This project involves analysis of a variety of complex traits, including data collected by the Genetic Studies Section as well as data collected by collaborating units. Analysis consists both of utilization of standard genetic, statistical, and epidemiologic methods and development of novel methods specific to the type of data in question. In addition, Section personnel provide consultation and support for various investigators, both intramural and extramural, who are interested in assessing the genetic component of diseases. We assist in the design and execution of studies to (1) assess familial aggregation of disease, (2) investigate linkage relationships between disease and genetic markers, (3) assess the relative risks of various environmental components to the development of disease, and (4) provide software support for genetic analysis programs. In the past year, Section personnel have worked on several projects, including genealogy development in the Pima Indians of the Gila River reservation and assessment of familial relationships between individuals with rheumatoid arthritis in the population; assessment of familial aggregation of dermatomyositis; assessment of familial aggregation of autoimmune disorders in families of probands with rheumatoid arthritis, linkage analysis in Carney Complex and AAA Syndrome, design of a genetic epidemiologic study of severe cystic acne, design of a genetic epidemiologic study of an intronic polymorphism in the XPC locus, gene linkage studies in hereditary optic atrophy, dyslexia, and learning disabilities. Manuscripts describing much of this work have been submitted for publication.
| Kovach, M J; Lin, J P; Boyadjiev, S et al. (1999) A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 64:1580-93 |
