Silman A J, MacGregor A J, Thomson W, Holligan S, Carthy D, Farhan A, Ollier W E
ARC Epidemiology Research Unit, Manchester University Medical School.
Br J Rheumatol. 1993 Oct;32(10):903-7. doi: 10.1093/rheumatology/32.10.903.
We report the concordance rate for RA in a nationwide study of 91 monozygotic (MZ) and 112 dizygotic (DZ) pairs. Twin pairs were recruited from both a national media campaign and a 2-month prospective inquiry of all UK rheumatologists. Disease status was established following a structured clinical and serological appraisal, together with radiological assessment where necessary. Zygosity was confirmed using DNA fingerprinting. In all, 14 (15.4%) of the MZ and four (3.6%) of the DZ pairs were disease concordant (risk ratio: 4.3 95% CI 1.5 to 12.6). There was no difference in the concordance between the media and clinical derived twins. Further the excess MZ concordance persisted after adjusting for age, age at disease onset, sex and rheumatoid factor status. Analysing the data in relation to the timing of disease onset in the first affected twin showed that subsequent disease risk in the initially unaffected co-twins of the MZ affected probands increased with increasing duration of follow-up. We conclude that the overall MZ concordance at 15% is lower than the 30% figure normally quoted from a study some 30 years ago and sets a ceiling at the potential genetic contribution to disease susceptibility.
我们报告了一项针对91对同卵双胞胎(MZ)和112对异卵双胞胎(DZ)的全国性研究中类风湿关节炎(RA)的一致率。双胞胎对通过全国性媒体宣传活动以及对所有英国风湿病学家进行的为期2个月的前瞻性调查招募。疾病状态通过结构化的临床和血清学评估确定,必要时进行放射学评估。通过DNA指纹图谱确认了合子性。总共,14对(15.4%)MZ双胞胎和4对(3.6%)DZ双胞胎疾病一致(风险比:4.3,95%置信区间1.5至12.6)。媒体招募的双胞胎和临床招募的双胞胎之间的一致性没有差异。此外,在调整年龄、发病年龄、性别和类风湿因子状态后,MZ双胞胎的额外一致性仍然存在。分析与第一个受影响双胞胎的疾病发病时间相关的数据表明,MZ受影响先证者最初未受影响的双胞胎中,随后的疾病风险随着随访时间的延长而增加。我们得出结论,总体MZ一致率为15%,低于约30年前一项研究中通常引用的30%这一数字,并为疾病易感性的潜在遗传贡献设定了上限。