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- Mahajan, Anubha, et al.
(author)
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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
- 2018
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In: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 50:11, s. 1505-
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Journal article (peer-reviewed)abstract
- We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend the inventory of T2D-risk variants (243 loci,135 newly implicated in T2D predisposition, comprising 403 distinct association signals); (ii) enrich discovery of lower-frequency risk alleles (80 index variants with minor allele frequency <5%,14 with estimated allelic odds ratio >2); (iii) substantially improve fine-mapping of causal variants (at 51 signals, one variant accounted for >80% posterior probability of association (PPA)); (iv) extend fine-mapping through integration of tissue-specific epigenomic information (islet regulatory annotations extend the number of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding variants); and (vi) demonstrate enhanced potential for clinical translation (genome-wide chip heritability explains 18% of T2D risk; individuals in the extremes of a T2D polygenic risk score differ more than ninefold in prevalence).
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- Burgi, Ciara R., et al.
(author)
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Which criteria are used to clear patients to return to sport after primary ACL reconstruction? A scoping review
- 2019
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In: British Journal of Sports Medicine. - : BMJ PUBLISHING GROUP. - 0306-3674 .- 1473-0480. ; 53:18, s. 1154-1161
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Research review (peer-reviewed)abstract
- Objective To describe the criteria used to clear athletes to return to sport (RTS) following primary ACL reconstruction. Design Scoping review. Data sources MEDLINE, Embase, CINAHL and SPORTDiscus electronic databases were searched using keywords related to ACL and RTS. Eligibility criteria Prospective or retrospective studies reporting at least one RTS criterion for athletes who had primary ACL reconstruction with an autograft. Results In total, 209 studies fulfilled the inclusion criteria. RTS criteria were categorised into six domains: time, strength, hop testing, clinical examination, patient-report and performance-based criteria. From the 209 included studies, time was used in 178 studies (85%), and in 88 studies (42%) was the sole RTS criterion. Strength tests were reported in 86 studies (41%). Sixteen different hop tests were used in 31 studies (15%). Clinical examination was used in 54 studies (26%), patient report in 26 studies (12%) and performance-based criteria in 41 studies (20%). Summary Time and impairment-based measures dominated RTS criteria, despite sport being a complex physical and biopsychosocial activity with demands across all aspects of function. Time was included as a criterion in 85% of studies, and over 80% of studies allowed RTS before 9 months. Whether RTS tests are valid-do they predict successful RTS?-is largely unknown.
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