Parent-of-origin effect in multiple sclerosis: observations in half-siblings
Parent-of-origin effect in multiple sclerosis: observations in half-siblings
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DOI：
10.1016/s0140-6736(04)16304-6
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发表时间：
2004-05-29
期刊：
影响因子：
168.9
通讯作者：
Risch, N
中科院分区：
文献类型：
--
作者：
Ebers, GC;Sadovnick, AD;Risch, N
多发性硬化症是一种复杂的特征，其后代的发病率比一般人群高20-50倍。由于大多数病例是偶发的，因此很难对原生父母的影响进行筛查。我们比较了同父异母兄弟姐妹的复发风险。在加拿大多发性硬化症诊所的1567例同父异母的兄弟姐妹中，我们记录了3436例同父异母的兄弟姐妹和2706例全兄妹。经年龄调整的全同胞风险为3.11%。相比之下，同一家庭中同父异母兄弟姐妹的风险显著降低，为1.89% (chi(2)检验，p=0.006)，但如果家族风险仅仅是多基因的，则高于预期。对于母亲同父异母的兄弟姐妹，风险为2.35%（1859年34名受影响的兄弟姐妹），父亲同父异母的兄弟姐妹（1577人中15名）的风险为1.31%,（p=0.048）。这种风险的差异表明，在多发性硬化症的易感性中，母亲的原生父母的影响。
Multiple sclerosis is a complex trait in which occurrence rates in offspring are 20-50-fold greater than in the general population. Parent-of-origin effects have been difficult to screen for, since most cases are sporadic. We have compared recurrence risks in half-siblings with respect to their parent in common. Of the 1567 index cases with half-siblings in multiple sclerosis clinics across Canada, we recorded 3436 half-siblings and 2706 full-siblings. Age-adjusted full-sibling risk was 3.11%. By contrast, half-sibling risk in the same families was significantly lower at 1.89% (chi(2) test, p=0.006), but higher than expected if familial risk was simply polygenic. For maternal half-siblings, the risk was 2.35% (34 affected siblings of 1859), and 1.31% for paternal half-siblings (15 of 1577), (p=0.048). The difference in risk suggests a maternal parent-of-origin effect in multiple sclerosis susceptibility.