Search Results - "Eyjolfsson, Gudmundur"
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A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
Published in PLoS genetics (08-03-2017)“…IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic…”
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2
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets
Published in PLoS genetics (01-06-2013)“…Genome-wide association studies have mainly relied on common HapMap sequence variations. Recently, sequencing approaches have allowed analysis of low frequency…”
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3
Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis
Published in Nature communications (20-01-2020)“…Asthma is one of the most common chronic diseases affecting both children and adults. We report a genome-wide association meta-analysis of 69,189 cases and…”
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4
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
Published in Nature genetics (01-02-2019)“…Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide…”
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5
Large-scale whole-genome sequencing of the Icelandic population
Published in Nature genetics (01-05-2015)“…Kari Stefansson and colleagues report the whole-genome sequencing of 2,636 individuals from Iceland to a median of 20× coverage, providing a valuable genomic…”
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6
Identification of sequence variants influencing immunoglobulin levels
Published in Nature genetics (01-08-2017)“…Ingileif Jonsdottir, Björn Nilsson, Kari Stefansson and colleagues perform a genome-wide association study for immunoglobulin levels in Icelandic and Swedish…”
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7
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease
Published in Nature genetics (01-06-2016)“…Kari Stefansson and colleagues report discovery of 13 variants with large effects on non-HDL cholesterol, LDL cholesterol, HDL cholesterol or triglyceride…”
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8
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases
Published in PLoS genetics (01-07-2010)“…Chronic kidney disease (CKD) is a worldwide public health problem that is associated with substantial morbidity and mortality. To search for sequence variants…”
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9
Common and rare variants associated with kidney stones and biochemical traits
Published in Nature communications (14-08-2015)“…Kidney stone disease is a complex disorder with a strong genetic component. We conducted a genome-wide association study of 28.3 million sequence variants…”
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10
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease
Published in European heart journal (14-06-2018)“…Abstract Aims Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from…”
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11
Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
Published in Nature communications (08-11-2018)“…Benign prostatic hyperplasia and associated lower urinary tract symptoms (BPH/LUTS) are common conditions affecting the majority of elderly males. Here we…”
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12
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
Published in Nature (London) (23-05-2013)“…Analysis of whole-genome sequence data of Icelandic individuals has revealed a rare nonsense mutation within the LGR4 gene that is strongly associated with,…”
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13
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
Published in Nature genetics (01-03-2009)“…Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the…”
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14
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
Published in Nature communications (03-02-2016)“…Creatine kinase (CK) and lactate dehydrogenase (LDH) are widely used markers of tissue damage. To search for sequence variants influencing serum levels of CK…”
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15
Discovery of common variants associated with low TSH levels and thyroid cancer risk
Published in Nature genetics (01-03-2012)“…Julius Gudmundsson and colleagues report a genome-wide association study for circulating levels of thyroid-stimulating hormone in 27,758 individuals not known…”
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16
Rare mutations associating with serum creatinine and chronic kidney disease
Published in Human molecular genetics (20-12-2014)“…Chronic kidney disease (CKD) is a complex disorder with a strong genetic component. A number of common sequence variants have been found to associate with…”
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17
Sequence variants associating with urinary biomarkers
Published in Human molecular genetics (01-04-2019)“…Abstract Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental…”
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18
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma
Published in Nature communications (26-05-2015)“…Multiple myeloma (MM) is characterized by an uninhibited, clonal growth of plasma cells. While first-degree relatives of patients with MM show an increased…”
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19
Identification of low-frequency variants associated with gout and serum uric acid levels
Published in Nature genetics (01-11-2011)“…We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were…”
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20
Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes
Published in Journal of the American College of Cardiology (17-12-2019)“…Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) that affects cardiovascular…”
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