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Isolated cleft palate in Danish multiple births, 1970-1990
K Christensen1, P Fogh-Andersen
1Genetic Epidemiologic Research Unit, Odense University, Denmark.
Summary
Genetic factors play a significant role in isolated cleft palate (CP) etiology. Environmental and stochastic factors also contribute to CP development, as suggested by twin study findings.
Area of Science:
- Genetics
- Developmental Biology
- Epidemiology
Background:
- The causes of isolated cleft palate (CP) are largely unknown.
- The classical twin method is valuable for studying genetic and environmental influences but lacks sufficient CP twin data.
- Existing CP twin data may be highly selected, limiting generalizability.
Purpose of the Study:
- To investigate the etiological factors of isolated cleft palate (CP) using twin data.
- To assess the relative contributions of genetic and environmental factors in CP development.
- To leverage Danish nationwide data for a comprehensive CP twin study.
Main Methods:
- Utilized four Danish nationwide ascertainment sources for cleft palate (CP) multiple births from 1970-1990.
- Identified 18 CP cases in multiple births, including monozygotic and dizygotic twin pairs, triplets, and unknown zygosity pairs.
- Covered ascertainment from 15 weeks of gestation through adolescence for older cohorts.
Main Results:
- Identified two monozygotic twin pairs (one concordant) and eight dizygotic, discordant twin pairs.
- Included three cases from two triplet sets and four discordant twin pairs of unknown zygosity.
- Observed twin concordance rates indicating a substantial role for genetic factors.
Conclusions:
- Twin concordance rates strongly suggest that genetic factors are primary in cleft palate (CP) etiology.
- Environmental and/or stochastic factors are also implicated in the development of CP.
- Further research is needed to fully elucidate the complex interplay of factors in CP.