Research Topics
Genomes and Genes
| Daniel F GudbjartssonSummaryAffiliation: deCODE Genetics Country: Iceland Publications
| Collaborators
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Detail Information
Publications
Variants conferring risk of atrial fibrillation on chromosome 4q25Daniel F Gudbjartsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nature 448:353-7. 2007..42 per copy. A stronger association was observed in individuals with typical atrial flutter. Both variants are adjacent to PITX2, which is known to have a critical function in left-right asymmetry of the heart...
Many sequence variants affecting diversity of adult human heightDaniel F Gudbjartsson
deCODE Genetics, 101 Reykjavik, Iceland
Nat Genet 40:609-15. 2008..Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene...
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseasesDaniel F Gudbjartsson
deCODE Genetics, Reykjavik, Iceland
PLoS Genet 6:e1001039. 2010..0064), and suggestively with gout. In contrast to CKD, the UMOD variant confers protection against kidney stones when studied in 3,617 Icelandic and Dutch kidney stone cases and 43,201 controls (OR = 0.88, P = 5.7 x 10(-5))...- A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic strokeDaniel F Gudbjartsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:876-8. 2009..21, P = 1.4 x 10(-10)). This variant also associated with ischemic stroke (OR = 1.11, P = 0.00054) and cardioembolic stroke (OR = 1.22, P = 0.00021) in a combined analysis of five stroke samples... - ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinomaDaniel F Gudbjartsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:886-91. 2008..14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation... - Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarctionDaniel F Gudbjartsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 41:342-7. 2009..2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls)... - Parental origin of sequence variants associated with complex diseasesAugustine Kong
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nature 462:868-74. 2009..We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site... - Sequence variants at the TERT-CLPTM1L locus associate with many cancer typesThorunn Rafnar
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 41:221-7. 2009..However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene... - Fine-scale recombination rate differences between sexes, populations and individualsAugustine Kong
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nature 467:1099-103. 2010.... - Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traitsSimon N Stacey
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:1313-8. 2008..Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers... - Two newly identified genetic determinants of pigmentation in EuropeansPatrick Sulem
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 40:835-7. 2008.... - New common variants affecting susceptibility to basal cell carcinomaSimon N Stacey
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:909-14. 2009..Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma... - Genetic determinants of hair, eye and skin pigmentation in EuropeansPatrick Sulem
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 39:1443-52. 2007..3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R... - A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancerJulius Gudmundsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 44:1326-9. 2012..26 years younger than non-carriers (P = 0.0059). We also report results for a previously described HOXB13 variant (rs138213197[T]), confirming it as a prostate cancer risk variant in populations from across Europe... - A rare variant in MYH6 is associated with high risk of sick sinus syndromeHilma Holm
deCODE Genetics, Sturlugata 8, Reykjavik, Iceland
Nat Genet 43:316-20. 2011..53 and P = 1.5 × 10⁻²⁹. We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant... - New sequence variants associated with bone mineral densityUnnur Styrkarsdottir
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:15-7. 2009..Furthermore, nonsynonymous SNPs in the C17orf53, LRP4, ADAM19 and IBSP genes were suggestively associated with bone density... - A common variant on chromosome 9p21 affects the risk of myocardial infarctionAnna Helgadottir
deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
Science 316:1491-3. 2007..64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases... - Sequence variants in the RNF212 gene associate with genome-wide recombination rateAugustine Kong
deCODE Genetics Inc, 101 Reykjavik, Iceland
Science 319:1398-401. 2008..Consequently, if the frequency of the haplotype changes, the average recombination rate will increase for one sex and decrease for the other, but the sex-averaged recombination rate of the population can stay relatively constant... - Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locusSimon N Stacey
deCODE Genetics, Reykjavik, Iceland
PLoS Genet 6:e1001029. 2010..These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping... - Detection of sharing by descent, long-range phasing and haplotype imputationAugustine Kong
deCODE Genetics, Reykjavik, Iceland
Nat Genet 40:1068-75. 2008..A further extension of the method allows us to impute long haplotypes for individuals who are not genotyped... - Rate of de novo mutations and the importance of father's age to disease riskAugustine Kong
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nature 488:471-5. 2012..These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism... - Discovery of common variants associated with low TSH levels and thyroid cancer riskJulius Gudmundsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 44:319-22. 2012..A strong association (P = 9.1 × 10(-91)) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood... - Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral densityGudmar Thorleifsson
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 41:926-30. 2009..The same variants were also found to associate with reduced bone mineral density at the hip (P = 0.00039) and spine (P = 0.0077)... - Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer riskThorunn Rafnar
deCODE Genetics, Department of Medical Oncology, Landspitali University Hospital, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
Cancer Res 71:1356-61. 2011..Our data show that 1 or more lung cancer risk variants of genome-wide significance and distinct from the coding variants in TP53BP1 are located at 15q15.2... - A common inversion under selection in EuropeansHreinn Stefansson
deCODE Genetics, Sturlugata 8, , Iceland
Nat Genet 37:129-37. 2005..Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers... - A sequence variant on 17q21 is associated with age at onset and severity of asthmaEva Halapi
Population Genomics, deCODE Genetics Inc, Sturlugata 8, Reykjavik, Iceland
Eur J Hum Genet 18:902-8. 2010..Thus, the contribution of rs7216389-T to the development of asthma is unlikely to operate only through an impact on the expression of ORMDL3 or GSDMB genes... - Genome-wide association yields new sequence variants at seven loci that associate with measures of obesityGudmar Thorleifsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:18-24. 2009..6 x 10(-7). This includes previously identified variants close to or in the FTO, MC4R, BDNF and SH2B1 genes, in addition to variants at seven loci not previously connected with obesity... - Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucomaGudmar Thorleifsson
deCODE Genetics Inc, 101 Reykjavik, Iceland
Science 317:1397-400. 2007..The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG... - Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolismAnna Helgadottir
Population Genomics, deCODE Genetics, Reykjavik, Iceland
J Am Coll Cardiol 60:722-9. 2012..The purpose of this study is investigate the effects of variants in the apolipoprotein(a) gene (LPA) on vascular diseases with different atherosclerotic and thrombotic components... - A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarctionAnna Helgadottir
deCODE Genetics, Inc, Sturlugata 8, IS 101 Reykjavik, Iceland
Nat Genet 38:68-74. 2006..Interactions with other genetic or environmental risk factors that are more common in African Americans are likely to account for the greater relative risk conferred by HapK in this group... - Genetic correction of PSA values using sequence variants associated with PSA levelsJulius Gudmundsson
deCODE Genetics, IS 101 Reykjavik, Iceland
Sci Transl Med 2:62ra92. 2010..We propose that a personalized PSA cutoff value, based on genotype, should be used when deciding to perform a prostate biopsy... - Evaluating differences in linkage disequilibrium between populationsBirgir Hrafnkelsson
deCODE Genetics, 101 Reykjavik, Iceland
Ann Hum Genet 74:233-47. 2010.... - Several common variants modulate heart rate, PR interval and QRS durationHilma Holm
deCODE Genetics, Reykjavik, Iceland
Nat Genet 42:117-22. 2010..00032, respectively), between TBX5 and advanced atrioventricular block (P = 0.0067), and between SCN10A and pacemaker implantation (P = 0.0029). We also replicated previously described associations with the QT interval... - A variant associated with nicotine dependence, lung cancer and peripheral arterial diseaseThorgeir E Thorgeirsson
deCODE Genetics, 101 Reykjavik, Iceland
Nature 452:638-42. 2008..The findings provide a case study of a gene-environment interaction, highlighting the role of nicotine addiction in the pathology of other serious diseases... - A germline variant in the TP53 polyadenylation signal confers cancer susceptibilitySimon N Stacey
deCODE Genetics, Reykjavik, Iceland
Nat Genet 43:1098-103. 2011..35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27)... - Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibilityJulius Gudmundsson
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:1122-6. 2009..3% of the risk distribution are at a 2.5 times greater risk of developing the disease than members of the general population... - Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populationsJulius Gudmundsson
deCODE Genetics, Sturlugata 8, Reykjavik, Iceland
Nat Genet 41:460-4. 2009..33 allele is associated with low concentration of thyroxin (T(4)) and high concentration of triiodothyronine (T(3))... - Identification of low-frequency variants associated with gout and serum uric acid levelsPatrick Sulem
deCODE Genetics, Reykjavik, Iceland
Nat Genet 43:1127-30. 2011..This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits... - Genome-wide association study identifies sequence variants on 6q21 associated with age at menarchePatrick Sulem
deCODE Genetics, Reykjavik, Iceland
Nat Genet 41:734-8. 2009..Given the link between body fat and AAM, we also assessed 11 variants recently associated with higher body mass index (BMI) and 5 of those associated with earlier AAM... - Recombination rate and reproductive success in humansAugustine Kong
deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
Nat Genet 36:1203-6. 2004..Hence, not only do recombinations have a role in evolution by yielding diverse combinations of gene variants for natural selection, but they are also under selection themselves... - Mutations in BRIP1 confer high risk of ovarian cancerThorunn Rafnar
deCODE Genetics, Reykjavik, Iceland
Nat Genet 43:1104-7. 2011..0079). Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer... - Multiple genetic loci for bone mineral density and fracturesUnnur Styrkarsdottir
deCODE Genetics, Reykjavik, Iceland
N Engl J Med 358:2355-65. 2008..Bone mineral density influences the risk of osteoporosis later in life and is useful in the evaluation of the risk of fracture. We aimed to identify sequence variants associated with bone mineral density and fracture... - Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear familyLaufey T Amundadottir
deCODE Genetics, Reykjavik, Iceland
PLoS Med 1:e65. 2004.... - An algorithm for detecting high frequency copy number polymorphisms using SNP arraysBjarni V Halldorsson
School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
J Comput Biol 18:955-66. 2011..Finally, these clusters are used to determine genotypes. The algorithm was then run on a dataset of 35,000 Icelandic individuals... - A genetic contribution to inflammatory bowel disease in Iceland: a genealogic approachInga Reynisdottir
deCODE Genetics, Inc, Reykjavik, Iceland
Clin Gastroenterol Hepatol 2:806-12. 2004..The aim of this study was to estimate the genetic component in IBD in Iceland... - Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumptionPatrick Sulem
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Hum Mol Genet 20:2071-7. 2011..AHR detects xenobiotics, such as polycyclic aryl hydrocarbons found in roasted coffee, and induces transcription of CYP1A1 and CYP1A2. The association of these SNPs with coffee consumption was present in both smokers and non-smokers... - European bone mineral density loci are also associated with BMD in East-Asian populationsUnnur Styrkarsdottir
deCODE Genetics, Reykjavik, Iceland
PLoS ONE 5:e13217. 2010..0010) and 17q21 (SOST, P = 0.015). Our study marks an early effort towards the challenge of cataloguing bone density variants shared by many ethnicities by testing BMD variants that have been established in Europeans, in East-Asians... - An association between the kinship and fertility of human couplesAgnar Helgason
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Science 319:813-6. 2008.... - A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprintingAri Karason
deCODE Genetics, Reykjavik, Iceland
Am J Hum Genet 72:125-31. 2003..03 was observed when conditioned for maternal transmission. A suggestive locus on chromosome 16q has previously been implicated in psoriasis. Our data indicate that a gene at this locus may be involved in paternal transmission of PsA... - A high-resolution recombination map of the human genomeAugustine Kong
deCODE Genetics, Sturlugotu 8, IS 101 Reykjavik, Iceland
Nat Genet 31:241-7. 2002.... - Subclinical intestinal inflammation: an inherited abnormality in Crohn's disease relatives?Bjarni Thjodleifsson
Department of Medicine, Iceland University Hospital, Reykjavik, Iceland
Gastroenterology 124:1728-37. 2003..We assessed the possible presence, prevalence, and inheritance pattern of subclinical intestinal inflammation in apparently healthy relatives of patients with Crohn's disease...