INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS

Johns Hopkins University, Baltimore MD

Investigators

Linked publications & trials

Abstract

Oral clefts (including cleft lip, CL; cleft palate, CP; and cleft lip and palate, CLP) represent a complex and heterogeneous group of crainofacial defects that constitute a major public health burden due to their high prevalence. We propose an international collaborative study to test specific candidate genes and their potential interaction with environmental risk factors using the case-parent trio design. Since this case-parent design avoids the problem of confounding due to population stratification, it is most suitable for international collaborative studies where samples from genetically distinct populations are collected. We feel it is necessary to extend genetic epidemiologic studies of oral clefts into international collaborative efforts to accumulate adequate samples sizes in the shortest time possible. This will require extensive planning to insure similarity in ascertainment of cases, comparability of exposure data collected by each center, and high levels of quality control in the processing of DNA and typing of genetic markers. We are proposing to develop an international study of genetic epidemiology of oral clefts based on case-parent trios (plus sib controls, where available) at 5 centers: Johns Hopkins (USA), Singapore, Taiwan, Hong Kong and Japan. During the 2 year planning phase proposed here, we will hold two meetings among co- investigators to develop standardized research protocols to collect DNA and environmental exposure data from cases and their parent (plus available sib controls). The first meeting will be held in Baltimore, where the Hopkins group will share their experience in the genetic epidemiology of oral clefts. The second meeting will be held in Singapore to review how research protocols should be modified for maximum effectiveness in the Asian centers. After this planning phase, this group of collaborators will prepare and submit a grant to fund a full scale international study of oral clefts.