Improved performance of epidemiologic and genetic risk models for rheumatoid arthritis serologic phenotypes using family history

Annals of the Rheumatic Diseases

Volumn 74, Issue 8, 2015, Pages 1522-1529

  Sparks, Jeffrey A ^a   Chen, Chia Yen ^a   Jiang, Xia ^b   Askling, Johan ^c   Hiraki, Linda T ^d   Malspeis, Susan ^a   Klareskog, Lars ^c   Alfredsson, Lars ^b,e   Costenbader, Karen H ^a   Karlson, Elizabeth W ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b KAROLINSKA INSTITUTE   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^e STOCKHOLM COUNTY COUNCIL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC CITRULLINATED PEPTIDE ANTIBODY; HLA DRB1 ANTIGEN; RHEUMATOID FACTOR; 2-AMINO-5-HYDROXY-4-OXOPENTANOIC ACID; AMINOLEVULINIC ACID; AUTOANTIBODY; CYCLIC CITRULLINATED PEPTIDE; CYCLOPEPTIDE;

ADULT; AGED; ALCOHOL CONSUMPTION; AREA UNDER THE CURVE; ARTICLE; BODY MASS; CASE CONTROL STUDY; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; EDUCATIONAL STATUS; EPIDEMIOLOGICAL DATA; FAMILY HISTORY; FEMALE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; MAJOR CLINICAL STUDY; PARITY; PHENOTYPE; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; RHEUMATOID ARTHRITIS; RISK ASSESSMENT; RISK FACTOR; SEROTYPE; SMOKING; VALIDATION STUDY; ANALOGS AND DERIVATIVES; ARTHRITIS, RHEUMATOID; BLOOD; DRINKING BEHAVIOR; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; MALE; MIDDLE AGED; STATISTICAL MODEL;

AGED; ALCOHOL DRINKING; AMINOLEVULINIC ACID; AREA UNDER CURVE; ARTHRITIS, RHEUMATOID; AUTOANTIBODIES; BODY MASS INDEX; FEMALE; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOGISTIC MODELS; MALE; MIDDLE AGED; PEPTIDES, CYCLIC; PHENOTYPE;

EID: 84940387908     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2013-205009     Document Type: Article

References (55)

1. Frisell T, Holmqvist M, Kallberg H, et al. Familial risks and heritability of rheumatoid arthritis: role of rheumatoid factor/anti-citrullinated protein antibody status, number and type of affected relatives, sex and age. Arthritis Rheum 2013;65:2773-82.
2. Majka DS, Holers VM. Can we accurately predict the development of rheumatoid arthritis in the preclinical phase Arthritis Rheum 2003;48:2701-5.
3. Sugiyama D, Nishimura K, Tamaki K, et al. Impact of smoking as a risk factor for developing rheumatoid arthritis: a meta-Analysis of observational studies. Ann Rheum Dis 2010;69:70-81.
4. Costenbader KH, Feskanich D, Mandl LA, et al. Smoking intensity, duration and cessation and the risk of rheumatoid arthritis in women. Am J Med 2006;119:503. e1-9.
5. Kallberg H, Jacobsen S, Bengtsson C, et al. Alcohol consumption is associated with decreased risk of rheumatoid arthritis: results from two Scandinavian case-control studies. Ann Rheum Dis 2009;68:222-7.
6. Wesley A, Bengtsson C, Elkan AC, et al. Association between body mass index and anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis: results from a population-based case-control study. Arthritis Care Res 2013;65:107-12.
7. Lahiri M, Morgan C, Symmons DP, et al. Modifiable risk factors for RA: prevention, better than cure Rheumatology 2012;51:499-512.
8. Pedersen M, Jacobsen S, Klarlund M, et al. Environmental risk factors differ between rheumatoid arthritis with and without auto-Antibodies against cyclic citrullinated peptides. Arthritis Res Ther 2006;8:R133.
9. Hazes JM, Dijkmans BA, Vandenbroucke JP, et al. Lifestyle and the risk of rheumatoid arthritis: cigarette smoking and alcohol consumption. Ann Rheum Dis 1990;49:980-2.
10. Cerhan JR, Saag KG, Criswell LA, et al. Blood transfusion, alcohol use and anthropometric risk factors for rheumatoid arthritis in older women. J Rheumatol 2002;29:246-54.
11. Spector TD, Roman E, Silman AJ. The pill, parity and rheumatoid arthritis. Arthritis Rheum 1990;33:782-9.
12. Jorgensen C, Picot MC, Bologna C, et al. Oral contraception, parity, breast feeding and severity of rheumatoid arthritis. Ann Rheum Dis 1996;55:94-8.
13. Karlson EW, Mandl LA, Hankinson SE, et al. Do breast-feeding and other reproductive factors influence future risk of rheumatoid arthritis Results from the Nurses' Health Study. Arthritis Rheum 2004;50:3458-67.
14. Karlson EW, Deane K. Environmental and gene-environment interactions and risk of rheumatoid arthritis. Rheum Dis Clin North Am 2012;38:405-26.
15. Bengtsson C, Nordmark B, Klareskog L, et al. Socioeconomic status and the risk of developing rheumatoid arthritis: results from the Swedish EIRA study. Ann Rheum Dis 2005;64:1588-94.
16. Kallberg H, Ding B, Padyukov L, et al. Smoking is a major preventable risk factor for rheumatoid arthritis: estimations of risks after various exposures to cigarette smoke. Ann Rheum Dis 2011;70:508-11.
17. Orellana C, Wedren S, Kallberg H, et al. Parity and the risk of developing rheumatoid arthritis: results from the Swedish Epidemiological Investigation of Rheumatoid Arthritis study. Ann Rheum Dis 2014;73:752-5.
18. Eyre S, Bowes J, Diogo D, et al. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet 2012;44:1336-40.
19. Stahl EA, Raychaudhuri S, Remmers EF, et al. Genome-wide association study meta-Analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet 2010;42:508-14.
20. Raychaudhuri S, Remmers EF, Lee AT, et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 2008;40:1216-23.
21. Fernando MM, Stevens CR, Walsh EC, et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 2008;4:e1000024.
22. Begovich AB, Carlton VE, Honigberg LA, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004;75:330-7.
23. Karlson EW, Chang SC, Cui J, et al. Gene-environment interaction between HLA-DRB1 shared epitope and heavy cigarette smoking in predicting incident rheumatoid arthritis. Ann Rheum Dis 2010;69:54-60.
24. Remmers EF, Plenge RM, Lee AT, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007;357:977-86.
25. Raychaudhuri S, Thomson BP, Remmers EF, et al. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet 2009;41:1313-18.
26. Padyukov L, Silva C, Stolt P, et al. A gene-environment interaction between smoking and shared epitope genes in HLA-DR provides a high risk of seropositive rheumatoid arthritis. Arthritis Rheum 2004;50:3085-92.
27. Klareskog L, Stolt P, Lundberg K, et al. A new model for an etiology of rheumatoid arthritis: smoking may trigger HLA-DR (shared epitope)-restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum 2006;54:38-46.
28. Keenan BT, Chibnik LB, Cui J, et al. Effect of interactions of glutathione S-transferase T1, M1 and P1 and HMOX1 gene promoter polymorphisms with heavy smoking on the risk of rheumatoid arthritis. Arthritis Rheum 2010;62:3196-210.
29. Plenge RM, Cotsapas C, Davies L, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007;39:1477-82.
30. Plenge RM, Seielstad M, Padyukov L, et al. TRAF1-C5 as a risk locus for rheumatoid arthritis-A genomewide study. N Engl J Med 2007;357:1199-209.
31. Frisell T, Holmqvist M, Kallberg H, et al. Familial risks and heritability of RA in relation to RF/ACPA status, number and type of affected relatives, sex and age. Arthritis Rheum 2013;65:2773-82.
32. Hemminki K, Li X, Sundquist J, et al. Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions. Arthritis Rheum 2009;60:661-8.
33. Somers EC, Antonsen S, Pedersen L, et al. Parental history of lupus and rheumatoid arthritis and risk in offspring in a nationwide cohort study: does sex matter Ann Rheum Dis 2013;72:525-9.
34. Deane KD, Norris JM, Holers VM. Preclinical rheumatoid arthritis: identification, evaluation and future directions for investigation. Rheum Dis Clin North Am 2010;36:213-41.
35. Gerlag DM, Raza K, van Baarsen LG, et al. EULAR recommendations for terminology and research in individuals at risk of rheumatoid arthritis: report from the Study Group for Risk Factors for Rheumatoid Arthritis. Ann Rheum Dis 2012;71:638-41.
36. de Hair MJ, Landewe RB, van de Sande MG, et al. Smoking and overweight determine the likelihood of developing rheumatoid arthritis. Ann Rheum Dis 2013;72:1654-8.
37. Karlson EW, Ding B, Keenan BT, et al. Association of environmental and genetic factors and gene-environment interactions with risk of developing rheumatoid arthritis. Arthritis Care Res 2013;65:1147-56.
38. Yarwood A, Han B, Raychaudhuri S, et al. A weighted genetic risk score using all known susceptibility variants to estimate rheumatoid arthritis risk. Ann Rheum Dis 2015;74:170-6.
39. Scott IC, Seegobin SD, Steer S, et al. Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking. PLoS Genet 2013;9:e1003808.
40. Karlson EW, Chibnik LB, Kraft P, et al. Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk. Ann Rheum Dis 2010;69:1077-85.
41. van der Helm-van Mil AH, Toes RE, Huizinga TW. Genetic variants in the prediction of rheumatoid arthritis. Ann Rheum Dis 2010;69:1694-6.
42. van der Helm-van Mil AH, Detert J, le Cessie S, et al. Validation of a prediction rule for disease outcome in patients with recent-onset undifferentiated arthritis: moving toward individualized treatment decision-making. Arthritis Rheum 2008;58: 2241-7.
43. van der Helm-van Mil AH, le Cessie S, van Dongen H, et al. A prediction rule for disease outcome in patients with recent-onset undifferentiated arthritis: how to guide individual treatment decisions. Arthritis Rheum 2007;56:433-40.
44. Lahiri M, Luben RN, Morgan C, et al. Using lifestyle factors to identify individuals at higher risk of inflammatory polyarthritis (results from the European Prospective Investigation of Cancer-Norfolk and the Norfolk Arthritis Register-the EPIC-2-NOAR Study). Ann Rheum Dis 2014;73:219-26.
45. Karlson EW, Sanchez-Guerrero J, Wright EA, et al. A connective tissue disease screening questionnaire for population studies. Ann Epidemiol 1995;5:297-302.
46. Arnett FC, Edworthy SM, Bloch DA, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988;31:315-24.
47. Chibnik LB, Mandl LA, Costenbader KH, et al. Comparison of threshold cutpoints and continuous measures of anti-cyclic citrullinated peptide antibodies in predicting future rheumatoid arthritis. J Rheumatol 2009;36:706-11.
48. Voigt LF, Koepsell TD, Nelson JL, et al. Smoking, obesity, alcohol consumption and the risk of rheumatoid arthritis. Epidemiology 1994;5:525-32.
49. Pencina MJ, D'Agostino RB Sr, D'Agostino RB Jr., et al. Evaluating the added predictive ability of a new marker: from area under the ROC curve to reclassification and beyond. Stat Med 2008;27:157-72; discussion 207-12.
50. de Onis M, Habicht JP. Anthropometric reference data for international use: recommendations from a World Health Organization Expert Committee. Am J Clin Nutr 1996;64:650-8.
51. Hosmer D, Lemeshow S. Applied logistic regression. 2nd edn. John Wiley & Sons, Inc. 2002:156-64.
52. Pencina MJ, D'Agostino RB Sr, Demler OV. Novel metrics for evaluating improvement in discrimination: net reclassification and integrated discrimination improvement for normal variables and nested models. Stat Med 2012;31:101-13.
53. Pencina MJ, D'Agostino RB Sr, Steyerberg EW. Extensions of net reclassification improvement calculations to measure usefulness of new biomarkers. Stat Med 2011;30:11-21.
54. Klareskog L, Malmstrom V, Lundberg K, et al. Smoking, citrullination and genetic variability in the immunopathogenesis of rheumatoid arthritis. Semin Immunol 2011;23:92-8.
55. Okada Y, Wu D, Trynka G, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 2014;506:376-81.