Daniel F Gudbjartsson

Summary

Affiliation: deCODE Genetics
Country: Iceland

Publications

  1. ncbi request reprint Variants conferring risk of atrial fibrillation on chromosome 4q25
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 448:353-7. 2007
  2. pmc Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases
    Daniel F Gudbjartsson
    deCODE Genetics, Reykjavik, Iceland
    PLoS Genet 6:e1001039. 2010
  3. doi request reprint Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 41:342-7. 2009
  4. doi request reprint Many sequence variants affecting diversity of adult human height
    Daniel F Gudbjartsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nat Genet 40:609-15. 2008
  5. pmc A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke
    Daniel F Gudbjartsson
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 41:876-8. 2009
  6. doi request reprint ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:886-91. 2008
  7. doi request reprint Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
    Thorunn Rafnar
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 41:221-7. 2009
  8. pmc Parental origin of sequence variants associated with complex diseases
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 462:868-74. 2009
  9. doi request reprint Fine-scale recombination rate differences between sexes, populations and individuals
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 467:1099-103. 2010
  10. pmc New common variants affecting susceptibility to basal cell carcinoma
    Simon N Stacey
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 41:909-14. 2009

Detail Information

Publications56

  1. ncbi request reprint Variants conferring risk of atrial fibrillation on chromosome 4q25
    Daniel 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...
  2. pmc Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases
    Daniel 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))...
  3. doi request reprint Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
    Daniel 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)...
  4. doi request reprint Many sequence variants affecting diversity of adult human height
    Daniel 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...
  5. pmc A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke
    Daniel 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...
  6. doi request reprint ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
    Daniel 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...
  7. doi request reprint Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
    Thorunn 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...
  8. pmc Parental origin of sequence variants associated with complex diseases
    Augustine 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...
  9. doi request reprint Fine-scale recombination rate differences between sexes, populations and individuals
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 467:1099-103. 2010
    ....
  10. pmc New common variants affecting susceptibility to basal cell carcinoma
    Simon 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...
  11. doi request reprint Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
    Simon 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...
  12. doi request reprint Two newly identified genetic determinants of pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:835-7. 2008
    ....
  13. ncbi request reprint Genetic determinants of hair, eye and skin pigmentation in Europeans
    Patrick 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...
  14. ncbi request reprint A common variant on chromosome 9p21 affects the risk of myocardial infarction
    Anna 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...
  15. pmc A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer
    Julius 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...
  16. pmc A rare variant in MYH6 is associated with high risk of sick sinus syndrome
    Hilma 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...
  17. doi request reprint New sequence variants associated with bone mineral density
    Unnur 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...
  18. doi request reprint Sequence variants in the RNF212 gene associate with genome-wide recombination rate
    Augustine 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...
  19. doi request reprint Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
    Valgerdur Steinthorsdottir
    deCODE Genetics Amgen, Inc, Reykjavik, Iceland
    Nat Genet 46:294-8. 2014
    ..23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 × 10(-7)). ..
  20. doi request reprint A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
    Thorgeir 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...
  21. pmc Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk
    Thorunn 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...
  22. doi request reprint Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
    Unnur Styrkarsdottir
    deCODE Genetics Amgen, 101 Reykjavik, Iceland
    Nature 497:517-20. 2013
    ..Interestingly, the phenotype of carriers of the c.376C>T mutation overlaps that of Lgr4 mutant mice...
  23. doi request reprint Detection of sharing by descent, long-range phasing and haplotype imputation
    Augustine 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...
  24. pmc Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus
    Simon 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...
  25. pmc Genetic correction of PSA values using sequence variants associated with PSA levels
    Julius 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...
  26. pmc Rate of de novo mutations and the importance of father's age to disease risk
    Augustine 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...
  27. pmc Discovery of common variants associated with low TSH levels and thyroid cancer risk
    Julius 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...
  28. pmc A sequence variant on 17q21 is associated with age at onset and severity of asthma
    Eva 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...
  29. doi request reprint Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density
    Gudmar 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)...
  30. doi request reprint Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
    Gudmar 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...
  31. ncbi request reprint Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
    Gudmar 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...
  32. doi request reprint Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism
    Anna 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...
  33. doi request reprint Evaluating differences in linkage disequilibrium between populations
    Birgir Hrafnkelsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Ann Hum Genet 74:233-47. 2010
    ....
  34. ncbi request reprint A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction
    Anna 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...
  35. doi request reprint Several common variants modulate heart rate, PR interval and QRS duration
    Hilma 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...
  36. doi request reprint A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
    Hannes Helgason
    1 deCODE Genetics Amgen, Reykjavik, Iceland 2 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland 3
    Nat Genet 45:1371-4. 2013
    ..Lys155Gln substitution reduces C3b binding to complement factor H, potentially creating resistance to inhibition by this factor. This resistance to inhibition in turn is predicted to result in enhanced complement activation...
  37. pmc Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family
    Laufey T Amundadottir
    deCODE Genetics, Reykjavik, Iceland
    PLoS Med 1:e65. 2004
    ....
  38. ncbi request reprint A common inversion under selection in Europeans
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, 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...
  39. pmc Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility
    Julius 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...
  40. pmc Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations
    Julius 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))...
  41. pmc A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
    Simon 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)...
  42. doi request reprint Identification of low-frequency variants associated with gout and serum uric acid levels
    Patrick 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...
  43. doi request reprint Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche
    Patrick 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...
  44. doi request reprint Common and low-frequency variants associated with genome-wide recombination rate
    Augustine Kong
    1 deCODE Genetics Amgen, Inc, Reykjavik, Iceland 2 Faculty of Physical Sciences, School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
    Nat Genet 46:11-6. 2014
    ..Two are low-frequency variants with large effects, one of which is estimated to increase the male and female genetic maps by 111 and 416 cM, respectively. This variant, located in an intron, would not be found by exome sequencing. ..
  45. ncbi request reprint Recombination rate and reproductive success in humans
    Augustine 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...
  46. doi request reprint Mutations in BRIP1 confer high risk of ovarian cancer
    Thorunn 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...
  47. doi request reprint An algorithm for detecting high frequency copy number polymorphisms using SNP arrays
    Bjarni 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...
  48. doi request reprint Multiple genetic loci for bone mineral density and fractures
    Unnur 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...
  49. ncbi request reprint A genetic contribution to inflammatory bowel disease in Iceland: a genealogic approach
    Inga 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...
  50. ncbi request reprint Familial risk of lung carcinoma in the Icelandic population
    Steinn Jonsson
    Department of Medicine, Landspitali University Hospital, Reykjavik, Iceland
    JAMA 292:2977-83. 2004
    ..The dominant role of tobacco smoke as a causative factor in lung carcinoma is well established; however, an inherited predisposition may also be an important factor in the susceptibility to lung carcinoma...
  51. pmc Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption
    Patrick 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...
  52. pmc European bone mineral density loci are also associated with BMD in East-Asian populations
    Unnur 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...
  53. pmc A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting
    Ari 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...
  54. doi request reprint An association between the kinship and fertility of human couples
    Agnar Helgason
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Science 319:813-6. 2008
    ....
  55. ncbi request reprint A high-resolution recombination map of the human genome
    Augustine Kong
    deCODE Genetics, Sturlugotu 8, IS 101 Reykjavik, Iceland
    Nat Genet 31:241-7. 2002
    ....
  56. ncbi request reprint 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...