Gudmar Thorleifsson

Summary

Affiliation: deCODE Genetics
Country: Iceland

Publications

  1. pmc Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
    Gudmar Thorleifsson
    deCODE Genetics Inc, Reykjavik, Iceland
    Nat Genet 42:906-9. 2010
  2. 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
  3. 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
  4. pmc Parental origin of sequence variants associated with complex diseases
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 462:868-74. 2009
  5. 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
  6. 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
  7. pmc Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
    Julius Gudmundsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nat Genet 40:281-3. 2008
  8. ncbi request reprint A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
    Valgerdur Steinthorsdottir
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:770-5. 2007
  9. doi request reprint The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
    Anna Helgadottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 40:217-24. 2008
  10. 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

Detail Information

Publications55

  1. pmc Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
    Gudmar Thorleifsson
    deCODE Genetics Inc, Reykjavik, Iceland
    Nat Genet 42:906-9. 2010
    ..42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG...
  2. 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)...
  3. 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
    ....
  4. 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...
  5. 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...
  6. 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...
  7. pmc Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
    Julius Gudmundsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nat Genet 40:281-3. 2008
    ..23 and 1.15; P = 3.9 x 10(-13) and 7.7 x 10(-9), respectively). The 2p15 variant shows a significantly stronger association with more aggressive, rather than less aggressive, forms of the disease...
  8. ncbi request reprint A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
    Valgerdur Steinthorsdottir
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:770-5. 2007
    ..The insulin response for homozygotes was approximately 20% lower than for heterozygotes or noncarriers, suggesting that this variant confers risk of T2D through reduced insulin secretion...
  9. doi request reprint The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
    Anna Helgadottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 40:217-24. 2008
    ..These findings extend our insight into the role of the sequence variant tagged by rs10757278-G and show that it is not confined to atherosclerotic diseases...
  10. 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...
  11. 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...
  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 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...
  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 Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke
    Solveig Gretarsdottir
    deCODE Genetics, Reykjavik, Iceland
    Ann Neurol 64:402-9. 2008
    ..To find sequence variants that associate with the risk for ischemic stroke (IS), we performed a genome-wide association study...
  18. 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...
  19. 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...
  20. ncbi request reprint Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    Struan F A Grant
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 38:320-3. 2006
    ..It is thought to act through regulation of proglucagon gene expression in enteroendocrine cells via the Wnt signaling pathway...
  21. 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...
  22. 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...
  23. 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...
  24. ncbi request reprint Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution
    Agnar Helgason
    deCODE Genetics, 101 Reykjavik, Iceland
    Nat Genet 39:218-25. 2007
    ....
  25. 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...
  26. 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...
  27. doi request reprint Genetics of gene expression and its effect on disease
    Valur Emilsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nature 452:423-8. 2008
    ..A core network module in humans and mice was identified that is enriched for genes involved in the inflammatory and immune response and has been found to be causally associated to obesity-related traits...
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. 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)...
  33. ncbi request reprint Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
    Julius Gudmundsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:977-83. 2007
    ..Results from eight case-control groups, including one West African and one Chinese, demonstrate that this variant confers protection against type 2 diabetes...
  34. 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...
  35. doi request reprint Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
    Solveig Gretarsdottir
    Population Genomics, deCODE Genetics, Reykjavik, Iceland
    Nat Genet 42:692-7. 2010
    ..Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival...
  36. 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...
  37. 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)...
  38. 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))...
  39. 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...
  40. 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...
  41. ncbi request reprint A common variant associated with prostate cancer in European and African populations
    Laufey T Amundadottir
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 38:652-8. 2006
    ..This leads to a greater estimated PAR (16%) that may contribute to higher incidence of prostate cancer in African American men than in men of European ancestry...
  42. 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...
  43. 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...
  44. 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...
  45. pmc European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene
    Thorunn Rafnar
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Hum Mol Genet 20:4268-81. 2011
    ..If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC...
  46. ncbi request reprint The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke
    Anna Helgadottir
    deCODE Genetics, Sturlugata 8, Reykjavik, Iceland
    Nat Genet 36:233-9. 2004
    ..We conclude that variants of ALOX5AP are involved in the pathogenesis of both myocardial infarction and stroke by increasing leukotriene production and inflammation in the arterial wall...
  47. 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. ..
  48. 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...
  49. 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...
  50. ncbi request reprint The gene encoding phosphodiesterase 4D confers risk of ischemic stroke
    Solveig Gretarsdottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 35:131-8. 2003
    ..We propose that PDE4D is involved in the pathogenesis of stroke, possibly through atherosclerosis, which is the primary pathological process underlying ischemic stroke...
  51. 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...
  52. ncbi request reprint Segmental duplication density decrease with distance to human-mouse breaks of synteny
    Jesus Sainz
    deCODE Genetics, Reykjavik, Iceland
    Eur J Hum Genet 14:216-21. 2006
    ..These observations indicate that in mouse and human the frequency of segmental duplications is strongly correlated with distance to human and mouse syntenic breaks or the most dynamic regions in evolution....
  53. pmc CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD
    Kristinn P Magnusson
    deCODE Genetics, Reykjavik, Iceland
    PLoS Med 3:e5. 2006
    ..However, its impact on soft drusen, GA, or neovascular AMD--or the relationship between them--is unclear...
  54. pmc Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2
    Inga Reynisdottir
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 73:323-35. 2003
    ..Finally, we observed potential interactions between the 5q locus and two T2D susceptibility loci, previously mapped in other populations...
  55. ncbi request reprint Linkage of essential hypertension to chromosome 18q
    Kristleifur Kristjansson
    deCODE Genetics, Inc, Reykjavik, Iceland kris decode is
    Hypertension 39:1044-9. 2002
    ..1x 10(-6)). These results provide evidence for a novel susceptibility gene for essential hypertension on chromosome 18q and show that it is possible to study the genetics of essential hypertension without stratifying by subphenotypes...