshot分型技术检测CYP19a1基因上的10个候选SNP位点的基因型。结果:1 rs28892002位点在显性遗传模式下,CC基因型的分布频率在中重度组显著高于轻度组(58.5%vs.46.5%,P=0.046,OR=0.614,95%CI=0.379~0.993);2 rs2255192-rs4646-rs10064-rs700519这组单倍型在显性模式下,其C-C-CC、C-C-T-C基因型在两组间分布差异有统计学意义(P值分别为0.0000、0.0216,OR值分别为5.0198和2.0707)。结论:中国汉族人群中,CYP19a1基因上的rs28892002位点CC野生纯合子基因型可能增加中重度寻常痤疮的患病风险;rs2255192-rs4646-rs10064-rs700519这组单倍型在显性模式下,其C-C-C-C、C-C-T-C基因型可能减少中、重度寻常痤疮的患病风险。     

补体C1q基因簇rs631090多态性与女性系统性红斑狼疮的相关性研究

目的:确定补体C1q基因簇单核苷酸多态性(single nucleotide polymorphisms,SNPs)与中国女性人群系统性红斑狼疮(SLE)的易感性。方法:111例女性SLE患者及120名女性正常对照者。提取样本基因组DNA后,经普通PCR扩增目的基因,采用二代测序分析C1q基因簇上三个位点(rs631090、rs292001、rs294223)的基因型及等位基因分布。在不同的遗传模式下分析三个位点基因多态性与SLE的相关性。结果:位点rs631090(C1qB)病例组与对照组基因型频率和等位基因分布比较差异均具有统计学意义(P=0.034和P=0.008)。位点rs292001(C1qA)和rs294223(C1qB)的基因型频率及等位基因分布结果在两组间不具统计学差异(P值均大于0.05)。位点rs631090在显性遗传模型下CT/CC基因型在统计学上具有显著保护性作用(OR=0.470,95%CI=0.268-0.823,P0.05)。rs292001和rs294223在三种遗传模型下分析均未发现相关性(P值均大于0.05)。结论:在中国女性人群中rs631090位点SNPs与SLE相关,基因型CT/CC可能为女性SLE保护基因型。     

CCR6基因多态性与蒙古族人群白癜风的相关性

目的探讨CCR6(human chemokine receptor 6)基因多态性与蒙古族人群白癜风的遗传关联性。方法收集散发型蒙古族白癜风患者425例,正常对照503例,选择位于CCR6基因区域的2个单核苷酸多态性(SNP)位点(rs2236313和rs6902119),利用连接酶检测反应进行基因分型。结果 rs2236313的等位基因T在病例组的频率明显高于在对照组中的频率(P=2.24×10~(-3),OR=1.33)。而rs6902119的等位基因C在病例组中的频率明显高于在对照组中的频率(P=5.57×10~(-5),OR=1.47)。2个SNP间存在强连锁不平衡(D’=0.892,r~2=0.74)。基因型分析结果显示,rs2236313在隐性遗传模式下,基因型分布在病例组中的频率显著低于对照组(P0.01)。而rs6902119在显性遗传及隐性遗传模式下,基因型分布在病例组中的频率均显著高于对照组(P0.01),但在隐性遗传模式下,P值更为显著,OR值更大。结论 CCR6基因多态性可能与蒙古族人群白癜风有相关性。     

LPP基因多态性与中国蒙古族白癜风关联分析

目的探讨LPP(Lim domain containing preferred translocation partner in lipoma)基因多态性与中国蒙古族人群白癜风患者的遗传相关性。方法收集425例蒙古族白癜风及503例蒙古族健康对照外周血,选择位于LPP基因区域的4个单核苷酸多态性(SNP)位点(rs13076312,rs13091753,rs1464510和rs1559810),应用连接酶检测反应(Ligase detection reaction,LDR)进行基因分型。利用PLINK1.07软件进行统计分析,χ~2检验比较病例组及对照组等位基因频率及基因型频率,并计算等位基因的相对危险度估计值比值比(OR)及其95%可信区间(95%CI)。结果 2个SNP(rs13076312_C,rs1464510_G)等位基因频率在白癜风组显著低于对照组(P0.01)。rs13076312在显性模式下,基因型频率在白癜风组与对照组间差异有统计学意义(P0.01),rs1464510在隐形遗传模式下,白癜风组基因型频率明显低于对照组,差异均具统计学意义(P0.01)。两个SNP(rs13091753和rs1559810)等位基因频率在白癜风组和对照组中差异无统计学意义(P0.09)。结论 LPP基因多态性与蒙古族白癜风具有相关性。     

白细胞免疫球蛋白样受体A2基因多态性与上海地区汉族系统性红斑狼疮相关性的研究

目的:检测系统性红斑狼疮(SLE)患者LILRA2基因多态性位点(rs2241524)的基因型频率,探讨其与SLE易感性的相关性。方法:采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)对SLE患者组(230例)及对照组(260例)LILRA2基因rs2241524位点进行基因分型。结果:SLE患者组LILRA2(rs2241524)基因型AA频率(6.5%)高于对照组(1.9%),差异有统计学意义(P0.05);基因型AG频率(36.1%)和GG频率(57.4%)分别与对照组(34.6%、63.5%)比较,差异均无统计学意义(P均0.05);SLE患者组等位基因A基因频率(24.6%)高于对照组(19.2%),差异有统计学意义(P0.05)。结论:上海地区汉族LILRA2基因多态性位点rs2241524(GA)与SLE发生相关。     

云南汉族痤疮与CYP11B1基因多态性的相关性研究

【摘要】 目的 探讨CYP11B1基因多态性与痤疮发病风险之间的相关性。 方法 SNaPshot法对云南汉族403例痤疮患者（包括轻型痤疮166例 、重型痤疮237例）和207例健康对照CYP11B1基因2个单核苷酸多态性位点：rs4736312和rs4534位点进行分型,ABI 3730XL扫描分型结果。结果 rs4736312位点：男性轻型痤疮组AA、AC和CC基因型频率分别为0、20.6%、79.4%,重型痤疮组为1.8%、26.8%、71.4%,男性健康对照组为7.6%、34.8%、57.6%。A等位基因的频率分布在男性痤疮组与健康对照组间、男性轻型痤疮与健康对照组间以及男性重型痤疮与健康对照组间,差异均具有统计学意义（分别为P < 0.01、< 0.05、< 0.05）,而女性痤疮组、女性轻型痤疮组、女性重型痤疮组A、G等位基因频率分布与健康对照组相比,差异均无统计学意义（P > 0.05）。rs4534位点：男性、女性两组别的痤疮组、轻型痤疮组及重型痤疮组的AA、AG、GG基因型频率分布和A、G等位基因频率分布与各自健康对照组间,差异均无统计学意义（P > 0.05）。 结论 CYP11B1基因中rs4736312位点与云南汉族男性痤疮发病相关,而rs4534位点与云南汉族痤疮的发病无相关。 【关键词】 痤疮,寻常; 11β-羟化酶; 多态性,单核苷酸     

CLOCK基因多态性与广西地区男性不育的相关性研究

目的探讨生物钟基因CLOCK基因多态性与广西地区男性不育的相关性。方法选取2019年3月至10月广西医科大学第一附属医院生殖中心和男性科门诊就诊的149例不育男性患者纳入不育组,根据精液检查分为少弱精不育组和原发性不育组;另选取91例同期体检有自然生育史、近期精液常规检查均为正常的健康男性作为对照组。采用DNA测序技术对CLOCK基因rs3749474和rs4580704位点进行基因分型。采用Logistic回归分析校正年龄后计算OR和95%CI,对CLOCK基因多态性和男性不育的遗传易感性进行关联分析。应用SHEsis软件进行单倍型分析。结果不育组和对照组rs3749474 CC基因型和C等位基因频率分布差异具有统计学意义(P=0.011,OR=2.78,95%CI:1.26～6.11;P=0.008,OR=1.68,95%CI:1.15～2.45)。而rs4580704位点各基因型和等位基因在对照组和不育组中的频率分布差异无统计学意义(P0.05)。亚组分析结果显示,rs3749474和rs4580704位点的基因型和等位基因在对照组和少弱精不育组中的频率分布差异均无统计学意义(P0.05)。而与对照组比较,rs3749474 CC基因型和C等位基因均显著增加男性原发性不育的风险(OR分别为4.81和2.22);rs4580704 CG、GG基因型和G等位基因携带者男性不育的患病风险增加(OR分别为3.78、4.02和2.13)。单倍型分析发现,CG和TC单倍型的频率在原发性不育组和对照组中的分布差异有统计学意义(P0.05)。结论 CLOCK基因rs3749474和rs4580704多态性与广西地区男性原发性不育有相关性。     

IL-12B和IL-23R基因多态性与中国汉族人银屑病易感性关联研究

目的 探讨中国汉族人群中IL-12B和IL-23R基因多态性与银屑病易感性的关系。方法 在217例银屑病患者和288例正常人对照中,采用DNA直接测序法对IL-12B和IL-23R基因的多态性位点进行基因分型,并将阳性结果在一个更大的包括578例银屑病患者和1422例正常人对照的整合样本群中,使用Taqman探针荧光PCR技术进行重复检验。实验数据进行Hardy-Weinberg平衡检验、卡方检验、单倍型分析和Logistic回归模型分析。结果 IL-12B rs6887695位点等位基因频率在病例组与对照组之间差异有统计学意义,OR = 1.33（95% CI 1.03 ~ 1.73）,P = 0.028;IL-23R rs11465817和rs1343152位点等位基因频率在病例组与对照组之间差异无统计学意义（P > 0.05）。连锁不平衡分析发现,rs11465817和rs1343152位点之间有一定的连锁不平衡（D′ = 0.744,r2 = 0.281）。对2个位点进行单倍型分析发现,A-A ∶ OR = 2.890,P = 0.0018,提示这一单倍型具有显著的发病风险。结论 IL-12B基因rs6887695多态性与中国汉族人群银屑病易感性相关;IL-23R基因rs11465817、IL-23R基因rs1343152位点多态性与中国汉族人群银屑病易感性无显著相关性,但是,IL-23R基因rs11465817-rs1343152位点A-A单倍型的中国汉族人具有更高的银屑病发病风险。     

GSTM1、GSTT1基因多态性与亚洲男性特发性不育症易感性相关性Meta分析

目的:探讨人群谷胱甘肽S-转移酶基因多态性与亚洲男性特发性不育易感性的关系。方法:检索pubmed,sciencedirect,springer,China biological medicine(CBM)、中国知网、万方、维普数据库从建库到2016年5月的文献,对所纳入的病例-对照研究,运用Rev Man4.2软件进行Meta分析。结果:共纳入14篇病例对照研究,关于GSTM1基因缺失型与不育症关系的研究总共纳入病例组3404人、对照组2308人,关于GSTT1基因缺失型与不育症关系的研究总共纳入病例组3143人、对照组2017人。Meta分析显示:(1)亚洲人群中GSTM1缺失基因型与原发性男性不育症易感性相关性有统计学意义(OR=1.30,95%CI=1.01~1.66,P0.05);亚组分析,东亚人群(OR=1.08,95%CI=0.94~1.23,P=0.260.05)、南亚人群(OR=1.06,95%CI=0.52~2.18,P=0.870.05)的GSTM1缺失基因型均与原发性男性不育症易感性相关性无统计学意义;而西亚人群(OR=2.01,95%CI=1.64~2.67,P=0.00010.05)的GSTM1缺失基因型与原发性男性不育症易感性有显著统计学意义;2、亚洲人群中GSTT1缺失基因型与原发性男性不育症易感性相关性无统计学意义(OR=1.20,95%CI=0.93~1.54,P0.05)。亚分组分析:东亚人群(OR=1.13,95%CI=0.89~1.44,P=0.330.05)和西亚人群(OR=1.65,95%CI=0.98~2.77,P=0.060.05)中GSTT1缺失基因型均与原发性男性不育症易感性相关性无统计学意义。结论:亚洲人群中GSTM1缺失基因型可能增加原发性男性不育症易感性;亚洲人群中GSTT1缺失基因型与原发男性不育症未见相关性。     

CD40基因多态性及血清水平与系统性红斑狼疮发病机制的相关研究

目的 探讨CD40基因单核苷酸多态性（SNP）及其单倍型与SLE易感性的相关性,分析CD40基因型及血清水平与系统性红斑狼疮（SLE）的相关性。 方法 单碱基延伸的PCR技术（PCR-SBE）和DNA测序法分析205例SLE患者和220例健康对照CD40基因rs1883832 C/T、 rs13040307 C/T、rs752118 C/T 和rs3765459 G/A的多态性,同时用ELISA检测血清CD40水平。 结果 与健康对照组相比,SLE组血清CD40水平显著增高（P < 0.05）。SLE组与健康对照组CD40基因rs1883832 C/T位点基因型和等位基因频率比较,差异有统计学意义（P < 0.01）。等位基因频率的相对风险分析后发现,携带有rs1883832 T等位基因的受试者患有SLE的风险是rs1883832 C等位基因的1.517倍（OR = 1.517,95% CI 1.157 ~ 1.990,P = 0.003）;携带rs1883832 T等位基因的SLE患者血清CD40水平与不携带者相比,结果显著增高（P < 0.01）。通过联合基因型分析发现,SLE组中携带单倍型TCCA的患者较健康对照组显著增加了发病的风险（OR = 2.322,95% CI 1.181 ~ 4.564,P = 0.012）。 结论 CD40基因rs1883832 C/T多态性和TCCA单倍型与SLE的发病有相关性,其中rs1883832 T等位基因可能是SLE的遗传易感基因。     

Functional properties of the surface of the vermilion border of the lips are distinct from those of the facial skin

BACKGROUND: The vermilion border of the lips (lip for short) is the only part on the face where the oral mucosa is persistently exposed to the outside. Despite its prominent presence on the face, constituting not only the target of cosmetics but also the site for various skin diseases, its functional properties remain almost unknown. OBJECTIVES: To elucidate the functional properties of the vermilion border of the lips. METHODS: We studied the biophysical properties of the lip by comparing them with those of the cheek skin in 303 healthy Japanese females aged 21-80 years, in winter. We used a closed-chamber system to measure transepithelial water loss (TEWL) of the lip to avoid the effect of breathing. Moreover, we examined the effects of oral etretinate, a drug that definitely produces dry, scaly lips, on the lips of seven male patients aged 49-89 (average 67) years. RESULTS: TEWL was significantly almost three times as high on the lips as that on the cheek which is a site that shows far higher levels than do other body areas. TEWL decreased with age more remarkably on the lip than on the cheek. High-frequency conductance, a parameter for surface hydration state, was significantly lower on the lip than on the cheek. The mean values obtained were about one-third of those on the cheek, and no age-related changes were observed either on the lip or on the cheek. The superficial epithelial cells on the lip were parakeratotic and larger than those of the cheek skin. Furthermore, we detected a significant increase in TEWL on the lip as well as on the cheek of patients treated with oral etretinate. CONCLUSIONS: It appears that the incomplete corneocyte formation of the lip surface is responsible for the poor barrier function and water-holding capacity.     

Measurement of the mechanical properties of the skin using the suction test

INTRODUCTION: The suction test is commonly used to study the mechanical properties of human skin in vivo. The unevenness of the stress fields complicates obtaining the intrinsic mechanical parameters of the skin in vivo because the values of the local stresses and deformations cannot be calculated directly from the displacements and forces applied by the test apparatus. In general, users only take into account the negative pressure applied and the elevation of the dome of skin drawn up in order to deduce the properties of the skin. This method has the major disadvantage of being dependent on the experimental conditions used: in particular, the size of the suction cup and the negative pressure applied. Here, we propose a full mechanical study of the test to provide rigorous results. We compare the frequently used geometric method (making the thin plate hypothesis), Timoshenko's method (which can take greater plate thicknesses into account) and finally various results obtained by the finite elements (FE) technique. METHODS: The suction test was modelled by FE with large displacements and large deformations both for orthotropic and isotropic plates. The results obtained in the elastic domain for various values of Young's modulus and of applied negative pressure were used as references and were compared with methods using analytical relationships. RESULTS: The geometric method generally used in the interpretation of suction tests gives results, which in certain configurations, are very different from those obtained by FE. The method of Timoshenko is suited to thick plates 'in contact' or embedded round the edge, the elevation of the dome and the tension and flexion stresss are analytically accessible through relationships involving four constants that are dependent on the limit conditions. Comparison with the FE results enabled the optimisation of the coefficients to adapt the relationships to the particular conditions of the suction trials. CONCLUSION: We showed the limits of the geometrical method and proposed a solution, which while remaining simple to use, gives results that are closer to reality both for the calculation of the modulus and for the determination of the state of the stresses obtained.     

自体疣包埋治疗尖锐湿疣疗效的Meta分析

目的：评价自体疣包埋对尖锐湿疣的治疗效果。方法：在Pubmed、《中国学术期刊网络出版总库》、《万方数据库》、《中文科技期刊数据库》中检索符合标准的关于自体疣包埋治疗尖锐湿疣的随机对照试验,应用Review Manager 5.3.5软件进行Meta分析。结果：共纳入10篇文献,入选文献发表偏倚较小,无明显异质性（P=0.25）。Meta分析结果显示,自体疣包埋联合CO2激光治疗对尖锐湿疣的治愈率显著高于单用CO2激光治疗,差异有统计学意义[Z=9.54,P<0.00001, RR=1.50,95%CI (1.38-1.63)]。结论：自体疣包埋联合CO2激光治疗治疗尖锐湿疣疗效优于单用CO2激光治疗。     

Idiopathic calcinosis of the areola of the nipple

Idiopathic calcinosis cutis involving the breast is a rare condition. Previously reported cases were detected by mammography without specific cutaneous findings. We report a case of idiopathic calcinosis of the areola of the nipple in a 32-year-old Korean woman that has unique clinical features resembling scrotal calcinosis.