Willer C J, Dyment D A, Risch N J, Sadovnick A D, Ebers G C
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom.
Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12877-82. doi: 10.1073/pnas.1932604100. Epub 2003 Oct 20.
Size and ascertainment constraints often limit twin studies to concordance comparisons between identical and fraternal twins. Here we report the final results of a longitudinal, population-based study of twins with multiple sclerosis (MS) in Canada. Bias was demonstrably minimized, and an estimated 75% of all Canadian MS twin pairs were ascertained, giving a sample sufficiently large (n = 370) to permit additional informative comparisons. Twinning was not found to affect prevalence, and twins with MS did not differ from nontwins for DR15 allele frequency nor for MS risk to their siblings. Probandwise concordance rates of 25.3% (SE +/- 4.4) for monozygotic (MZ), 5.4% (+/-2.8) for dizygotic (DZ), and 2.9% (+/-0.6) for their nontwin siblings were found. MZ twin concordance was in excess of DZ twin concordance. The excess concordance in MZ was derived primarily from like-sexed female pairs with a probandwise concordance rate of 34 of 100 (34 +/- 5.7%) compared with 3 of 79 (3.8 +/- 2.8%) for female DZ pairs. We did not demonstrate an MZ/DZ difference in males, although the sample size was small. We observed a 2-fold increase in risk to DZ twins over nontwin siblings of twins, but the difference was not significant.
样本量和确定标准的限制常常使双胞胎研究局限于同卵双胞胎与异卵双胞胎之间的一致性比较。在此,我们报告一项针对加拿大患有多发性硬化症(MS)双胞胎的纵向、基于人群研究的最终结果。偏差已被显著最小化,据估计,加拿大所有MS双胞胎对中有75%被确定,从而获得了一个足够大的样本(n = 370),以进行更多有意义的比较。未发现双胞胎现象会影响患病率,患有MS的双胞胎在DR15等位基因频率以及其兄弟姐妹患MS的风险方面与非双胞胎并无差异。发现同卵双胞胎(MZ)的先证者一致率为25.3%(标准误±4.4),异卵双胞胎(DZ)为5.4%(±2.8),其非双胞胎兄弟姐妹为2.9%(±0.6)。MZ双胞胎的一致性超过DZ双胞胎。MZ双胞胎中额外的一致性主要源于同性别的女性双胞胎对,其先证者一致率为100对中有34对(34±5.7%),而异卵双胞胎女性对为79对中有3对(3.8±2.8%)。尽管样本量较小,但我们未证明男性MZ/DZ双胞胎之间存在差异。我们观察到,与双胞胎的非双胞胎兄弟姐妹相比,DZ双胞胎的患病风险增加了2倍,但差异并不显著。