Data Mining And Population Genetics Of
Birth Defects: Preliminary Investigation
Author(s)
B. Little
Abstract
Population level inbreeding can be estimated from mating patterns in marriage
records. Birth defect registries separately collect information on the frequency
and types of birth defects. The U.S. national census provides population
structure data to the county or postal code levels in another separate database.
State health departments maintain vital statistics information on marriage,
reproduction, birth defects, and mortality in yet other databases. More than 6
million marriages in Texas were analysed to estimate inbreeding at county,
regional, and state levels. Three types of birth defects were analysed: (1) one
known to be associated with an autosomal recessive inheritance pattern
(Ventricular Septal Defect – VSD); (2) one of unknown aetiology, speculated to
be associated with a very rare autosomal recessive gene (Ebstein’s Anomaly),
and (3) one known to not be related to parental consanguinity (Fetal Alcohol
Syndrome - FAS). A significant relationship between estimated local
consanguinity and VSD was found. Ebstein’s Anomaly, the birth defect of
unknown aetiology but suspected to be recessively inherited, showed a strong
relationship to estimated population level of inbreeding, suggesting a major
recessive gene influence. In the case of a birth defect known to caused by
environmental rather than genetic factors (FAS), no relation to estimated
inbreeding was found. In conclusion, data mining population genetic data
revealed patterns of birth defects in very large databases (VLDBs) when merged
into a data structure suited to data mining. In this instance, a viable hypothesis
was derived for the cause of an extremely rare birth defect of unknown aetiology.
Hence, data mining of population genetic VLDBs can yield new information that
may be useful to guide genomic and clinical research directions.
Keywords
Related Book
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