- Opin vísindi
- →
- Browsing by Subject
JavaScript is disabled for your browser. Some features of this site may not work without it.
Browsing by Subject "Arfgengi"
Now showing items 1-15 of 15
-
(Springer Nature, 2017-04-28)HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The ... -
(2022-01-12)Background: Breathlessness is a major cause of suffering and disability globally. The symptom relates to multiple factors including asthma and lung function, which are influenced by hereditary factors. No study has evaluated potential inheritance of ...
-
(Springer Nature, 2017-05-03)Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch ...
-
(MDPI AG, 2019-01-02)The aim of this study was to determine if increased mortality associated with low levels of serum 25-hydroxyvitamin D (25(OH)D) reflects a causal relationship by using a Mendelian randomisation (MR) approach with genetic variants in the vitamin D ...
-
(University of Iceland, School of Health Sciences, Faculty of Medicine, 2019-09)The overall aim of this PhD thesis was to cohesively assess the availability and use of electronic genealogy databases and information from cancer registries to construct electronically generated pedigrees for risk assessment in genetic counselling. ...
-
(2020-12)Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate with preeclampsia in the maternal ...
-
(Springer Nature, 2018-03-07)Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 controls with a follow-up ...
-
(Springer Nature, 2017-07-19)Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) ...
-
(2022-04-08)Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant ...
-
(2021-08)The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous ...
-
(Acta Universitatis Upsaliensis, 2015)Domestic animals have rich phenotypic diversity that can be explored to advance our understanding of the relationship between molecular genetics and phenotypic variation. Since the advent of second generation sequencing, it has become easier to ...
-
(Springer Science and Business Media LLC, 2020-05-21)The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) ...
-
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity (Springer Science and Business Media LLC, 2019-01-22)Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses ...
-
(University of Iceland, School of Health Sciences, Faculty of Medicine, 2017-06)Arfgeng heilablæðing (Hereditary cystatin C amyloid angiopathy (HCCAA)) er séríslenskur mýlildissjúkdómur, sem erfist ókynbundið ríkjandi og stafar af stökkbreytingu í cystatin C geninu, CST3. HCCAA tilheyrir fjölbreyttum hópi sjúkdóma sem heita cerebral ...
-
(Springer Science and Business Media LLC, 2020-09-15)An association between schizophrenia and subsequent breast cancer has been suggested; however the risk of schizophrenia following a breast cancer is unknown. Moreover, the driving forces of the link are largely unclear. Here, we report the phenotypic ...
Now showing items 1-15 of 15