Mumford C J, Wood N W, Kellar-Wood H, Thorpe J W, Miller D H, Compston D A
University of Cambridge Neurology Unit, Addenbrooke's Hospital, UK.
Neurology. 1994 Jan;44(1):11-5. doi: 10.1212/wnl.44.1.11.
During a 27-month recruitment period, we identified 146 individuals with multiple sclerosis (MS) who have a twin. A single clinician interviewed and examined 105 pairs of twins, and we confirmed zygosity using minisatellite probes. Including two suspected cases, 11 of 44 (25%) monozygotic twin pairs were concordant compared with two of 61 (3%) dizygotic twin pairs--two of 33 (6%) like-sexed and zero of 28 (0%) opposite-sexed. MRI was performed in 64 of 105 co-twins, and showed abnormalities consistent with demyelination in 13% of monozygotic and 9% of dizygotic co-twins who were clinically unaffected. These findings are similar to the results of most previous studies of MS in twins in which zygosity was not unequivocally established and where the majority of clinically unaffected co-twins were not studied by MRI; the difference in concordance rates in monozygotic and dizygotic twins indicates a significant genetic component in the etiology of MS.
在为期27个月的招募期间，我们确定了146名患有多发性硬化症（MS）且有双胞胎兄弟姐妹的个体。由一名临床医生对105对双胞胎进行了访谈和检查，我们使用微卫星探针确定了其合子性。包括两例疑似病例，44对单卵双胞胎中有11对（25%）一致，而61对双卵双胞胎中有2对（3%）一致——33对同性双胞胎中有2对（6%），28对异性双胞胎中无一致情况（0%）。105对双胞胎中的64对进行了MRI检查，结果显示，在临床无病变的单卵双胞胎中有13%、双卵双胞胎中有9%出现了与脱髓鞘相符的异常。这些发现与之前大多数关于双胞胎多发性硬化症的研究结果相似，在这些研究中，合子性未明确确定，且大多数临床无病变的双胞胎未进行MRI检查；单卵和双卵双胞胎一致率的差异表明多发性硬化症病因中存在显著的遗传因素。
