31 research outputs found
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans
Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have
fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in
25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16
regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of
correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP,
while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in
Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium
(LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region.
Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant
enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the
refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa,
an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of
PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent
signals within the same regio
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A Study of Global Health Elective Outcomes: A Pediatric Residency Experience
Background and Objectives: To identify the effects of global health electives over a decade in a pediatric residency program. Methods: This was an anonymous email survey of the Boston Combined Residency alumni funded for global health electives from 2002 to 2011. A test for trend in binomial proportions and logistic regression were used to document associations between elective and participant characteristics and the effects of the electives. Qualitative data were also analyzed. Results: Of the 104 alumni with available email addresses, 69 (66%) responded, describing 94 electives. Elective products included 27 curricula developed, 11 conference presentations, and 7 academic publications. Thirty-two (46%) alumni continued global health work. Previous experience, previous travel to the site, number of global electives, and cumulative global elective time were associated with postresidency work in global health or with the underserved. Conclusions: Resident global electives resulted in significant scholarship and teaching and contributed to long-term career trajectories
Variations in state-level definitions: children with special health care needs.
Multiple agencies at the federal and state level provide for children with special health care needs (CSHCN), with variation in eligibility criteria. Epidemiological studies show that 3.8%-32% of children could be classified as children with special health care needs, depending on the definition and method of determination used. OBJECTIVES: To determine the extent of variation between definitions used and funding by Supplemental Security Income (SSI), Title V, and Medicaid for CSHCN. METHODS: Statistics on children receiving SSI and the amount of funding were obtained from the SSI website. This was compared to information on Title V children from the Maternal and Child Health Bureau (MCHB) website and eligibility definitions published by the Institute of Child Health Policy in Gainesville, Florida. Medicaid definitions were obtained through interviews with state Medicaid agencies and confirmed with state regulations. RESULTS: The population enrolled in SSI has varied with alterations in eligibility criteria. The number of children enrolled in SSI and the amount of funding per child in each state correlate with the state poverty rate (r=0.56, p<0.0001; r=0.44, p<0.001). Enrollment in Title V does not correlate with state poverty rates (r=0.16, p=0.25). Title V definitions vary widely among states, but there was no correlation between the number of children served or amount of funding per child and the type of definition used (Z=-0.12, p=0.91; Z=-0.59, p=0.55). State Medicaid agencies rarely define CSHCN. CONCLUSIONS: There is significant variation in definitions used by agencies serving CSHCN. Agencies need to be more explicit with eligibility criteria so the definitions are logical to those making referrals for services
Immunizations in Children with Special Health Care Needs in a Medical Home Model of Care
A Study of Global Health Elective Outcomes
Background and Objectives: To identify the effects of global health electives over a decade in a pediatric residency program. Methods: This was an anonymous email survey of the Boston Combined Residency alumni funded for global health electives from 2002 to 2011. A test for trend in binomial proportions and logistic regression were used to document associations between elective and participant characteristics and the effects of the electives. Qualitative data were also analyzed. Results: Of the 104 alumni with available email addresses, 69 (66%) responded, describing 94 electives. Elective products included 27 curricula developed, 11 conference presentations, and 7 academic publications. Thirty-two (46%) alumni continued global health work. Previous experience, previous travel to the site, number of global electives, and cumulative global elective time were associated with postresidency work in global health or with the underserved. Conclusions: Resident global electives resulted in significant scholarship and teaching and contributed to long-term career trajectories