Juvenile rheumatoid arthritis affected sibpairs - Extent of clinical phenotype concordance

被引:33
作者
Moroldo, MB
Chaudhari, M
Shear, E
Thompson, SD
Glass, DN
Giannini, EH
机构
[1] Cincinnati Childrens Hosp, Med Ctr, Div Rheumatol, Cincinnati, OH 45229 USA
[2] Univ Cincinnati, Cincinnati, OH USA
来源
ARTHRITIS AND RHEUMATISM | 2004年 / 50卷 / 06期
关键词
D O I
10.1002/art.20292
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective. To investigate the clinical phenotypes and demographic characteristics of 183 affected sibling pairs (ASPs) with juvenile rheumatoid arthritis (JRA) and to determine whether there are differences between the clinical phenotypes of the ASP cohort compared with patients with sporadic disease and whether there is greater sharing of specific clinical features within versus between sibpairs. Methods. Details of the JRA Affected Sibpair Registry operations have been described previously. The frequencies of phenotypes in the 2 cohorts were tabulated, summary statistics were determined, and comparisons were made by chi-square test or t-test. Sibling risk, sibling risk ratios (lambda(s)), and odds ratios were calculated to assess familial aggregation of several different clinical manifestations. Results. The most common onset type among the 164 nontwin ASPs was pauciarticular (65% overall). Fifty-three percent of the ASPs were concordant for pauciarticular-onset JRA; 19% were concordant for a polyarticular disease onset. Among subjects with polyarticular-onset disease, significantly more joints were involved at onset in simplex patients than in ASPs (P = 0.008). The difference in age at JRA onset within sibpairs; (sibling 1 versus sibling 2) was not significantly different. ASPs developed disease at a mean real-time difference of 5.1 years apart. Familial aggregation was found for tenosynovitis (lambda(s) 29.5), leukocytosis (lambda(s) 25), rheumatoid factor (lambda(s) 11.0), anemia (lambda(s) 1.7), and antinuclear antibodies (lambda(s) 1.3). Conclusion. This study confirms the findings of earlier studies showing that a high proportion of ASPs overall show concordance of disease-onset type, except for the subset of patients with systemic disease, and that nontwin ASPs do not develop disease at the same point in real time. We conclude that JRA and its clinical manifestations do not differ substantially between ASPs and the simplex population. The exception is the number of affected joints at JRA onset among patients with polyarticular-onset disease. Familial aggregation of clinical features among ASPs adds strong evidence for a genetic background in this disease.
引用
收藏
页码:1928 / 1934
页数:7
相关论文
共 20 条
[1]  
Bowyer S, 1996, J RHEUMATOL, V23, P1968
[2]  
Bowyer SL, 2003, J RHEUMATOL, V30, P394
[3]   A STUDY OF CLASSIFICATION CRITERIA FOR A DIAGNOSIS OF JUVENILE RHEUMATOID-ARTHRITIS [J].
CASSIDY, JT ;
LEVINSON, JE ;
BASS, JC ;
BAUM, J ;
BREWER, EJ ;
FINK, CW ;
HANSON, V ;
JACOBS, JC ;
MASI, AT ;
SCHALLER, JG ;
FRIES, JF ;
MCSHANE, D ;
YOUNG, D .
ARTHRITIS AND RHEUMATISM, 1986, 29 (02) :274-281
[4]  
CLEMENS LE, 1985, J RHEUMATOL, V12, P108
[5]  
DENARDO BA, 1994, J RHEUMATOL, V21, P1553
[6]  
Glass DN, 1999, ARTHRITIS RHEUM-US, V42, P2261, DOI 10.1002/1529-0131(199911)42:11<2261::AID-ANR1>3.0.CO
[7]  
2-P
[8]   THE USE OF PREDICTED CONFIDENCE-INTERVALS WHEN PLANNING EXPERIMENTS AND THE MISUSE OF POWER WHEN INTERPRETING RESULTS [J].
GOODMAN, SN ;
BERLIN, JA .
ANNALS OF INTERNAL MEDICINE, 1994, 121 (03) :200-206
[9]  
Hosmer D. W., 1989, APPL LOGISTIC REGRES, DOI DOI 10.1097/00019514-200604000-00003
[10]   Screening the rheumatoid arthritis genome for susceptibility genes - A replication study and combined analysis of 512 multicase families [J].
Jawaheer, D ;
Seldin, MF ;
Amos, CI ;
Chen, WV ;
Shigeta, R ;
Etzel, C ;
Damle, A ;
Xiao, XL ;
Chen, D ;
Lum, RF ;
Kern, M ;
Criswell, LA ;
Albani, S ;
Nelson, JL ;
Clegg, DO ;
Pope, R ;
Schroeder, HW ;
Bridges, SL ;
Pisetsky, DS ;
Ward, R ;
Kastner, DL ;
Wilder, RL ;
Pincus, T ;
Callahan, LF ;
Flemming, D ;
Wener, MH ;
Gregersen, PK .
ARTHRITIS AND RHEUMATISM, 2003, 48 (04) :906-916