GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • American Medical Association (AMA)  (3)
  • 1
    Online Resource
    Online Resource
    Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population
    American Medical Association (AMA) ; 2021
    In:  JAMA Ophthalmology Vol. 139, No. 7 ( 2021-07-01), p. 762-
    Details
    In: JAMA Ophthalmology, American Medical Association (AMA), Vol. 139, No. 7 ( 2021-07-01), p. 762-
    Type of Medium: Online Resource
    ISSN: 2168-6165
    URL: Article
    DOI: 10.1001/jamaophthalmol.2021.1610
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2021
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy
    American Medical Association (AMA) ; 2023
    In:  JAMA Cardiology Vol. 8, No. 7 ( 2023-07-01), p. 674-
    Details
    In: JAMA Cardiology, American Medical Association (AMA), Vol. 8, No. 7 ( 2023-07-01), p. 674-
    Abstract: A genetic contribution to preeclampsia susceptibility has been established but is still incompletely understood. Objective To disentangle the underlying genetic architecture of preeclampsia and preeclampsia or other maternal hypertension during pregnancy with a genome-wide association study (GWAS) of hypertensive disorders of pregnancy. Design, Setting, and Participants This GWAS included meta-analyses in maternal preeclampsia and a combination phenotype encompassing maternal preeclampsia and preeclampsia or other maternal hypertensive disorders. Two overlapping phenotype groups were selected for examination, namely, preeclampsia and preeclampsia or other maternal hypertension during pregnancy. Data from the Finnish Genetics of Pre-eclampsia Consortium (FINNPEC, 1990-2011), Finnish FinnGen project (1964-2019), Estonian Biobank (1997-2019), and the previously published InterPregGen consortium GWAS were combined. Individuals with preeclampsia or other maternal hypertension during pregnancy and control individuals were selected from the cohorts based on relevant International Classification of Diseases codes. Data were analyzed from July 2020 to February 2023. Exposures The association of a genome-wide set of genetic variants and clinical risk factors was analyzed for the 2 phenotypes. Results A total of 16 743 women with prior preeclampsia and 15 200 with preeclampsia or other maternal hypertension during pregnancy were obtained from FINNPEC, FinnGen, Estonian Biobank, and the InterPregGen consortium study (respective mean [SD] ages at diagnosis: 30.3 [5.5] , 28.7 [5.6], 29.7 [7.0] , and 28 [not available] years). The analysis found 19 genome-wide significant associations, 13 of which were novel. Seven of the novel loci harbor genes previously associated with blood pressure traits ( NPPA , NPR3 , PLCE1 , TNS2 , FURIN , RGL3 , and PREX1 ). In line with this, the 2 study phenotypes showed genetic correlation with blood pressure traits. In addition, novel risk loci were identified in the proximity of genes involved in the development of placenta ( PGR , TRPC6 , ACTN4 , and PZP ), remodeling of uterine spiral arteries ( NPPA , NPPB , NPR3 , and ACTN4 ), kidney function ( PLCE1 , TNS2 , ACTN4 , and TRPC6 ), and maintenance of proteostasis in pregnancy serum ( PZP ). Conclusions and Relevance The findings indicate that genes related to blood pressure traits are associated with preeclampsia, but many of these genes have additional pleiotropic effects on cardiometabolic, endothelial, and placental function. Furthermore, several of the associated loci have no known connection with cardiovascular disease but instead harbor genes contributing to maintenance of successful pregnancy, with dysfunctions leading to preeclampsialike symptoms.
    Type of Medium: Online Resource
    ISSN: 2380-6583
    URL: Article
    DOI: 10.1001/jamacardio.2023.1312
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2023
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Estimating Dementia Risk Using Multifactorial Prediction Models
    American Medical Association (AMA) ; 2023
    In:  JAMA Network Open Vol. 6, No. 6 ( 2023-06-13), p. e2318132-
    Details
    In: JAMA Network Open, American Medical Association (AMA), Vol. 6, No. 6 ( 2023-06-13), p. e2318132-
    Abstract: The clinical value of current multifactorial algorithms for individualized assessment of dementia risk remains unclear. Objective To evaluate the clinical value associated with 4 widely used dementia risk scores in estimating 10-year dementia risk. Design, Setting, and Participants This prospective population-based UK Biobank cohort study assessed 4 dementia risk scores at baseline (2006-2010) and ascertained incident dementia during the following 10 years. Replication with a 20-year follow-up was based on the British Whitehall II study. For both analyses, participants who had no dementia at baseline, had complete data on at least 1 dementia risk score, and were linked to electronic health records from hospitalizations or mortality were included. Data analysis was conducted from July 5, 2022, to April 20, 2023. Exposures Four existing dementia risk scores: the Cardiovascular Risk Factors, Aging and Dementia (CAIDE)-Clinical score, the CAIDE– APOE -supplemented score, the Brief Dementia Screening Indicator (BDSI), and the Australian National University Alzheimer Disease Risk Index (ANU-ADRI). Main Outcomes and Measures Dementia was ascertained from linked electronic health records. To evaluate how well each score predicted the 10-year risk of dementia, concordance (C) statistics, detection rate, false-positive rate, and the ratio of true to false positives were calculated for each risk score and for a model including age alone. Results Of 465 929 UK Biobank participants without dementia at baseline (mean [SD] age, 56.5 [8.1] years; range, 38-73 years; 252 778 [54.3%] female participants), 3421 were diagnosed with dementia at follow-up (7.5 per 10 000 person-years). If the threshold for a positive test result was calibrated to achieve a 5% false-positive rate, all 4 risk scores detected 9% to 16% of incident dementia and therefore missed 84% to 91% (failure rate). The corresponding failure rate was 84% for a model that included age only. For a positive test result calibrated to detect at least half of future incident dementia, the ratio of true to false positives ranged between 1 to 66 (for CAIDE– APOE -supplemented) and 1 to 116 (for ANU-ADRI). For age alone, the ratio was 1 to 43. The C statistic was 0.66 (95% CI, 0.65-0.67) for the CAIDE clinical version, 0.73 (95% CI, 0.72-0.73) for the CAIDE– APOE -supplemented, 0.68 (95% CI, 0.67-0.69) for BDSI, 0.59 (95% CI, 0.58-0.60) for ANU-ADRI, and 0.79 (95% CI, 0.79-0.80) for age alone. Similar C statistics were seen for 20-year dementia risk in the Whitehall II study cohort, which included 4865 participants (mean [SD] age, 54.9 [5.9] years; 1342 [27.6%] female participants). In a subgroup analysis of same-aged participants aged 65 (±1) years, discriminatory capacity of risk scores was low (C statistics between 0.52 and 0.60). Conclusions and Relevance In these cohort studies, individualized assessments of dementia risk using existing risk prediction scores had high error rates. These findings suggest that the scores were of limited value in targeting people for dementia prevention. Further research is needed to develop more accurate algorithms for estimation of dementia risk.
    Type of Medium: Online Resource
    ISSN: 2574-3805
    URL: Article
    DOI: 10.1001/jamanetworkopen.2023.18132
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2023
    detail.hit.zdb_id: 2931249-8
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...