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- Surendran, Praveen, et al.
(author)
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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
- 2016
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1151-1161
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Journal article (peer-reviewed)abstract
- High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used -1/4155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
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| 2. |
- van Zuydam, NR, et al.
(author)
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A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes
- 2018
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In: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 67:7, s. 1414-1427
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Journal article (peer-reviewed)abstract
- Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near GABRR1 (rs9942471, P = 4.5 × 10−8) associated with microalbuminuria in European T2D case subjects. However, no replication of this signal was observed in Asian subjects with T2D or in the equivalent T1D analysis. There was only limited support, in this substantially enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate. We conclude that, despite challenges in addressing phenotypic heterogeneity, access to increased sample sizes will continue to provide more robust inference regarding risk variant discovery for DKD.
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| 3. |
- Tuomi, Lisa, 1985, et al.
(author)
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Voice Range Profile and Health-related Quality of Life Measurements Following Voice Rehabilitation After Radiotherapy; a Randomized Controlled Study
- 2017
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In: Journal of Voice. - : Elsevier BV. - 0892-1997 .- 1873-4588. ; 31:1
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Journal article (peer-reviewed)abstract
- © 2016 The Voice Foundation.Purpose: The aim of the present study was to investigate the effects of voice rehabilitation in patients treated with radiotherapy for laryngeal cancer. Method: A total of 42 patients with laryngeal cancer who are treated with radiotherapy with curative intent participated in a randomized controlled study. The collected data were voice range profiles (VPRs) and patient-reported outcome (PRO) instruments for measurement of self-perceived communication function (Swedish Self-Evaluation for Communication Experiences after Laryngeal cancer (S-SECEL)) and health related quality of life (HRQL) (European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire Core 30/Head and Neck module). Data were collected 1 month (pre voice rehabilitation), 6 months, and 12 months postradiotherapy. Of the patients, 19 received voice rehabilitation, whereas 23 constituted a control group. Results: There were several statistically significant improvements in the study group concerning the HRQL and self-perceived communication function. The largest improvements occurred between occasions 1 (prevoice rehabilitation) and 2 (6-month postradiotherapy) and then remained constant. VRP area demonstrated a statistically significant difference when comparing changes over time, where the study group improved more than the control group. Conclusion: HRQL and self-perceived communication function showed improvement in the study group and trends of impairment in the control group. This result might suggest that it would be beneficial for the patients as well as in a health economic perspecitve, to receive voice rehabilitatiom to make a faster improvement of the HRQL and self-perceived communication function.
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