脓疱型银屑病的易感基因研究进展
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摘要
脓疱型银屑病(PP)是较少见的具有生命威胁的银屑病类型,PP与遗传因素关系密切。编码白细胞介素36受体拮抗剂(IL36RN)基因、衔接蛋白复合体1-σ3亚单位异构体(AP1S3)基因和细胞凋亡募集结构域家族成员14(CARD14)基因等与PP的发病相关,其中IL36RN基因突变主要与单独型泛发型脓疱型银屑病(GPP)有关;AP1S3基因缺陷将破坏Toll样受体3向核内体易位并导致下游信号转导异常; CARD14基因突变主要与寻常型银屑病(PV)伴发GPP关系密切。基因突变位点和突变发生率随地域、种族以及是否伴发PV而不同。
Pustular psoriasis( PP) is a rare and life-threatening form of psoriasis that has been shown to be closely linked to genetic factors. Currently known susceptibility genes of PP include interleukin-36 receptor antagonist( IL36RN)gene,caspase recruitment domain-containing protein 14( CARD14) gene,adaptor protein complex 1( AP-1) subunit sigma-3( AP1S3) gene and other susceptible genes. IL36RN gene mutation is mainly associated with generalized pustular psoriasis( GPP) alone; AP1S3 gene defect impairs Toll-like receptor 3 trafficking,leading to an abnormal downstream signal transduction; CARD14 gene mutation is closely associated with psoriasis vulgaris( PV) accompanied with GPP. The location and frequency of mutations vary with region,ethnicity,and PV existence.
Pustular psoriasis( PP) is a rare and life-threatening form of psoriasis that has been shown to be closely linked to genetic factors. Currently known susceptibility genes of PP include interleukin-36 receptor antagonist( IL36RN)gene,caspase recruitment domain-containing protein 14( CARD14) gene,adaptor protein complex 1( AP-1) subunit sigma-3( AP1S3) gene and other susceptible genes. IL36RN gene mutation is mainly associated with generalized pustular psoriasis( GPP) alone; AP1S3 gene defect impairs Toll-like receptor 3 trafficking,leading to an abnormal downstream signal transduction; CARD14 gene mutation is closely associated with psoriasis vulgaris( PV) accompanied with GPP. The location and frequency of mutations vary with region,ethnicity,and PV existence.
引文
[1]丁晓岚,王婷琳,沈佚葳,等.中国六省市银屑病流行病学调查[J].中国皮肤性病学杂志,2010,24(7):598-601.
[2]李卉,杨森,林达,等.泛发性脓疱型银屑病44例临床分析[J].中国麻风皮肤病杂志,2005,21(6):441-442.
[3]陈娟,林俊华.中西医结合治疗泛发性脓疱型银屑病[J].中国麻风皮肤病杂志,2009,25(6):450-452.
[4]李仲桃,汪盛.脓疱性银屑病的遗传学研究进展[J].中华皮肤科杂志,2016,49(11):827-830.
[5]Blumberg H,Dinh H,Dean C Jr,et al.IL-1RL2 and its ligands contribute to the cytokine network in psoriasis[J].J Immunol,2010,185(7):4354-4362.
[6]Kumar S,Mc Donnell PC,Lehr R,et al.Identification and initial characterization of four novel members of the interleukin-1family[J].J Biol Chem,2000,275(14):10308-10314.
[7]Marrakchi S,Guigue P,Renshaw BR,et al.Interleukin-36 receptor antagonist deficiency and generalized pustular psoriasis[J].N Engl J Med,2011,365(7):620-628.
[8]Onoufriadis A,Simpson MA,Pink AE,et al.Mutations in IL36RN/IL-1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis[J].Am J Hum Genet,2011,89(3):432-437.
[9]M9ssner R,Frambach Y,Wilsmann-Theis D,et al.Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14,but Not with Loss-of-Function Mutations in IL36RN in European Patients[J].J Invest Dermatol,2015,135(10):2538-2541.
[10]Sugiura K,Takeichi T,Kono M,et al.A novel IL36RN/IL1F5homozygous nonsense mutation,p.Arg10X,in a Japanese patient with adult-onset generalized pustular psoriasis[J].Br J Dermatol,2012,167(3):699-701.
[11]Farooq M,Nakai H,Fujimoto A,et al.Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis[J].Hum Mutat,2013,34(1):176-183.
[12]Li M,Lu Z,Cheng R,et al.IL36RN gene mutations are not associated with sporadic generalized pustular psoriasis in Chinese patients[J].Br J Dermatol,2013,168(2):452-455.
[13]Ellingford JM,Black GC,Clayton TH,et al.A novel mutation in IL36RN underpins childhood pustular dermatosis[J].J Eur Acad Dermatol Venereol,2016,30(2):302-305.
[14]Aksentijevich I,Masters SL,Ferguson PJ,et al.An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist[J].N Engl J Med,2009,360(23):2426-2437.
[15]Milora KA,Fu H,Dubaz O,et al.Unprocessed Interleukin-36αRegulates Psoriasis-Like Skin Inflammation in Cooperation With Interleukin-1[J].J Invest Dermatol,2015,135(12):2992-3000.
[16]Bal E,Lim AC,Shen M,et al.Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome[J/OL].Exp Dermatol,2017.[2018-04-04].https://onlinelibrary.wiley.com/doi/full/10.1111/exd.13387.[published online ahead of print Jun 11,2017].
[17]Li M,Han J,Lu Z,et al.Prevalent and rare mutations in IL-36RNgene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris[J].J Invest Dermatol,2013,133(11):2637-2639.
[18]Rossi-Semerano L,Piram M,Chiaverini C,et al.First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra[J].Pediatrics,2013,132(4):1043-1047.
[19]Li X,Chen M,Fu X,et al.Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris[J].J Dermatol Sci,2014,76(2):132-138.
[20]王晓华,张娇,姜亚楠,等.IL36RN基因突变与寻常型银屑病及脓疱型银屑病的相关性分析[J].皮肤性病诊疗学杂志,2017,24(4):232-237.
[21]Li Z,Yang Q,Wang S.Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China:A case-control study[J].Medicine(Baltimore),2018,97(31):e11741.
[22]朱腾,晋红中.泛发性脓疱型银屑病的致病易感基因[J].协和医学杂志,2016,7(6):445-449.
[23]Wang TS,Chiu HY,Hong JB,et al.Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients[J].Arch Dermatol Res,2016,308(1):55-63.
[24]舒丹.泛发性脓疱性银屑病患者IL36RN和CARD14基因突变检测及相关研究[D].北京:北京协和医学院,2014.
[25]Jordan CT,Cao L,Roberson ED,et al.PSORS2 is due to mutations in CARD14[J].Am J Hum Genet,2012,90(5):784-795.
[26]Jordan CT,Cao L,Roberson ED,et al.Rare and common variants in CARD14,encoding an epidermal regulator of NF-kappaB,in psoriasis[J].Ame J Hum Genet,2012,90(5):796-808.
[27]K9rber A,M9ssner R,Renner R,et al.Mutations in IL36RN in patients with generalized pustular psoriasis[J].J Invest Dermatol,2013,133(11):2634-2637.
[28]Sugiura K,Muto M,Akiyama M.CARD14 c.526G>C(p.Asp176His)is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort[J].J Invest Dermatol,2014,134(6):1755-1757.
[29]Sugiura K,Takemoto A,Yamaguchi M,et al.The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist[J].J Invest Dermatol,2013,133(11):2514-2521.
[30]Berki DM,Liu L,Choon SE,et al.Activating CARD14.Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris[J].JInvest Dermatol,2015,135(12):2964-2970.
[31]Qin P,Zhang Q,Chen M,et al.Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis[J].J Invest Dermatol,2014,134(12):2994-2996.
[32]Zhang Z,Ma Y,Zhang Z,et al.Identification of Two Loci Associated with Generalized Pustular Psoriasis[J].J Invest Dermatol,2015,135(8):2132-2134.
[33]Setta-Kaffetzi N,Simpson MA,Navarini AA,et al.AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking[J].Am J Hum Genet,2014,94(5):790-797.
[34]Mahil SK,Twelves S,Farkas K,et al.AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production[J].J Invest Dermatol,2016,136(11):2251-2259.
[35]Hirst J,Borner GH,Antrobus R,et al.Distinct and overlapping roles for AP-1 and GGAs revealed by the"knocksideways"system[J].Curr Biol,2012,22(18):1711-1716.
[36]Dbniak T,Soczawa E,Boer M,et al.Common variants of ZNF750,RPTOR and TRAF3IP2 genes and psoriasis risk[J].Arch Dermatol Res,2014,306(3):231-238.
[37]Tsoi LC,Spain SL,Knight J,et al.Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity[J].Nat Genet,2012,44(12):1341-1348.
[38]Hunter CA.Act1-ivating IL-17 inflammation[J].Nat Immunol,2007,8(3):232-234.
[39]Qian Y,Liu C,Hartupee J,et al.The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease[J].Nat Immunol,2007,8(3):247-256.
[40]Schwandner R,Yamaguchi K,Cao Z.Requirement of tumor necrosis factor receptor-associated factor(TRAF)6 in interleukin 17signal transduction[J].J Exp Med,2000,191(7):1233-1240.
[41]Han JW,Wang Y,Alateng C,et al.Tumor Necrosis Factor-alpha Induced Protein 3 Interacting Protein 1 Gene Polymorphisms and Pustular Psoriasis in Chinese Han Population[J].Chin Med J(Engl),2016,129(13):1519-1524.
[42]付洪军,张福仁.泛发性脓疱性银屑病与HLA-DQB1等位基因的相关性研究[J].中华皮肤科杂志,2005,38(3):137-139.
[43]付洪军,宫雪梅,单晓峰,等.掌跖脓疱病、疱疹样脓疱病与HLA-DQB1等位基因的相关性研究[J].中国麻风皮肤病杂志,2009,25(2):109-110.
[2]李卉,杨森,林达,等.泛发性脓疱型银屑病44例临床分析[J].中国麻风皮肤病杂志,2005,21(6):441-442.
[3]陈娟,林俊华.中西医结合治疗泛发性脓疱型银屑病[J].中国麻风皮肤病杂志,2009,25(6):450-452.
[4]李仲桃,汪盛.脓疱性银屑病的遗传学研究进展[J].中华皮肤科杂志,2016,49(11):827-830.
[5]Blumberg H,Dinh H,Dean C Jr,et al.IL-1RL2 and its ligands contribute to the cytokine network in psoriasis[J].J Immunol,2010,185(7):4354-4362.
[6]Kumar S,Mc Donnell PC,Lehr R,et al.Identification and initial characterization of four novel members of the interleukin-1family[J].J Biol Chem,2000,275(14):10308-10314.
[7]Marrakchi S,Guigue P,Renshaw BR,et al.Interleukin-36 receptor antagonist deficiency and generalized pustular psoriasis[J].N Engl J Med,2011,365(7):620-628.
[8]Onoufriadis A,Simpson MA,Pink AE,et al.Mutations in IL36RN/IL-1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis[J].Am J Hum Genet,2011,89(3):432-437.
[9]M9ssner R,Frambach Y,Wilsmann-Theis D,et al.Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14,but Not with Loss-of-Function Mutations in IL36RN in European Patients[J].J Invest Dermatol,2015,135(10):2538-2541.
[10]Sugiura K,Takeichi T,Kono M,et al.A novel IL36RN/IL1F5homozygous nonsense mutation,p.Arg10X,in a Japanese patient with adult-onset generalized pustular psoriasis[J].Br J Dermatol,2012,167(3):699-701.
[11]Farooq M,Nakai H,Fujimoto A,et al.Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis[J].Hum Mutat,2013,34(1):176-183.
[12]Li M,Lu Z,Cheng R,et al.IL36RN gene mutations are not associated with sporadic generalized pustular psoriasis in Chinese patients[J].Br J Dermatol,2013,168(2):452-455.
[13]Ellingford JM,Black GC,Clayton TH,et al.A novel mutation in IL36RN underpins childhood pustular dermatosis[J].J Eur Acad Dermatol Venereol,2016,30(2):302-305.
[14]Aksentijevich I,Masters SL,Ferguson PJ,et al.An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist[J].N Engl J Med,2009,360(23):2426-2437.
[15]Milora KA,Fu H,Dubaz O,et al.Unprocessed Interleukin-36αRegulates Psoriasis-Like Skin Inflammation in Cooperation With Interleukin-1[J].J Invest Dermatol,2015,135(12):2992-3000.
[16]Bal E,Lim AC,Shen M,et al.Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome[J/OL].Exp Dermatol,2017.[2018-04-04].https://onlinelibrary.wiley.com/doi/full/10.1111/exd.13387.[published online ahead of print Jun 11,2017].
[17]Li M,Han J,Lu Z,et al.Prevalent and rare mutations in IL-36RNgene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris[J].J Invest Dermatol,2013,133(11):2637-2639.
[18]Rossi-Semerano L,Piram M,Chiaverini C,et al.First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra[J].Pediatrics,2013,132(4):1043-1047.
[19]Li X,Chen M,Fu X,et al.Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris[J].J Dermatol Sci,2014,76(2):132-138.
[20]王晓华,张娇,姜亚楠,等.IL36RN基因突变与寻常型银屑病及脓疱型银屑病的相关性分析[J].皮肤性病诊疗学杂志,2017,24(4):232-237.
[21]Li Z,Yang Q,Wang S.Genetic polymorphism of IL36RN in Han patients with generalized pustular psoriasis in Sichuan region of China:A case-control study[J].Medicine(Baltimore),2018,97(31):e11741.
[22]朱腾,晋红中.泛发性脓疱型银屑病的致病易感基因[J].协和医学杂志,2016,7(6):445-449.
[23]Wang TS,Chiu HY,Hong JB,et al.Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients[J].Arch Dermatol Res,2016,308(1):55-63.
[24]舒丹.泛发性脓疱性银屑病患者IL36RN和CARD14基因突变检测及相关研究[D].北京:北京协和医学院,2014.
[25]Jordan CT,Cao L,Roberson ED,et al.PSORS2 is due to mutations in CARD14[J].Am J Hum Genet,2012,90(5):784-795.
[26]Jordan CT,Cao L,Roberson ED,et al.Rare and common variants in CARD14,encoding an epidermal regulator of NF-kappaB,in psoriasis[J].Ame J Hum Genet,2012,90(5):796-808.
[27]K9rber A,M9ssner R,Renner R,et al.Mutations in IL36RN in patients with generalized pustular psoriasis[J].J Invest Dermatol,2013,133(11):2634-2637.
[28]Sugiura K,Muto M,Akiyama M.CARD14 c.526G>C(p.Asp176His)is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort[J].J Invest Dermatol,2014,134(6):1755-1757.
[29]Sugiura K,Takemoto A,Yamaguchi M,et al.The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist[J].J Invest Dermatol,2013,133(11):2514-2521.
[30]Berki DM,Liu L,Choon SE,et al.Activating CARD14.Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris[J].JInvest Dermatol,2015,135(12):2964-2970.
[31]Qin P,Zhang Q,Chen M,et al.Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis[J].J Invest Dermatol,2014,134(12):2994-2996.
[32]Zhang Z,Ma Y,Zhang Z,et al.Identification of Two Loci Associated with Generalized Pustular Psoriasis[J].J Invest Dermatol,2015,135(8):2132-2134.
[33]Setta-Kaffetzi N,Simpson MA,Navarini AA,et al.AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking[J].Am J Hum Genet,2014,94(5):790-797.
[34]Mahil SK,Twelves S,Farkas K,et al.AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production[J].J Invest Dermatol,2016,136(11):2251-2259.
[35]Hirst J,Borner GH,Antrobus R,et al.Distinct and overlapping roles for AP-1 and GGAs revealed by the"knocksideways"system[J].Curr Biol,2012,22(18):1711-1716.
[36]Dbniak T,Soczawa E,Boer M,et al.Common variants of ZNF750,RPTOR and TRAF3IP2 genes and psoriasis risk[J].Arch Dermatol Res,2014,306(3):231-238.
[37]Tsoi LC,Spain SL,Knight J,et al.Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity[J].Nat Genet,2012,44(12):1341-1348.
[38]Hunter CA.Act1-ivating IL-17 inflammation[J].Nat Immunol,2007,8(3):232-234.
[39]Qian Y,Liu C,Hartupee J,et al.The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease[J].Nat Immunol,2007,8(3):247-256.
[40]Schwandner R,Yamaguchi K,Cao Z.Requirement of tumor necrosis factor receptor-associated factor(TRAF)6 in interleukin 17signal transduction[J].J Exp Med,2000,191(7):1233-1240.
[41]Han JW,Wang Y,Alateng C,et al.Tumor Necrosis Factor-alpha Induced Protein 3 Interacting Protein 1 Gene Polymorphisms and Pustular Psoriasis in Chinese Han Population[J].Chin Med J(Engl),2016,129(13):1519-1524.
[42]付洪军,张福仁.泛发性脓疱性银屑病与HLA-DQB1等位基因的相关性研究[J].中华皮肤科杂志,2005,38(3):137-139.
[43]付洪军,宫雪梅,单晓峰,等.掌跖脓疱病、疱疹样脓疱病与HLA-DQB1等位基因的相关性研究[J].中国麻风皮肤病杂志,2009,25(2):109-110.