Novak Carol E, Keuthen Nancy J, Stewart S Evelyn, Pauls David L
Health Partners, St. Paul, Minneapolis, USA.
Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):944-9. doi: 10.1002/ajmg.b.30922.
Trichotillomania (TTM) is a disorder with putative genetic underpinnings. Family studies report higher than expected rates of TTM among relatives of affected individuals, but no twin concordance studies have been completed to estimate heritability rates. Same-sex twin pairs with hair pulling in at least one co-twin were included. Subjects were recruited following phone screens and questionnaire completion for zygosity and hair pulling variables. Three sets of criteria were used to define hair pulling and TTM. Two other sets of criteria were widened to include skin picking and bothersome hair manipulation. Fisher exact tests assessed pairwise concordance rates for monozygotic and dizygotic twin pairs and heritability estimates were calculated where significant differences existed. Among 34 identified twin pairs, 24 were monozygotic (MZ) and 10 were dizygotic (DZ). Respective concordance rates for MZ and DZ twin pairs were significantly different at 38.1% and 0% for DSM-IV TTM criteria, 39.1% and 0% using modified DSM criteria, and 58.3% and 20% for noticeable non-cosmetic hair pulling (heritability estimates 76.2%). MZ and DZ concordance rates were not significantly different when broadening hair pulling criteria to include skin picking or when including bothersome hair manipulation. Concordance rates from this study suggest that genetic factors play a significant role in the etiology of TTM. Given the reported discordance rates among the MZ twins, further research is required to fully understand contributory non-genetic factors.
拔毛癖(TTM)是一种具有假定遗传基础的疾病。家族研究报告称,在受影响个体的亲属中,TTM的发病率高于预期,但尚未完成双生子一致性研究来估计遗传率。纳入了至少有一名双胞胎有拔毛行为的同性双胞胎对。通过电话筛选和完成关于同卵性和拔毛变量的问卷来招募受试者。使用三组标准来定义拔毛行为和TTM。另外两组标准放宽到包括皮肤搔抓和烦人的毛发处理。Fisher精确检验评估了同卵和异卵双胞胎对的成对一致性率,并在存在显著差异的情况下计算遗传率估计值。在34对已识别的双胞胎对中,24对是同卵双胞胎(MZ),10对是异卵双胞胎(DZ)。对于DSM-IV TTM标准,MZ和DZ双胞胎对的相应一致性率分别为38.1%和0%,使用修改后的DSM标准时分别为39.1%和0%,对于明显的非美容性拔毛行为(遗传率估计值为76.2%)分别为58.3%和20%。当拓宽拔毛标准以包括皮肤搔抓或包括烦人的毛发处理时,MZ和DZ的一致性率没有显著差异。本研究的一致性率表明,遗传因素在TTM的病因中起重要作用。鉴于报道的MZ双胞胎之间的不一致率,需要进一步研究以充分了解非遗传因素的作用。