Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris

Journal of Investigative Dermatology

Volumn 132, Issue 7, 2012, Pages 1798-1805

  Sarig, Ofer ^a   Bercovici, Sivan ^b   Zoller, Lilach ^c   Goldberg, Ilan ^a   Indelman, Margarita ^d   Nahum, Sagi ^b   Israeli, Shirli ^a   Sagiv, Nadav ^a   Martinez De Morentin, Helena ^a   Katz, Oren ^a   Baum, Sharon ^e   Barzilai, Aviv ^e   Trau, Henri ^e   Murrell, Dedee F ^f   Bergman, Reuven ^d   Hertl, Michael ^g   Rosenberg, Shai ^h   Nöthen, Markus M ⁱ   Skorecki, Karl ^b   Schmidt, Enno ^j   Zillikens, Detlef ^j   Darvasi, Ariel ^k   Geiger, Dan ^b   Rosset, Saharon ^l   Ibrahim, Saleh M ^j   Sprecher, Eli ^a,l   more..

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c MACCABI HEALTHCARE SERVICES   (Israel)

^d RAMBAM MEDICAL CENTER   (Israel)

^e SHEBA MEDICAL CENTER   (Israel)

^f ST GEORGE HOSPITAL   (Australia)

^g PHILIPPS UNIVERSITY MARBURG   (Germany)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ UNIVERSITY OF BONN   (Germany)

^j UNIVERSITY OF LÜBECK   (Germany)

^k HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^l TEL AVIV UNIVERSITY   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; APOPTOSIS; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; EGYPT; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GERMANY; HUMAN; JEW; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; PEMPHIGUS VULGARIS; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY;

EID: 84862335428     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.46     Document Type: Article

References (51)

1. Ahmed AR, Mohimen A, Yunis EJ et al. (1993) Linkage of pemphigus vulgaris antibody to the major histocompatibility complex in healthy relatives of patients. J Exp Med 177:419-24 (Pubitemid 23117091)
2. Ameglio F, D'Auria L, Cordiali-Fei P et al. (1999) Anti-intercellular substance antibody log titres are correlated with serum concentrations of interleukin-6, interleukin-15 and tumor necrosis factor-alpha in patients with pemphigus vulgaris relationships with peripheral blood neutrophil counts, disease severity and duration and patients' age. J Biol Regul Homeost Agents 13:220-4
3. Atzmon G, Hao L, Pe'er I et al. (2010) Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared middle eastern ancestry. Am J Hum Genet 86:850-859
4. Barcellos LF, May SL, Ramsay PP et al. (2009) High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. PLoS Genet 5:e1000696
5. Barrett JC, Fry B, Maller J et al. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-5 (Pubitemid 40202029)
6. Behar DM, Yunusbayev B, Metspalu M et al. (2010) The genome-wide structure of the Jewish people. Nature 466:238-42
7. Bektas M, Jolly P, Rubenstein DS (2010) Apoptotic pathways in pemphigus. Dermatol Res Pract 2010:456841
8. Bhol KC, Desai A, Kumari S et al. (2001) Pemphigus vulgaris: the role of IL-1 and IL-1 receptor antagonist in pathogenesis and effects of intravenous immunoglobulin on their production. Clin Immunol 100:172-80
9. Bordenave K, Griffith J, Hordes SM et al. (2001) The historical and geomedical immunogenetics of pemphigus among the descendants of Sephardic Jews in New Mexico. Arch Dermatol 137:825-6 (Pubitemid 32577878)
10. Brick C, Belgnaoui FZ, Atouf O et al. (2007) Pemphigus and HLA in Morocco. Transfusion Clinique et Biologique 14:402-6 (Pubitemid 350217075)
11. Bystryn J-C, Grando SA (2006) A novel explanation for acantholysis in pemphigus vulgaris: the basal cell shrinkage hypothesis. J Am Acad Dermatol 54:513-6 (Pubitemid 43243458)
12. Bystryn J-C, Rudolph JL (2005) Pemphigus. Lancet 366:61-73 (Pubitemid 40956532)
13. Capon F, Bharkhada J, Cochrane NE et al. (2006) Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris. Br J Dermatol 154:67-71 (Pubitemid 43381322)
14. Carlson CS, Eberle MA, Kruglyak L et al. (2004) Mapping complex disease loci in whole-genome association studies. Nature 429:446-52 (Pubitemid 38715138)
15. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The History and Geography of Human Genes. Princeton University Press: Princeton, NJ
16. Chernyavsky AI, Arredondo J, Piser T et al. (2008) Differential coupling of M1 muscarinic and alpha7 nicotinic receptors to inhibition of pemphigus acantholysis. J Biol Chem 283:3401-8
17. Cialfi S, Oliviero C, Ceccarelli S et al. (2010) Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease. Br J Dermatol 162:518-26
18. Clancy RM, Marion MC, Kaufman KM et al. (2010) Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. Arthritis Rheum 62:3415-24
19. Fernandez-Morera JL, Rodriguez-Rodero S, Lahoz C et al. (2008) Soluble MHC class I chain-related protein B serum levels correlate with disease activity in relapsing-remitting multiple sclerosis. Hum Immunol 69:235-40
20. Gazit E, Loewenthal R (2004) The immunogenetics of pemphigus vulgaris. Autoimmunity Rev 4:16-20 (Pubitemid 40126367)
21. Gazit E, Slomov Y, Goldberg I et al. (2004) HLA-G is associated with pemphigus vulgaris in jewish patients. Hum Immunol 65:39-46 (Pubitemid 38209933)
22. Grando SA (2006) Cholinergic control of epidermal cohesion. Exp Dermatol 15:265-82
23. Grando SA, Bystryn JC, Chernyavsky AI et al. (2009) Apoptolysis: a novel mechanism of skin blistering in pemphigus vulgaris linking the apoptotic pathways to basal cell shrinkage and suprabasal acantholysis. Exp Dermatol 18:764-70
24. Hsueh K-C, Lin Y-J, Chang J-S et al. (2010) BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children. Eur J Ped 169:713-9
25. Jandrig B, Seitz S, Hinzmann B et al. (2004) ST18 is a breast cancer tumor suppressor gene at human chromosome 8q11.2. Oncogene 23:9295-302 (Pubitemid 40069700)
26. Javor J, Chmurova N, Parnicka Z et al. (2009) TNF-a and IL-10 gene polymorphisms show a weak association with pemphigus vulgaris in the Slovak population. J Eur Acad Dermatol Venereol 24:65-8
27. Jin Y, Birlea SA, Fain PR et al. (2011) Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. J Invest Dermatol 131:1308-12
28. Juyal G, Prasad P, Senapati S et al. (2011) An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north indians. PLoS ONE 6:e16565
29. London B, Michalec M, Mehdi H et al. (2007) Mutation in glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 116:2260-8 (Pubitemid 350100331)
30. Makiyama T, Akao M, Haruna Y et al. (2008) Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome. Circ J 72:1705-6
31. Mimouni D, Bar H, Gdalevich M et al. (2008) Pemphigus - analysis of epidemiological factors in 155 patients. J Eur Acad Dermatol Venereol 22:1232-5
32. Miyagawa S, Niizeki H, Yamashina Y et al. (2002) Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asian alleles of the HLA-B15 family. Br J Dermatol 146:52-8 (Pubitemid 34158408)
33. Narbutt J, Lukamowicz J, Bogaczewicz J et al. (2008) Serum concentration of interleukin-6 is increased both in active and remission stages of pemphigus vulgaris. Mediators Inflamm 2008:875394
34. Okuyama R, Tagami H, Aiba S (2008) Notch signaling: its role in epidermal homeostasis and in the pathogenesis of skin diseases. J Dermatol Sci 49:187-94 (Pubitemid 351179207)
35. Orlov MD, Chernyavsky AI, Arredondo J et al. (2006) Synergistic actions of pemphigus vulgaris IgG, Fas-ligand and tumor necrosis factor-alpha during induction of basal cell shrinkage and acantholysis. Autoimmunity 39:557-62 (Pubitemid 44768924)
36. Price AL, Patterson NJ, Plenge RM et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-9 (Pubitemid 44141658)
37. Purcell S, Neale B, Todd-Brown K et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-75 (Pubitemid 47330214)
38. R Development Core Team (2010) R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing: Vienna, Austria. ISBN 3-900051-07-0, http://www.R-project.org
39. Salonen JT, Uimari P, Aalto JM et al. (2007) Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium. Am J Hum Genet 81:338-45 (Pubitemid 47236080)
40. Schmidt E, Waschke J (2009) Apoptosis in pemphigus. Autoimmunity Rev 8:533-7
41. Shams S, Amirzargar AA, Yousefi M et al. (2009) HLA class II (DRB, DQA1 and DQB1) allele and haplotype frequencies in the patients with pemphigus vulgaris. J Clin Immunol 29:175-9
42. Shifman S, Darvasi A (2001) The value of isolated populations. Nat Genet 28:309-10
43. Shifman S, Kuypers J, Kokoris M et al. (2003) Linkage disequilibrium patterns of the human genome across populations. Hum Mol Genet 12:771-6 (Pubitemid 36416963)
44. Simmonds MJ, Heward JM, Barrett JC et al. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position β74. Clin Endocrinol 65:429-32 (Pubitemid 44414264)
45. Slomov E, Loewenthal R, Goldberg I et al. (2003) Pemphigus vulgaris in Jewish patients is associated with HLA-A region genes: mapping by microsatellite markers. Hum Immunol 64:771-9 (Pubitemid 36927640)
46. Slomov E, Loewenthal R, Korostishevsky M et al. (2005) Pemphigus vulgaris is associated with the transporter associated with antigen processing (TAP) system. Hum Immunol 66:1213-22
47. Stanley JR, Amagai M (2006) Pemphigus, bullous impetigo, and the staphylococcal scalded-skin syndrome. N Engl J Med 355:1800-10 (Pubitemid 44631364)
48. Tron F, Gilbert D, Mouquet H et al. (2005) Genetic factors in pemphigus. J Autoimmun 24:319-28 (Pubitemid 40775856)
49. Tunca M, Musabak U, Sagkan RI et al. (2010) Association of human leukocyte antigen class II alleles with pemphigus vulgaris in a Turkish population. J Dermatol 37:246-50
50. Yang J, Siqueira MF, Behl Y et al. (2008) The transcription factor ST18 regulates proapoptotic and proinflammatory gene expression in fibroblasts. FASEB J 22:3956-67
51. Zagorodniuk I, Weltfriend S, Shtruminger L et al. (2005) A comparison of antidesmoglein antibodies and indirect immunofluorescence in the serodiagnosis of pemphigus vulgaris. Int J Dermatol 44:541-4 (Pubitemid 40960113)