云南汉族痤疮与Ⅱ型5α-还原酶基因研究
摘要
目的:探讨云南汉族痤疮与Ⅱ型睾酮5-a还原酶(SRD5A_2)A49T、V89L基因相关性。
方法:采用PCR-限制性片段长度多态性方法对236例云南汉族痤疮患者及144例健康对照人群,进行5α还原酶Ⅱ型(SRD5A2)的V89L(89密码子亮氨酸替代缬氨酸L、V)及A49T(49密码子苏氨酸替代丙氨酸A、T)基因多态性位点酶切鉴定。
结果:V89L(L、V)等位基因分布频率在云南汉族男性重型痤疮患者与健康对照人群之间有相关性(X2=6.377,P=0.012,P<0.05)。V89L(LV+VV)基因型在云南汉族男性重型痤疮患者与健康对照人群比较有显著性差异(X2=4.498,P=0.034,P＜0.05)。云南汉族痤疮患者(男性轻型、女性轻型、重型)与健康对照人群的A49T和V89L的等位基因(A、T)和(L、V)分布频率之间及(AT+TT)基因型和(LV+VV)基因型均无统计学意义(P均＞0.05)。云南汉族男性重型痤疮患者与健康对照人群的A49T的等位基因(A、T)分布频率之间无统计学意义(P＞0.05)。
结论:V89L等位基因(LV+VV基因型)可能是云南汉族男性重型痤疮的易感基因。
Objective To discusses the relationship between acne and testosterone 5-αⅡoxidoreductase(SRD5A2) A49T、V89L gene,in the Han nationality of Yunnan province.
Method We made genetic polymorphisms enzyme cut appraisal for V89L(89 anticodon leucine alternative valineV、L) and A49T(49 anticodon 1-threonine alternative alanineA、T) of testosterone 5-αⅡoxidoreductase(SRD5A2) by using polymerase chain reaction(PCR) - restriction fragment length polymorphism method for 236 cases acne patients and 144 healthy controls,in the Han nationality of Yunnan province.
Results There is relationship between V89L alleles frequency distribution of Yunnan male severe acne patients and healthy controls population(X~2= 6.377,P = 0.012,P < 0.05).There is significant difference between Yunnan male heavy acne group LV + VV genotype patients and healthy controls crowd(X~2 = 4.498,P = 0.034,P < 0.05). There is not statistical significance between distribution frequencies of A49T and V89L alleles of Yunnan acne patients(male severe acne,female moderate acne, female severe acne) and healthy controls,(P > 0.05).There is not statistical significant between the A49T allele distribution frequencies of Yunnan male severe acne patients and healthy controls population(P > 0.05).
Conclusion V89L allele(LV + VV genotype) may be the susceptibility genes of yunnan male heavy acne.
方法:采用PCR-限制性片段长度多态性方法对236例云南汉族痤疮患者及144例健康对照人群,进行5α还原酶Ⅱ型(SRD5A2)的V89L(89密码子亮氨酸替代缬氨酸L、V)及A49T(49密码子苏氨酸替代丙氨酸A、T)基因多态性位点酶切鉴定。
结果:V89L(L、V)等位基因分布频率在云南汉族男性重型痤疮患者与健康对照人群之间有相关性(X2=6.377,P=0.012,P<0.05)。V89L(LV+VV)基因型在云南汉族男性重型痤疮患者与健康对照人群比较有显著性差异(X2=4.498,P=0.034,P＜0.05)。云南汉族痤疮患者(男性轻型、女性轻型、重型)与健康对照人群的A49T和V89L的等位基因(A、T)和(L、V)分布频率之间及(AT+TT)基因型和(LV+VV)基因型均无统计学意义(P均＞0.05)。云南汉族男性重型痤疮患者与健康对照人群的A49T的等位基因(A、T)分布频率之间无统计学意义(P＞0.05)。
结论:V89L等位基因(LV+VV基因型)可能是云南汉族男性重型痤疮的易感基因。
Objective To discusses the relationship between acne and testosterone 5-αⅡoxidoreductase(SRD5A2) A49T、V89L gene,in the Han nationality of Yunnan province.
Method We made genetic polymorphisms enzyme cut appraisal for V89L(89 anticodon leucine alternative valineV、L) and A49T(49 anticodon 1-threonine alternative alanineA、T) of testosterone 5-αⅡoxidoreductase(SRD5A2) by using polymerase chain reaction(PCR) - restriction fragment length polymorphism method for 236 cases acne patients and 144 healthy controls,in the Han nationality of Yunnan province.
Results There is relationship between V89L alleles frequency distribution of Yunnan male severe acne patients and healthy controls population(X~2= 6.377,P = 0.012,P < 0.05).There is significant difference between Yunnan male heavy acne group LV + VV genotype patients and healthy controls crowd(X~2 = 4.498,P = 0.034,P < 0.05). There is not statistical significance between distribution frequencies of A49T and V89L alleles of Yunnan acne patients(male severe acne,female moderate acne, female severe acne) and healthy controls,(P > 0.05).There is not statistical significant between the A49T allele distribution frequencies of Yunnan male severe acne patients and healthy controls population(P > 0.05).
Conclusion V89L allele(LV + VV genotype) may be the susceptibility genes of yunnan male heavy acne.
引文
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3.Cordain L,Lindeberg S,Hurtado M,Hill K,Eaton SB,Brand-Miller J.Acne vulgaris:a disease of Western civilization.Arch Dermatol.2002 Dec;138(12):1584-90.
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5.Taylor SC,Cook-Bolden F,Rahman Z,Strachan D.Acne vulgaris in skin of color.J Am Acad Dermatol.2002 Feb;46(2 Suppl Understanding):S98-106.
6.Chen W,Yang CC,Liao CY,Hung CL,Tsai S J,Chen KF,Sheu HM,Zouboulis CC.Expression of sex-determining genes in human sebaceous glands and their possible role in the pathogenesis of acne.J Eur Acad Dermatol Venereol.2006 Aug;20(7):846-52.
7.Paraskevaidis A,Drakoulis N,Roots I,Orfanos CE,Zouboulis CC.Polymorphisms in the human cytochrome P-450 1A1 gene(CYP1A1) as a factor for developing acne.Dermatology.1998;196(1):171-5.
8.Ando I,Kukita A,Soma G,Hino H.A large number of tandem repeats in the polymorphic epithelial mucin gene is associated with severe acne.J Dermatol.1998 Mar;25(3):150-2.
9.Sawaya ME,Shalita AR.Androgen receptor polymorphisms(CAG repeat lengths) in androgenetic alopecia,hirsutism,and ache.J Cutan Med Surg.1998.3:9-15.
10.孙素姣,杨浩然,杨智,何黎。云南汉族痤疮表型与家族史相关性的研究,中华皮肤科杂志,2007,40(11),704-705.
11.杨智,何黎等,348例痤疮遗传因素分析,中华皮肤科杂志,2007,40(6),368-370。
12.徐生新,王海林,范星,孙良丹,杨森,王培光,肖风丽,高敏,崔勇,任韵清,杜文辉,权晟,张学军.汉族人寻常性痤疮的家族危险性研究.安徽医科大学学报.2006,41(3),349-350.
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14.Zhi Yang,Haijing Yu,Baowen Cheng,Wenru Tang,Yongli Dong,Chunjie Xiao,Li He.Relationship between the CAG Repeat Polymorphism in the Androgen Receptor Gene and Ache in the Han Ethnic Group.Dermatology.2009;242(1):1-5.
15.Zouboulis CC,Chen WC,Thornton MJ,Qin K,Rosenfield R.Sexual hormones in human skin.Horm Metab Res.2007 Feb;39(2):85-95.
16.Zouboulis CC.Human skin:an independent peripheral endocrine organ.Horm Res,2000,54(5-6):230-242.
17.Heinlein CA,Chang C.The roles of androgen receptors and androgen-binding proteins in nongenomic androgen actions.Mol Endocrinol,2002,16(10):2181-2187.
18.Levy-Nissenbaum E,Bar-Natan M,Frydman M,et al.Confurmation of the association between male pattern baldness and the androgen receptor gene.Eur J Dermatol,2005,15(5):339-340.
19.Hayes VM,Severi G,Eggleton SA,et al.The E211 G >A androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia.Cancer Epidemiol Biomarkers Prev,2005,14(4):993-996.
20.Berthaut I,Mestayer C,Portois MC,et al.Pharmacological and molecular evidence for the expression of the two steroid 5 alpha-eductase isozymes in normal and hyperplastic human pro-static cells in culture (J).Prostate,1997,32:155～163.
21.Luo J,Dunn T A,EW NG CM,et al.Decreased gene exp ression of steroid 5 alpha-reductase 2 in human p restate cancenimplications for finasteride therapy of prostate carcinoma[J].Prostate,2003,57:134-139.
22.WIebeJP,MuziaD.The endogenous progesterone metabolite,5a-pregnane-3,20-dione,decreases cell-substrate attachment,adhesion plaques,vinculin expression,and polymerized F-actin inMCF-7 breast cancer cells[J]1 Endocrine,2001,16:7-14.
23.W Iebe J P,Lew IS M J.Activity and expression of p rogesterone metabolizing 5alpha-reductase,20alpha-hydroxysteroid oxidoreductase and 3alpha(beta)-hydroxysteroid oxidoreductases in tumorigenic(MCF-7,MDA-MB-231,T-47D)and nontumorigenic(MCF-10A)human breast cancer cells [J].BMC Cancer,2003,22:3-9.
24.Chin D,Shackleton C,Prasad VK,et al.Increased 5 alpha-reductase and normal 11 betahydroxysteroid dehydrogenase metabolism of C19 and C21 steroids in a young population with polycystic ovarian syndrome.J Pediatr Endocrinol Metab,2000,13:253-259.
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