This project involves the analysis of a variety of complex traits, including data collected by the Genetic Studies Section as well as data collected by many different collaborating units. Analysis consists both of utilization of standard genetic, statistical, and epidemiologic methods, as well as the development of novel methods on an as-needed basis specific to the type of data in question. In addition, Section personnel provide consultation and support for various investigators, both intramural (within the NIAMS and elsewhere in NIH) and extramural, who are interested in assessing the genetic component of diseases. We provide guidance to other investigators, or directly design and execute studies to (1) assess familial aggregation of disease, (2) evaluate the statistical evidence forlinkage 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, either those available publically or those we develop in the Section. In the past year, Section personnel have participated in thedesign of a genetic epidemiologic study of an intronic polymorphism in the XPC locus to determine if there was an association with longevity or specific malignant outcomes. We found that a specific heterozygous genotype was associated with an approximate two-fold decreased risk of prostate cancer and skin cancer in middle aged and elderly men. A recently published prospective cohort study of nearly 1.1 million adults reported that men with non-melanoma skin cancer have increased risk of dying of prostate cancer. Our study suggests that there may be a genetic factor linking these two disorders.This collaborative studyallowed Section personnel to develop novel approaches to questions about hereditary disease, and provided much needed assistance to other organizations who lacked personnel with the expertise to address their scientific questions. - consultation, analysis, epidemiology, linkage, genetic disease, statistics
| 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 |
