Familiality and co-occurrence of clinical features of systemic lupus erythematosus.
Familiality and co-occurrence of clinical features of systemic lupus erythematosus.
复制标题
系统性红斑狼疮临床特征的家族性和共现性。
DOI：
10.1002/art.10519
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发表时间：
2002
影响因子：
--
通讯作者：
Cantor,
中科院分区：
文献类型：
--
作者：
Tsao,BettyP;Grossman,JenniferM;Riemekasten,Gabriela;Strong,Noel;Kalsi,Jatinderpal;Wallace,DanielJ;Chen,Chung-Jen;Lau,ChakS;Ginzler,EllenM;Goldstein,Rose;Kalunian,KennethC;Harley,JohnB;Arnett,FrankC;Hahn,BevraH;Cantor,
ObjectiveTo evaluate familiality of 15 clinical and laboratory features in systemic lupus erythematosus (SLE)–affected sibpairs, and to estimate correlations with the age at SLE diagnosis in affected sibpairs and parent–offspring pairs.MethodsConcordance rates and sibling risk ratios were used as indicators of familiality for 15 manifestations of SLE. Pearson's correlations and pairedt‐tests were used to compare the age at SLE diagnosis in affected sibpairs and in parent–offspring pairs.ResultsIncreased sibling risk ratios (1.9–3.9) for thrombocytopenia, discoid rash, neurologic disorder (defined as seizure or psychosis), and hemolytic anemia were observed in 159 SLE‐affected sibpairs. Among these clinical features, paired expression of hemolytic anemia plus thrombocytopenia and hemolytic anemia plus neurologic disorder appeared to be more frequent in 709 SLE patients than would be expected by chance (P< 0.00001 andP< 0.007, respectively). The ratio of the presence of both hemolytic anemia and neurologic disorder was ∼13 times higher in the younger affected sib than in the older affected sib (P< 0.02). Familiality of patient age at SLE diagnosis, as observed by relative correlations, was greater in 125 affected sibpairs (r = 0.67,P< 0.0001) than in 37 affected parent–offspring pairs (r = 0.47,P= 0.003). The median ± SD age at SLE diagnosis was significantly lower in offspring (21.5 ± 10.1 years) than in their parents (41.6 ± 15.8 years) (P< 0.0001) but was not different in sibpairs. The combined non‐Caucasian sibpairs had a younger mean age at SLE diagnosis compared with Caucasian sibpairs (P= 0.014).ConclusionEvidence for familiality of thrombocytopenia, discoid rash, neurologic disorder, hemolytic anemia, and co‐occurring neurologic disorder plus hemolytic anemia in SLE was observed in 159 affected sibpairs. Familiality of the age at SLE diagnosis in relative pairs suggests that shared genes and/or shared environmental exposures impact disease susceptibility. Shared immediate environmental triggers appear less compelling, because the average time between dates of diagnosis was 11 years in parent–offspring pairs and 7.5 years in affected sibpairs. The significantly earlier age at disease diagnosis in offspring compared with their parents suggests that some forms of anticipation might play a role in susceptibility to SLE. Stratifying families by subphenotypes that are familial may reduce heterogeneity and facilitate identification of genetic risk factors for SLE.
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溶血性贫血和血小板减少性紫癜：系统性红斑狼疮的两个相关亚型。
影响因子：
3.9
作者：
M. Alger;D. Alarcon;S. Rivero
通讯作者：
S. Rivero
影响因子：
3.5
作者：
Shai, R;Quismorio, FP;Jacob, CO
通讯作者：
Jacob, CO
DOI：
10.1073/pnas.95.25.14869
发表时间：
1998-12-08
影响因子：
11.1
作者：
Moser, KL;Neas, BR;Harley, JB
通讯作者：
Harley, JB
影响因子：
--
作者：
D. Deapen;A. Escalante;Lisa Weinrib;D. Horwitz;Barbara Bachman;P. Roy-burman;A. Walker;T. Mack-T.-M
通讯作者：
D. Deapen;A. Escalante;Lisa Weinrib;D. Horwitz;Barbara Bachman;P. Roy-burman;A. Walker;T. Mack-T.-M
系统性红斑狼疮中的血细胞减少症。
影响因子：
3.9
作者：
M. Delezé;Donato Alarcón;C. V. Oria;J. Sánchez;L. Fernández;L. Gómez;S. P. D. Leon
通讯作者：
S. P. D. Leon