Participants in this study were all members of the Marshfield Clinic’s PMRP. The PMRP is one site of the National Institutes of Health (NIH)–funded eMERGE (Electronic Medical Records and Genomics) Network, a consortium of medical centers with EHR-linked banked DNA (36). The PMRP includes 20,353 individuals (40% of the eligible population of the Marshfield Epidemiologic Study Area, a 19–zip code region centered geographically around Marshfield, Wisconsin, and an additional 9–zip code area in northern Wisconsin) who consented to share their EHRs, DNA, and other biosamples for research. Recruitment into the PMRP began in 2002. We assayed CGG repeat length in all PMRP participants for whom DNA samples were available (n = 19,996) using the procedures described previously (8, 20). The exact size of the CGG repeat is available for 3998 participants (2114 females and 1884 males), from which 620 males and 650 females qualified as possible controls for this study; after matching, 494 males and 507 females were included in the data analysis. The PMRP is the only eMERGE site with FMR1 CGG data. The participants came from a very stable/stationary rural population for which the average participant has approximately 40 years of continuous and virtually comprehensive data within the Marshfield Clinic EHR system linked to both stored and assayed biospecimens (e.g., DNA).

Institutional review board (IRB) approval for this research was obtained by the Marshfield Clinic and the University of Wisconsin-Madison. According to the approved protocol, participants consented to contribution of their deidentified EHRs and DNA to be used in research without expectation of return of research results (37). The ethical considerations raised by this protocol have been discussed extensively in previous reports (38).

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