结节性骨关节炎遗传早现的证据。
Evidence for genetic anticipation in nodal osteoarthritis.
作者信息
Wright G D, Regan M, Deighton C M, Wallis G, Doherty M
机构信息
Department of Rheumatology, City Hospital, Nottingham.
出版信息
Ann Rheum Dis. 1998 Sep;57(9):524-6. doi: 10.1136/ard.57.9.524.
OBJECTIVE
Evidence was sought for genetic anticipation (disease occurring at an earlier age in subsequent generations, with increasing severity) in nodal osteoarthritis (NOA).
METHODS
Age at symptom onset and disease severity was compared within 30 parent/offspring pairs with NOA. Correlation between the offspring age of disease onset and the parental age at conception was also assessed.
RESULTS
The age at onset of nodal symptoms was earlier in the offspring (43 years (95% confidence intervals (CI) 38 to 47) v 61 (CI 58 to 65); mean difference 18 years (CI 13 to 22): p < 0.001) as was larger joint symptom onset (48 years (CI 41 to 55) v 67 (CI 61 to 73); mean difference 20 years (CI 13 to 27): p < 0.01). A negative correlation existed between age of offspring symptom onset and parental age at conception. Fifteen (50%) offspring had similar or more extensive disease than their parents.
CONCLUSIONS
These results suggest genetic anticipation occurs in NOA and if confirmed a search for trinucleotide repeats is warranted.
目的
探寻结节性骨关节炎（NOA）中遗传早现（疾病在后代中发病年龄提前且病情加重）的证据。
方法
比较30对患NOA的父母/子女对的症状发作年龄和疾病严重程度。还评估了后代发病年龄与父母受孕年龄之间的相关性。
结果
后代的结节症状发作年龄更早（43岁（95%置信区间（CI）38至47）对61岁（CI 58至65）；平均差异18岁（CI 13至22）：p<0.001），较大关节症状发作也是如此（48岁（CI 41至55）对67岁（CI 61至73）；平均差异20岁（CI 13至27）：p<0.01）。后代症状发作年龄与父母受孕年龄之间存在负相关。15名（50%）后代的疾病与父母相似或更广泛。
结论
这些结果表明NOA中存在遗传早现，如果得到证实，有必要寻找三核苷酸重复序列。
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