Including genotype information in health surveys

摘要

In a study that examined associations between single nucleotide polymorphism (SNP) loci within the promoter of the PRTN3 gene and the autoimmune disease Wegener’s granulomatosis (WG), we implemented a self-administered pilot survey that captured participants’ demographic data, family relationships, incidence of autoimmune disease among family members, and attitudes about DNA collection. We next integrated the survey and genotype data to test associations between genotype and phenotype, to examine demographic characteristics of WG patients and their families, and to examine the robustness of the data collection approach.The subjects in this study had previously been diagnosed with WG and were recruited through the North Carolina Wegener’s Granulomatosis Association. Those who indicated a willingness to participate in the study were asked to provide the names of biological relatives who might also be willing to participate. PRTN3 genotype information was obtained from DNA samples collected from the 145 study participants using a noninvasive and self-administered buccal-cell harvesting method.This manuscript describes a pilot study that was performed to collect information from a sample of patients diagnosed with WG and from their parents and siblings who were disease-free. One of its objectives was to identify problems that might be encountered, and possibly prevented, in larger epidemiological studies. Linking epidemiological and genotype data has the potential to yield extended results that cannot be achieved using data from either source alone. We estimate a total burden oversampling estimate of 9%: 2.1% to offset the loss of respondents due to including genotype data and 7.0% due to the effects of using a buccal-cell sample to harvest DNA.