Lin Y C, Lo L J, Noordhoff M S, Chen Y R
Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taipei, Chang Gung University.
Changgeng Yi Xue Za Zhi. 1999 Mar;22(1):61-7.
Cleft lip and palate is one of the most common congenital anomalies in Taiwan. Its etiology remains unknown for the majority of the patients. The study of twins is a classic method for evaluating the relative roles of genetic and environmental factors in the formation of the anomaly.
In this study, 37 pairs of twins and one set of triplets with cleft lip and palate were evaluated. Clinical data were collected for zygosity determination and analysis of etiologic factors. The concordance rate and heritability index were assessed.
The results showed that the concordance rate was 26% for all twins and 57% among the monozygotic pairs, which is higher than those rates for the Caucasian population. The heritability index was 53%, higher than the other reports as well. The influence of the environment could not be ruled out.
The results confirm a strong genetic role in the etiology of clefts in our patients. Environmental factors were acting as well. The findings in this study support the multifactorial threshold model in the development of cleft lip and palate.
唇腭裂是台湾地区最常见的先天性畸形之一。大多数患者的病因仍不明。对双胞胎的研究是评估遗传和环境因素在该畸形形成中相对作用的经典方法。
本研究评估了37对唇腭裂双胞胎及一组三胞胎。收集临床数据以确定合子性并分析病因。评估了一致率和遗传度指数。
结果显示，所有双胞胎的一致率为26%，单卵双胎中的一致率为57%，高于白种人群的这些比率。遗传度指数为53%，也高于其他报告。不能排除环境的影响。
结果证实遗传因素在我们患者唇腭裂病因中起重要作用。环境因素也有影响。本研究结果支持唇腭裂发生的多因素阈值模型。
