Identification of MAMDC1 as a candidate susceptibility gene for Systemic Lupus Erythematosus (SLE)

PLoS ONE

Volumn 4, Issue 12, 2009, Pages

  Hellquist, Anna ^a   Zucchelli, Marco ^a   Lindgren, Cecilia M ^b,c   Saarialho Kere, Ulpu ^d,e   Järvinen, Tiina M ^d   Koskenmies, Sari ^d   Julkunen, Heikki ^f   Onkamo, Päivi ^d   Skoog, Tiina ^a,e   Panelius, Jaana ^d   Räisänen Sokolowski, Anne ^f   Hasan, Taina ^g   Widen, Elisabeth ^d   Gunnarson, Iva ^h   Svenungsson, Elisabet ^h   Padyukov, Leonid ^h   Assadi, Ghazaleh ^a   Berglind, Linda ^h   Mäkelä, Ville Veikko ^h   Kivinen, Katja ⁱ   Wong, Andrew ^j   Graham, Deborah S Cunningham ^j   Vyse, Timothy J ^j   D'Amato, Mauro ^a   Kere, Juha ^a,d,h   more..

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF HELSINKI   (Finland)

^e STOCKHOLM SÖDER HOSPITAL   (Sweden)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g TAMPERE UNIVERSITY HOSPITAL   (Finland)

^h KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

ⁱ WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^j HAMMERSMITH HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; GENE PRODUCT; IMMUNOGLOBULIN SUPERFAMILY; MAM DOMAIN CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2 PROTEIN; MESSENGER RNA; PROTEIN MAMDC1; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ARTICLE; CASE CONTROL STUDY; CELL ADHESION; CELL MIGRATION; CELL STIMULATION; CELL TYPE; CHROMOSOME 14Q; COHORT ANALYSIS; CONTROLLED STUDY; FINLAND; GENE EXPRESSION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; INTRON; MAJOR CLINICAL STUDY; MONOCYTE; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; SYSTEMIC LUPUS ERYTHEMATOSUS; TISSUE; UNITED KINGDOM; UPREGULATION;

CELL LINE; CHROMOSOMES, HUMAN, PAIR 14; CYTOKINES; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GPI-LINKED PROTEINS; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MONOCYTES; NEURAL CELL ADHESION MOLECULES; ODDS RATIO; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 77949513958     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0008037     Document Type: Article

References (60)

1. Danchenko N, Satia JA, Anthony MS (2006) Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Lupus 15: 308-318.
2. Deapen D, Escalante A, Weinrib L, Horwitz D, Bachman B, et al. (1992) A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum 35: 311-318.
3. Molina V, Shoenfeld Y (2005) Infection, vaccines and other environmental triggers of autoimmunity. Autoimmunity 38: 235-245.
4. Hochberg MC (1987) The application of genetic epidemiology to systemic lupus erythematosus. J Rheumatol 14: 867-869.
5. Tsao BP (2004) Update on human systemic lupus erythematosus genetics. Curr Opin Rheumatol 16: 513-521.
6. Harley JB, Kelly JA, Kaufman KM (2006) Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol 28: 119-130.
7. Rhodes B, Vyse TJ (2008) The genetics of SLE: an update in the light of genome-wide association studies. Rheumatology (Oxford) 47(11): 1603-11.
8. Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA (2009) Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 10(5): 285-90.
9. Moser KL, Kelly JA, Lessard CJ, Harley JB (2009) Recent insights into the genetic basis of systemic lupus erythematosus. Genes Immun 10(5): 373-9.
10. Criswell LA (2008) The genetic contribution to systemic lupus erythematosus. Bull NYU Hosp Jt Dis 66: 176-183.
11. Lee YH, Nath SK (2005) Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. Hum Genet 118: 434-443.
12. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, et al. (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40: 204-210.
13. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, et al. (2008) Association of Systemic Lupus Erythematosus with C8orf13-BLK and ITGAM- ITGAX. N Engl J Med 358(9): 900-9.
14. Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, et al. (2008) Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 40(9): 1059-61.
15. Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, et al. (2008) Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 40: 211-216.
16. Koskenmies S, Lahermo P, Julkunen H, Ollikainen V, Kere J, et al. (2004) Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE. J Med Genet 41: e2-5.
17. Koskenmies S, Widen E, Onkamo P, Sevon P, Julkunen H, et al. (2004) Haplotype associations define target regions for susceptibility loci in systemic lupus erythematosus. Eur J Hum Genet 12: 489-494.
18. Gaffney PM, Kearns GM, Shark KB, Ortmann WA, Selby SA, et al. (1998) A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A 95: 14875-14879.
19. Shai R, Quismorio FP Jr, Li L, Kwon OJ, Morrison J, et al. (1999) Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet 8: 639-644.
20. Zhou X, Tan FK, Wang N, Xiong M, Maghidman S, et al. (2003) Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence. Arthritis Rheum 48: 2585-2592.
21. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25: 115-121.
22. Toivonen HT, Onkamo P, Vasko K, Ollikainen V, Sevon P, et al. (2000) Data mining applied to linkage disequilibrium mapping. Am J Hum Genet 67: 133-145.
23. Zdobnov EM, Apweiler R (2001) InterProScan-an integration platform for the signature-recognition methods in InterPro. Bioinformatics 17: 847-848.
24. Eisenhaber B, Bork P, Eisenhaber F (1999) Prediction of potential GPI- modification sites in proprotein sequences. J Mol Biol 292: 741-758.
25. Bendtsen JD, Nielsen H, von Heijne G, Brunak S (2004) Improved prediction of signal peptides: SignalP 3.0. J Mol Biol 340: 783-795.
26. Diaz-Lopez A, Rivas C, Iniesta P, Moran A, Garcia-Aranda C, et al. (2005) Characterization of MDGA1, a novel human glycosylphosphatidylinositol-anchored protein localized in lipid rafts. Exp Cell Res 307: 91-99.
27. De Juan C, Iniesta P, Gonzalez-Quevedo R, Moran A, Sanchez-Pernaute A, et al. (2002) Genomic organization of a novel glycosylphosphatidylinositol MAM gene expressed in human tissues and tumors. Oncogene 21: 3089-3094.
28. Litwack ED, Babey R, Buser R, Gesemann M, O'Leary DD (2004) Identification and characterization of two novel brain-derived immunoglobulin superfamily members with a unique structural organization. Mol Cell Neurosci 25: 263-274.
29. Walsh FS, Doherty P (1997) Neural cell adhesion molecules of the immunoglobulin superfamily: role in axon growth and guidance. Annu Rev Cell Dev Biol 13: 425-456.
30. Aringer M, Smolen JS (2003) SLE - Complex cytokine effects in a complex autoimmune disease: tumor necrosis factor in systemic lupus erythematosus. Arthritis Res Ther 5: 172-177.
31. Fairhurst AM, Wandstrat AE, Wakeland EK (2006) Systemic lupus erythematosus: multiple immunological phenotypes in a complex genetic disease. Adv Immunol 92: 1-69.
32. Theofilopoulos AN, Koundouris S, Kono DH, Lawson BR (2001) The role of IFN-gamma in systemic lupus erythematosus: a challenge to the Th1/Th2 paradigm in autoimmunity. Arthritis Res 3: 136-141.
33. Ohmori Y, Schreiber RD, Hamilton TA (1997) Synergy between interferon- gamma and tumor necrosis factor-alpha in transcriptional activation is mediated by cooperation between signal transducer and activator of transcription 1 and nuclear factor kappaB. J Biol Chem 272: 14899-14907.
34. van den Oord EJ, Kuo PH, Hartmann AM, Webb BT, Moller HJ, et al. (2008) Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism. Arch Gen Psychiatry 65: 1062-1071.
35. Hettema JM, van den Oord EJ, An SS, Kendler KS, Chen X (2009) Follow-up association study of novel neuroticism gene MAMDC1. Psychiatr Genet 19: 213-214.
36. Costa PT Jr, McCrae RR (1980) Influence of extraversion and neuroticism on subjective well-being: happy and unhappy people. J Pers Soc Psychol 38: 668-678.
37. Brandes M, Bienvenu OJ (2006) Personality and anxiety disorders. Curr Psychiatry Rep 8: 263-269.
38. Widiger TA, Trull TJ (1992) Personality and psychopathology: an application of the five-factor model. J Pers 60: 363-393.
39. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, et al. (2009) Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5: e1000536.
40. Pallis M, Robson DK, Haskard DO, Powell RJ (1993) Distribution of cell adhesion molecules in skeletal muscle from patients with systemic lupus erythematosus. Ann Rheum Dis 52: 667-671.
41. McHale JF, Harari OA, Marshall D, Haskard DO (1999) TNF-alpha and IL-1 sequentially induce endothelial ICAM-1 and VCAM-1 expression in MRL/lpr lupus-prone mice. J Immunol 163: 3993-4000.
42. Haraldsen G, Kvale D, Lien B, Farstad IN, Brandtzaeg P (1996) Cytokine- regulated expression of E-selectin, intercellular adhesion molecule-1 (ICAM-1), and vascular cell adhesion molecule-1 (VCAM-1) in human microvascular endothelial cells. J Immunol 156: 2558-2565.
43. Belmont HM, Buyon J, Giorno R, Abramson S (1994) Up-regulation of endothelial cell adhesion molecules characterizes disease activity in systemic lupus erythematosus. The Shwartzman phenomenon revisited. Arthritis Rheum 37: 376-383.
44. Norman MU, Hickey MJ (2005) Mechanisms of lymphocyte migration in autoimmune disease. Tissue Antigens 66: 163-172.
45. McMurray RW (1996) Adhesion molecules in autoimmune disease. Semin Arthritis Rheum 25: 215-233.
46. Sfikakis PP, Mavrikakis M (1999) Adhesion and lymphocyte costimulatory molecules in systemic rheumatic diseases. Clin Rheumatol 18: 317-327.
47. Svenungsson E, Cederholm A, Jensen-Urstad K, Fei GZ, de Faire U, et al. (2008) Endothelial function and markers of endothelial activation in relation to cardiovascular disease in systemic lupus erythematosus. Scand J Rheumatol 37: 352-359.
48. Dunne JL, Collins RG, Beaudet AL, Ballantyne CM, Ley K (2003) Mac-1, but not LFA-1, uses intercellular adhesion molecule-1 to mediate slow leukocyte rolling in TNF-alpha-induced inflammation. J Immunol 171: 6105-6111.
49. Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, et al. (2009) Evaluation of imputation-based association in and around the integrin- alpha-M (ITGAM) gene and replication of robust association between a non- synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet 18: 1171-1180.
50. Koskenmies S, Widen E, Kere J, Julkunen H (2001) Familial systemic lupus erythematosus in Finland. J Rheumatol 28: 758-760.
51. Koskenmies S, Jarvinen T, Onkamo P, Panelius J, Tuovinen U, et al. (2008) Clinical and laboratory characteristics of Finnish lupus erythematosus patients with cutaneous manifestations. Lupus 17: 337-347.
52. Russell AI, Cunninghame Graham DS, Shepherd C, Roberton CA, Whittaker J, et al. (2004) Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus. Hum Mol Genet 13: 137-147.
53. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, et al. (1982) The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 25: 1271-1277.
54. Svenungsson E, Gunnarsson I, Fei GZ, Lundberg IE, Klareskog L, et al. (2003) Elevated triglycerides and low levels of high-density lipoprotein as markers of disease activity in association with up-regulation of the tumor necrosis factor alpha/tumor necrosis factor receptor system in systemic lupus erythematosus. Arthritis Rheum 48: 2533-2540.
55. Jurinke C, van den Boom D, Cantor CR, Koster H (2002) Automated genotyping using the DNA MassArray technology. Methods Mol Biol 187: 179-192.
56. O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63: 259-266.
57. Nicodemus KK (2008) Catmap: case-control and TDT meta-analysis package. BMC Bioinformatics 9: 130.
58. Nyholt DR (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 74: 765-769.
59. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
60. Chenna R, Sugawara H, Koike T, Lopez R, Gibson TJ, et al. (2003) Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res 31: 3497-3500.