FAMILIAL VERSUS SPORADIC ANKYLOSING-SPONDYLITIS 2 DIFFERENT DISEASES
FAMILIAL VERSUS SPORADIC ANKYLOSING-SPONDYLITIS 2 DIFFERENT DISEASES
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DOI：
10.1002/art.1780360515
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发表时间：
1993-05-01
影响因子：
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通讯作者：
WILL, R
中科院分区：
文献类型：
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作者：
CALIN, A;KENNEDY, LG;WILL, R
Objective.明确家族性与散发性强直性脊柱炎（AS）易感基因或严重程度基因的潜在差异和可能作用。研究了320例AS患者：160例有AS一级亲属（家族性），160例年龄和性别匹配的对照组没有一级亲属（散发性）。采用生理、心理和社会功能指数（关节炎影响测量量表[AIMS]）和脊柱活动度评估来评估两组患者的疾病表现。通过所有测量评估，家族性疾病明显轻于散发性疾病，脊柱活动度评分（平均4.08对4.65，P < 0.038），AIMS总体影响评分（平均2.63 vs 3.59，P = 0.002），AIMS体力活动评分AIMS社会功能评分（4.02 vs 4.60，P = 0.023）和AIMS疼痛评分（4.15 vs 5.33，P = 0.002）。AS在高危家族中的更高患病率可以解释为在这些家族中发生更多的AS“易感性"基因，而在散发性AS患者中观察到的更严重的疾病是由于存在更多的”严重性"基因而不是“易感性"基因。
Objective. To define potential differences and the possible contribution of susceptibility or severity genes in familial versus sporadic ankylosing spondylitis (AS).Methods. Three hundred twenty patients with AS were studied: 160 who had first-degree relatives with AS (familial) and 160 age- and sex-matched controls who had no first-degree relative with the disease (sporadic). Disease expression in the two groups was evaluated using an index of physical, psychological, and social functioning (the Arthritis Impact Measurement Scales [AIMS]) and an assessment of spinal mobility.Results. Familial disease was significantly milder than sporadic disease as assessed by all measures, e.g., spinal mobility score (mean 4.08 versus 4.65, P < 0.038), AIMS overall impact score (mean 2.63 versus 3.59, P = 0.002), AIMS physical activity score (4.19 versus 5.10 [P = 0.004]), AIMS social function score (4.02 versus 4.60, P = 0.023), and AIMS pain score (4.15 versus 5.33, P = 0.002).Conclusion. The greater prevalence of AS in at-risk families may be explained by the occurrence of more AS ''susceptibility'' genes in those families, whereas the more severe disease, seen in patients with sporadic AS, is conferred by the presence of more ''severity'' genes than ''susceptibility'' genes.