| 1. |
- Estrada, Karol, et al.
(författare)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
- 2012
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
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Tidskriftsartikel (refereegranskat)abstract
- Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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| 2. |
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| 3. |
- Pelló, R., et al.
(författare)
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The WIRCam Ultra Deep Survey (WUDS) I. Survey overview and UV luminosity functions at z similar to 5 and z similar to 6
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 620
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this paper is to introduce the WIRCam Ultra Deep Survey (WUDS), a near-IR photometric survey carried out at the CFH Telescope in the field of the CFHTLS-D3 field (Groth Strip). WUDS includes four near-IR bands (Y, J, H and K-s) over a field of view of similar to 400 arcmin(2). The typical depth of WUDS data reaches between similar to 26.8 in Y and J, and similar to 26 in H and K-s (AB, 3 sigma- in 1.3 '' aperture), whereas the corresponding depth of the CFHTLS-D3 images in this region ranges between 28.6 and 29 in ugr, 28.2 in i and 27.1 in z (same S/N and aperture). The area and depth of this survey were specifically tailored to set strong constraints on the cosmic star formation rate and the luminosity function brighter or around L* in the z similar to 6-10 redshift domain, although these data are also useful for a variety of extragalactic projects. This first paper is intended to present the properties of the public WUDS survey in details: catalog building, completeness and depth, number counts, photometric redshifts, and global properties of the galaxy population. We have also concentrated on the selection and characterization of galaxy samples at z similar to [4.5-7] in this field. For these purposes, we include an adjacent shallower area of similar to 1260 arcmin(2) in this region, extracted from the WIRCam Deep Survey (WIRDS), and observed in J, H and K-s bands. UV luminosity functions were derived at z - 5 and z - 6 taking advantage from the fact that WUDS covers a particularly interesting regime at intermediate luminosities, which allows a combined determination of M* and Phi* with increased accuracy. Our results on the luminosity function are consistent with a small evolution of both M* and Phi* between z = 5 and z = 6, irrespective of the method used to derive them, either photometric redshifts applied to blindly-selected dropout samples or the classical Lyman Break Galaxy color-preselected samples. Our results lend support to higher Phi* determinations at z = 6 than usually reported. The selection and combined analysis of different galaxy samples at z >= 7 will be presented in a forthcoming paper, as well as the evolution of the UV luminosity function between z similar to 4.5 and 9. WUDS is intended to provide a robust database in the near-IR for the selection of targets for detailed spectroscopic studies, in particular for the EMIR/GTC GOYA Survey.
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| 5. |
- Molina-Montes, E, et al.
(författare)
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Deciphering the complex interplay between pancreatic cancer, diabetes mellitus subtypes and obesity/BMI through causal inference and mediation analyses
- 2021
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Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 70:2, s. 319-329
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Tidskriftsartikel (refereegranskat)abstract
- To characterise the association between type 2 diabetes mellitus (T2DM) subtypes (new-onset T2DM (NODM) or long-standing T2DM (LSDM)) and pancreatic cancer (PC) risk, to explore the direction of causation through Mendelian randomisation (MR) analysis and to assess the mediation role of body mass index (BMI).DesignInformation about T2DM and related factors was collected from 2018 PC cases and 1540 controls from the PanGenEU (European Study into Digestive Illnesses and Genetics) study. A subset of PC cases and controls had glycated haemoglobin, C-peptide and genotype data. Multivariate logistic regression models were applied to derive ORs and 95% CIs. T2DM and PC-related single nucleotide polymorphism (SNP) were used as instrumental variables (IVs) in bidirectional MR analysis to test for two-way causal associations between PC, NODM and LSDM. Indirect and direct effects of the BMI-T2DM-PC association were further explored using mediation analysis.ResultsT2DM was associated with an increased PC risk when compared with non-T2DM (OR=2.50; 95% CI: 2.05 to 3.05), the risk being greater for NODM (OR=6.39; 95% CI: 4.18 to 9.78) and insulin users (OR=3.69; 95% CI: 2.80 to 4.86). The causal association between T2DM (57-SNP IV) and PC was not statistically significant (ORLSDM=1.08, 95% CI: 0.86 to 1.29, ORNODM=1.06, 95% CI: 0.95 to 1.17). In contrast, there was a causal association between PC (40-SNP IV) and NODM (OR=2.85; 95% CI: 2.04 to 3.98), although genetic pleiotropy was present (MR-Egger: p value=0.03). Potential mediating effects of BMI (125-SNPs as IV), particularly in terms of weight loss, were evidenced on the NODM-PC association (indirect effect for BMI in previous years=0.55).ConclusionFindings of this study do not support a causal effect of LSDM on PC, but suggest that PC causes NODM. The interplay between obesity, PC and T2DM is complex.
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| 6. |
- Liu, Ching-Ti, et al.
(författare)
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Assessment of gene-by-sex interaction effect on bone mineral density
- 2012
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Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 1523-4681 .- 0884-0431. ; 27:10, s. 2051-2064
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Tidskriftsartikel (refereegranskat)abstract
- Sexual dimorphism in various bone phenotypes, including bone mineral density (BMD), is widely observed; however, the extent to which genes explain these sex differences is unclear. To identify variants with different effects by sex, we examined gene-by-sex autosomal interactions genome-wide, and performed expression quantitative trait loci (eQTL) analysis and bioinformatics network analysis. We conducted an autosomal genome-wide meta-analysis of gene-by-sex interaction on lumbar spine (LS) and femoral neck (FN) BMD in 25,353 individuals from 8 cohorts. In a second stage, we followed up the 12 top single-nucleotide polymorphisms (SNPs; p?
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| 7. |
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| 8. |
- Perez-Recio, Sandra, et al.
(författare)
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Identification of Recent Tuberculosis Exposure Using QuantiFERON-TB Gold Plus, a Multicenter Study
- 2021
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Ingår i: Microbiology Spectrum. - : American Society for Microbiology. - 2165-0497. ; 9:3
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Tidskriftsartikel (refereegranskat)abstract
- We investigated whether the difference of antigen tube 2 (TB2) minus antigen tube 1 (TB1) (TB22TB1) of the QuantiFERON-TB gold plus test, which has been postulated as a surrogate for the CD81 T-cell response, could be useful in identifying recent tuberculosis (TB) exposure. We looked at the interferon gamma (IFN-g) responses and differences in TB2 and TB1 tubes for 686 adults with QFT-plus positive test results. These results were compared among groups with high (368 TB contacts), low (229 patients with immune-mediated inflammatory diseases [IMID]), and indeterminate (89 asylum seekers or people from abroad [ASPFA]) risks of recent TB exposure. A TB2-TB1 value.0.6 IU.ml(-1) was deemed to indicate a true difference between tubes. In the whole cohort, 13.6%, 10.9%, and 11.2% of cases had a TB2>TB1 result in the contact, IMID, and ASPFA groups, respectively (P = 0.591). The adjusted odds ratios (aORs) for an association between a TB2-TB1 result of >0.6 IU.ml(-1) and risk of recent exposure versus contacts were 0.71 (95% confidence interval [CI], 0.31 to 1.61) for the IMID group and 0.86 (95% CI, 0.49 to 1.52) for the ASPFA group. In TB contact subgroups, 11.4%, 15.4%, and 17.7% with close, frequent, and sporadic contact had a TB2>TB1 result (P = 0.362). The aORs versus the close subgroup were 1.29 (95% CI, 0.63 to 2.62) for the frequent subgroup and 1.55 (95% CI, 0.67 to 3.60) for the sporadic subgroup. A TB2-TB1 difference of.0.6 IU.ml(-1) was not associated with increased risk of recent TB exposure, which puts into question the clinical potential as a proxy marker for recently acquired TB infection. IMPORTANCE Contact tuberculosis tracing is essential to identify recently infected people, who therefore merit preventive treatment. However, there are no diagnostic tests that can determine whether the infection is a result of a recent exposure or not. It has been suggested that by using the QuantiFERON-TB gold plus, an interferon gamma (IFN-gamma) release assay, a difference in IFN-gamma production between the two antigen tubes (TB2 minus TB1) of.0.6 IU.ml(-1) could serve as a proxy marker for recent infection. In this large multinational study, infected individuals could not be classified according to the risk of recent exposure based on differences in IFN- g in TB1 and TB2 tubes that were higher than 0.6 IU.ml(-1). QuantiFERON-TB gold plus is not able to distinguish between recent and remotely acquired tuberculosis infection, and it should not be used for that purpose in contact tuberculosis tracing.
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| 9. |
- Sanchez-Balcells, Sara, et al.
(författare)
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A Spanish adaptation of the Quality in Psychiatric Care-Inpatient (QPC-IP) instrument : Psychometric properties and factor structure
- 2021
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Ingår i: BMC Nursing. - : BioMed Central. - 1472-6955 .- 1472-6955. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIM: Western countries share an interest in evaluating and improving quality of care in the healthcare field. The aim was to develop and examine the psychometric properties and factor structure of the Spanish version of the Quality in Psychiatric Care-Inpatient (QPC-IP) instrument.METHODS: A psychometric study was conducted, translating the QPC-IPS instrument into Spanish, revision of the instrument by a panel of experts, and assessing its psychometric properties. 150 psychiatric inpatients completed the QPC-IP. Test-retest reliability was assessed by re-administering the questionnaire to 75 of these patients.RESULTS: After conducting pilot testing and a cognitive interview with 30 inpatients, it was determined that the QPC-IPS was adequate and could be self-administered. A Cronbach's alpha of 0.94 was obtained for the full instrument and values of 0.52-0.89 for the various dimensions of the questionnaire. Test re test reliability: The Intraclass Correlation Coefficient for the full questionnaire was 0.69, while for the individual dimensions values between 0.62 and 0.74 were obtained, indicating acceptable temporal stability. Convergent validity was analysed using 10-point numerical satisfaction scale, giving a positive correlation (0.49). Confirmatory factor analysis revealed six factors consistent with the original scale. The Spanish version yielded adequate results in terms of validity and reliability.CONCLUSION: Our findings provide evidence of the convergent validity, reliability, temporal stability and construct validity of the Spanish QPC-IP for measuring patient quality in psychiatric care in Spanish hospitals. Hospital administrators can use this tool to assess and identify areas for improvement to enhance quality in psychiatric care.
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| 10. |
- Sanchez-Balcells, Sara, et al.
(författare)
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A Spanish adaptation of the Quality in Psychiatric Care – Inpatient Staff (QPC-IPS) instrument : Psychometric properties and factor structure
- 2020
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Ingår i: Anales del Sistema Sanitario de Navarra. - : Departamento de Salud, Gobierno de Navarra. - 1137-6627 .- 2340-3527. ; 43:3, s. 307-321
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Tidskriftsartikel (refereegranskat)abstract
- Background. Western countries share an interest in evaluating quality of care in the healthcare field. In spite of this, there is a lack of intercultural comparison of the perceptions of professionals. One reason for this may be the lack of standardized instruments. The objective of this study was to investigate the psychometric properties and dimensions of the Spanish version of the Quality in Psychiatric Care-Inpatients Staff (QPC-IPS) instrument.Methods. After translation and revision of the instrument by a panel of experts, a questionnaire was obtained in Spanish that was administered to a pilot sample. A total of 163 professionals participated in the study.Results. After conducting pilot testing and a cognitive interview with 30 professionals, it was determined that the QPC-IPS was adequate and could be self-administered. Confirmatory factor analysis confirmed six factors that explained 60.9% of the variation. In terms of internal consistency, a Cronbach’s alpha of 0.92 was obtained for the full instrument. For test re-test reliability, the intraclass correlation coefficient for the overall questionnaire was 0.91. Convergent validity was analyzed using the NTP394 satisfaction instrument, yielding a positive correlation (0.58).Conclusions. The results demonstrated that the psychometric properties in terms of internal consistency, temporal stability (test-retest), content validity, and construct validity (confirmatory factor analysis) were adequate. These results confirm that the structure of the Spanish version is similar to the original Swedish version of the QPC-IP.
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