MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children

Pediatric Nephrology

Volumn 25, Issue 10, 2010, Pages 2077-2082

  He, Xuelian ^a   Lu, Hao ^b   Kang, Shixiu ^a   Luan, Jiangwei ^a   Liu, Zhisheng ^a   Yin, Wei ^a   Yao, Hui ^a   Ding, Yan ^a   Li, Tao ^a   Heng, Chew Kiat ^c  

^a Wuhan Children's Hospital   (China)

^b INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

Association; Henoch Sch nlein purpura nephritis; MEFV; Pyrin; Susceptibility

Indexed keywords

ALLELE; ANAPHYLACTOID PURPURA; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEFV GENE; NEPHRITIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CYTOSKELETAL PROTEINS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PURPURA, SCHOENLEIN-HENOCH;

EID: 77956230173     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1582-2     Document Type: Article

References (27)

1. JM Gardner-Medwin P Dolezalova C Cummins TR Southwood 2002 Incidence of Henoch-Schönlein purpura, Kawasaki disease, and rare vasculitides in children of different ethnic origins Lancet 360 1197 1202 10.1016/S0140-6736(02) 11279-7 12401245
2. YH Yang CF Hung CR Hsu LC Wang YH Chuang YT Lin BL Chiang 2005 A nationwide survey on epidemiological characteristics of childhood Henoch-Schönlein purpura in Taiwan Rheumatology (Oxford) 44 618 622 10.1093/rheumatology/keh544
3. PA Brogan 2007 What's new in the aetiopathogenesis of vasculitis? Pediatr Nephrol 22 1083 1094 10.1007/s00467-007-0450-1 17357785
4. JJ Chae G Wood SL Masters K Richard G Park BJ Smith DL Kastner 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production Proc Natl Acad Sci USA 103 9982 9987 10.1073/pnas.0602081103 1:CAS:528:DC%2BD28XmvVajur4%3D 16785446
5. JJ Chae G Wood K Richard H Jaffe NT Colburn SL Masters DL Gumucio NG Shoham DL Kastner 2008 The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment Blood 112 1794 1803 10.1182/blood-2008-01-134932 1:CAS:528:DC%2BD1cXhtVylu7rP 18577712
6. F Milhavet L Cuisset HM Hoffman R Slim H El-Shanti I Aksentijevich S Lesage H Waterham C Wise C Sarrauste de Menthiere I Touitou 2008 The infevers autoinflammatory mutation online registry: update with new genes and functions Hum Mutat 29 803 808 10.1002/humu.20720 18409191
7. AC Villani M Lemire E Louis MS Silverberg C Collette G Fortin ER Nimmo Y Renaud S Brunet C Libioulle J Belaiche A Bitton D Gaudet A Cohen D Langelier JD Rioux ID Arnott GE Wild P Rutgeerts J Satsangi S Vermeire TJ Hudson D Franchimont 2009 Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis PLoS ONE 4 e7154 10.1371/journal.pone.0007154 19784369
8. NA Ayaz S Ozen Y Bilginer M Ergüven E Taşkiran E Yilmaz N Beşbaş R Topaloǧlu A Bakkaloǧlu 2009 MEFV mutations in systemic onset juvenile idiopathic arthritis Rheumatology (Oxford) 48 23 25 10.1093/rheumatology/ken409 1:CAS:528:DC%2BD1cXhsVOgsLzE
9. S Ozen A Bakkaloglu E Yilmaz A Duzova B Balci R Topaloglu N Besbas 2003 Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? J Rheumatol 30 2014 2018 1:CAS:528:DC%2BD3sXnvVSks7c%3D 12966608
10. K Migita T Nakamura Y Maeda T Miyashita T Koga M Tanaka M Nakamura A Komori H Ishibashi T Origuchi H Ida E Kawasaki M Yasunami K Eguchi 2008 MEFV mutations in Japanese rheumatoid arthritis patients Clin Exp Rheumatol 26 1091 1094 1:STN:280:DC%2BD1M7jsFCrug%3D%3D 19210876
11. D Durmus G Alayli K Cengiz S Yigit F Canturk H Bagci 2009 Clinical significance of MEFV mutations in ankylosing spondylitis Joint Bone Spine 76 260 264 10.1016/j.jbspin.2008.09.011 19119044
12. E Yurtcu H Gokcan U Yilmaz FI Sahin 2009 Detection of MEFV gene mutations in patients with inflammatory bowel disease Genet Test Mol Biomarkers 13 87 90 10.1089/gtmb.2008.0094 1:CAS:528:DC%2BD1MXktFCjsb4%3D 19309279
13. R Gershoni-Baruch Y Broza R Brik 2003 Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura J Pediatr 143 658 661 10.1067/S0022-3476(03)00502-X 1:CAS:528: DC%2BD3sXovVWnsLY%3D 14615741
14. ZB Ozçakar F Yalçinkaya N Cakar B Acar O Kasapçopur D Ugüten D Soy N Kara N Uncu N Arisoy M Ekim 2008 MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura J Rheumatol 35 2427 2429 10.3899/jrheum.080405 18843775
15. N Tomiyama Y Higashiuesato T Oda E Baba M Harada M Azuma T Yamashita K Uehara A Miyazato K Hatta Y Ohya K Iseki Y Jinno S Takishita 2008 MEFV mutation analysis of familial Mediterranean fever in Japan Clin Exp Rheumatol 26 13 17 1:STN:280:DC%2BD1c7ntVehsw%3D%3D 18328141
16. A Tsuchiya-Suzuki M Yazaki A Nakamura K Yamazaki K Agematsu M Matsuda S Ikeda 2009 Clinical and genetic features of familial Mediterranean fever in Japan J Rheumatol 36 1671 1676 10.3899/jrheum.081278 1:CAS:528: DC%2BD1MXhtV2hu7nM 19531756
17. H Ozdogan N Arisoy O Kasapçapur L Sever S Calişkan N Tuzuner C Mat H Yazici 1997 Vasculitis in familial Mediterranean fever J Rheumatol 24 323 327 1:STN:280:DyaK2s7oslGgug%3D%3D 9034991
18. E Yilmaz S Ozen B Balci A Duzova R Topaloglu N Besbas U Saatci A Bakkaloglu M Ozguc 2001 Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population Eur J Hum Genet 9 553 555 10.1038/sj.ejhg.5200674 1:CAS:528:DC%2BD3MXmsVOltrs%3D 11464248
19. JA Mills BA Michel DA Bloch LH Calabrese GG Hunder WP Arend SM Edworthy AS Fauci RY Leavitt JT Lie RW Lightfoot Jr AT Masi DJ McShane MB Stevens SL Wallace NJ Zvaifler 1990 The American College of Rheumatology 1990 criteria for the classification of Henoch-Schönlein purpura Arthritis Rheum 33 1114 1121 10.1002/art.1780330809 1:STN:280:DyaK3czlvVyqtw%3D%3D 2202310
20. YH Yang HJ Lai CK Kao YT Lin BL Chiang 2004 The association between transforming growth factor-beta gene promoter C-509T polymorphism and Chinese children with Henoch-Schönlein purpura Pediatr Nephrol 19 972 975 10.1007/s00467-004-1547-4 15257453
21. O Soylemezoglu H Peru S Gonen A Cetinyurek N Buyan 2008 HLA-DRB1 alleles and Henoch-Schönlein purpura: susceptibility and severity of disease J Rheumatol 35 1165 1168 18412308
22. I Aksentijevich Y Torosyan J Samuels M Centola E Pras JJ Chae C Oddoux G Wood MP Azzaro G Palumbo R Giustolisi M Pras H Ostrer DL Kastner 1999 Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population Am J Hum Genet 64 949 962 10.1086/302327 1:STN:280:DyaK1M7pt1ensw%3D%3D 10090880
23. B Balci K Tinaztepe E Yilmaz S Guçer S Ozen R Topaloǧlu N Beşbaş M Ozguç A Bakkaloǧlu 2002 MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study Nephrol Dial Transplant 17 1921 1923 10.1093/ndt/17.11.1921 1:CAS:528:DC%2BD38Xptlelurk%3D 12401847
24. ET Turanli T Beger D Erdincler A Curgunlu S Karaman E Karaca S Dasdemir M Bolayirli H Yazici 2009 Common MEFV mutations and polymorphisms in an elderly population: an association with E148Q polymorphism and rheumatoid factor levels Clin Exp Rheumatol 27 340 343 1:STN:280:DC%2BD1MznsVeqtQ%3D%3D 19473580
25. S Papin P Duquesnoy C Cazeneuve J Pantel M Coppey-Moisan C Dargemont S Amselem 2000 Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus Hum Mol Genet 9 3001 3009 10.1093/hmg/9.20.3001 1:CAS:528: DC%2BD3MXjt1Wm 11115844
26. DR Booth HJ Lachmann JD Gillmore SE Booth PN Hawkins 2001 Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148 Q J Med 94 527 531 1:STN:280:DC%2BD3MrktFChtw%3D%3D
27. K Migita T Nakamura Y Maeda T Miyashita T Koga M Tanaka M Nakamura A Komori H Ishibashi T Origuchi H Ida E Kawasaki M Yasunami K Eguchi 2008 MEFV mutations in Japanese rheumatoid arthritis patients Clin Exp Rheumatol 26 1091 1094 1:STN:280:DC%2BD1M7jsFCrug%3D%3D 19210876