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- Oddsson, Asmundur, et al.
(författare)
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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
- 2023
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785.
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- Marteinsson, Steinthor A., et al.
(författare)
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Reoperation for bleeding following coronary artery bypass surgery with special focus on long-term outcomes
- 2020
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Ingår i: Scandinavian Cardiovascular Journal. - : TAYLOR & FRANCIS LTD. - 1401-7431 .- 1651-2006. ; 54:4, s. 265-273
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: We studied the incidence and risk factors of reoperation for bleeding following CABG in a nationwide cohort with focus on long-term complications and survival.Design: A retrospective study on 2060 consecutive, isolated CABG patients operated 2001-2016. Outcome of reoperated patients (n = 130) were compared to non-reoperated ones (n = 1930), including major adverse cardiac and cerebrovascular events (MACCE) and overall survival. Risk factors for reoperation were determined using multivariate logistic regression and a Cox proportional hazards model to assess prognostic factors of long-term survival. Median follow-up was 7.6 years.Results: One hundred thirty patients (6.3%) were reoperated with an annual decrease of 4.1% per year over the study period (p=.04). Major complications (18.5 vs. 9.6%) and 30-day mortality (8.5 vs. 1.9%,) were higher in the reoperation group (p<.001). The use of clopidogrel preoperatively (OR 3.62, 95% CI: 1.90-6.57) and reduced left ventricular ejection fraction (OR 2.23, 95% CI: 1.25-3.77) were the strongest predictors of reoperation, whereas off-pump surgery was associated with a lower reoperation risk (OR 0.44, 95% CI: 0.22-0.85). After exluding patients that died within 30 days postoperatively, no difference in long-term survival or freedom from MACCE was found between groups, and reoperation was not an independent risk factor for long-term mortality in multivariate analysis.Conclusions: The reoperation rate in this study was relatively high but decreased significantly over time. Reoperation was associated with twofold increased risk for major complications and fourfold 30-day mortality, but comparable long-term MACCE and survival rates. This implies that if patients survive the first 30 days following reoperation, their long-term outcome is comparable to non-reoperated patients.
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- Gisladottir, Rosa S, et al.
(författare)
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Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
- 2020
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Ingår i: Current biology : CB. - : Elsevier BV. - 1879-0445 .- 0960-9822. ; 30:23
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Tidskriftsartikel (refereegranskat)abstract
- Olfactory receptor (OR) genes in humans form a special class characterized by unusually high DNA sequence diversity, which should give rise to differences in perception and behavior. In the largest genome-wide association study to date based on olfactory testing, we investigated odor perception and naming with smell tasks performed by 9,122 Icelanders, with replication in a separate sample of 2,204 individuals. We discovered an association between a low-frequency missense variant in TAAR5 and reduced intensity rating of fish odor containing trimethylamine (p.Ser95Pro, pcombined= 5.6× 10-15). We demonstrate that TAAR5 genotype affects aversion to fish odor, reflected by linguistic descriptions of the odor and pleasantness ratings. We also discovered common sequence variants in two canonical olfactory receptor loci that associate with increased intensity and naming of licorice odor (trans-anethole: lead variant p.Lys233Asn in OR6C70, pcombined= 8.8× 10-16 and pcombined= 1.4× 10-9) and enhanced naming of cinnamon (trans-cinnamaldehyde; intergenic variant rs317787-T, pcombined= 5.0× 10-17). Together, our results show that TAAR5 genotype variation influences human odor responses and highlight that sequence diversity in canonical OR genes can lead to enhanced olfactory ability, in contrast to the view that greater tolerance for mutations in the human OR repertoire leads to diminished function.
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- Gustafsdottir, S. S., et al.
(författare)
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Making Europe health literate: including older adults in sparsely populated Arctic areas
- 2022
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Ingår i: BMC Public Health. - : Springer Science and Business Media LLC. - 1471-2458. ; 22:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Older people have been identified as having lower health literacy (HL) than the general population average. Living in sparsely populated Arctic regions involves unique health challenges that may influence HL. The research aim was to explore the level of HL, its problematic dimensions, and its association with the selection of contextual factors among older adults living in sparsely populated areas in Northern Iceland. Method This was a cross-sectional study based on a stratified random sample from the national register of one urban town and two rural areas. The study included 175 participants (57.9% participation rate) who were community-dwelling (40% rural) and aged 65-92 years (M 74.2 +/- SD 6.3), 43% of whom were women. Data were collected in 2017-2018 via face-to-face interviews, which included the standardised European Health Literacy Survey Questionnaire-short version (HLS-EU-Q16) with a score range from 0 to 16 (low-high HL). Results The level of HL ranged from 6-16 (M 13.25, SD +/- 2.41) with 65% having sufficient HL (score 13-16), 31.3% problematic HL (score 9-12) and 3.7% inadequate HL (score 0-8). Most problematic dimension of HL was within the domains of disease prevention and health promotion related to information in the media. Univariate linear regression revealed that better HL was associated with more education (p=0.001), more resiliency (p=0.001), driving a car (p=0.006), good access to health care- (p=0.005) and medical service (p=0.027), younger age (p=0.005), adequate income (p=0.044) and less depression (p=0.006). Multivariable analysis showed that more education (p=0.014) and driving a car (p=0.017) were independent predictors of better HL. Conclusion Difficulties in HL concern information in the media. HL was strongly associated with education and driving a car however, not with urban-rural residency. Mobility and access should be considered for improving HL of older people.
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