Christensen K, Fogh-Andersen P
Genetic Epidemiologic Research Unit, Odense University, Denmark.
Clin Genet. 1994 Nov;46(5):329-35. doi: 10.1111/j.1399-0004.1994.tb04173.x.
Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 CP cases. It was found that, although females tended to be more severely affected than males, the overall sex ratio was close to one. For the latter half of the study period (1962-87), which probably had the best ascertainment, the sex ratio for non-syndromic CP was 0.95 (95% C.I. 0.85-1.07). Marked difference in sex ratios for non-syndromic overt CP including the hard palate (CPH) and non-syndromic overt CP of the soft palate only (CPS) (0.69 vs 1.00, p < 1.00, p < 0.05) suggested that these two conditions may be etiologically distinct, a hypothesis which is embryologically plausible. In agreement with this hypothesis, Danish family data from surgically treated CP cases showed a strong tendency to segregate only one of the CP subtypes within families. Future studies are recommended to test the existence of a possible etiological difference between CPH and CPS.
孤立性腭裂（CP）被认为是一种异质性性状，在病因学上有重要的遗传因素。非综合征性CP遗传的多因素阈值模型假定女性占主导。本研究对52个丹麦出生队列进行了研究，使用了多种确诊来源，共识别出2301例CP病例。研究发现，尽管女性受影响的程度往往比男性更严重，但总体性别比接近1。在研究期的后半段（1962 - 1987年），这一时期的确诊情况可能是最好的，非综合征性CP的性别比为0.95（95%置信区间0.85 - 1.07）。包括硬腭的非综合征性显性CP（CPH）和仅软腭的非综合征性显性CP（CPS）的性别比存在显著差异（0.69对1.00，p < 1.00，p < 0.05），这表明这两种情况在病因上可能不同，这一假设在胚胎学上是合理的。与这一假设一致，来自接受手术治疗的CP病例的丹麦家庭数据显示，家庭中强烈倾向于仅分离出一种CP亚型。建议未来的研究检验CPH和CPS之间可能存在的病因差异。
