Augustine Kong

Summary

Affiliation: deCODE Genetics
Country: Iceland

Publications

  1. 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
  2. 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
  3. pmc Parental origin of sequence variants associated with complex diseases
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 462:868-74. 2009
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications90

  1. 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...
  2. 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
    ....
  3. 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...
  4. 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...
  5. 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
    ....
  6. 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...
  7. 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...
  8. 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...
  9. 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
    ....
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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)...
  17. pmc The BARD1 Cys557Ser variant and breast cancer risk in Iceland
    Simon N Stacey
    deCODE Genetics, Reykjavik, Iceland
    PLoS Med 3:e217. 2006
    ..We then used a computerized genealogy of the Icelandic population to study the relationships between the Cys557Ser variant and familial clustering of breast cancer...
  18. doi request reprint Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon N Stacey
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:703-6. 2008
    ..The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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
    ....
  24. ncbi request reprint Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
    Julius Gudmundsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:631-7. 2007
    ..The newly identified variant shows a stronger association with affected individuals who have an earlier age at diagnosis...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. pmc Common variants at VRK2 and TCF4 conferring risk of schizophrenia
    Stacy Steinberg
    deCODE Genetics, IS 101 Reykjavik, Iceland
    Hum Mol Genet 20:4076-81. 2011
    ..09, P = 1.9 × 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 × 10(-9))...
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. pmc Common variants conferring risk of schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 460:744-7. 2009
    ..2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition...
  38. 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...
  39. 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...
  40. 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...
  41. 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...
  42. 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...
  43. 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...
  44. 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...
  45. pmc Large recurrent microdeletions associated with schizophrenia
    Hreinn Stefansson
    CNS Division, deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 455:232-6. 2008
    ..CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia...
  46. ncbi request reprint A genetic risk factor for periodic limb movements in sleep
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    N Engl J Med 357:639-47. 2007
    ..It is a major cause of sleep disruption. Periodic limb movements in sleep are detectable in most patients with RLS and represent an objective physiological metric...
  47. pmc Association of neuregulin 1 with schizophrenia confirmed in a Scottish population
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 72:83-7. 2003
    ..000064 to .0021 for the allele contributing to the at-risk haplotype. This direct replication of haplotype association in a second population further implicates NRG1 as a factor that contributes to the etiology of schizophrenia...
  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 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
    ....
  50. pmc Variant in the sequence of the LINGO1 gene confers risk of essential tremor
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 41:277-9. 2009
    ..Increased axon integrity observed in Lingo1 mouse [corrected] knockout models highlights the potential role of LINGO1 in the pathophysiology of ET [corrected]..
  51. pmc Linkage of osteoporosis to chromosome 20p12 and association to BMP2
    Unnur Styrkarsdottir
    deCODE Genetics, Reykjavik, Iceland
    PLoS Biol 1:E69. 2003
    ....
  52. 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...
  53. 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...
  54. ncbi request reprint A susceptibility gene for late-onset idiopathic Parkinson's disease
    Andrew A Hicks
    deCODE Genetics, Sturlogötu 8, Reykjavik 101, Iceland
    Ann Neurol 52:549-55. 2002
    ..Identification of the susceptibility gene in this region may pave the way for a better understanding of the disease process, which, in turn, may lead to improved diagnostics and therapeutics...
  55. 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...
  56. 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))...
  57. 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...
  58. ncbi request reprint Support for involvement of the AHI1 locus in schizophrenia
    Andres Ingason
    deCODE Genetics, Reykjavik, Iceland
    Eur J Hum Genet 15:988-91. 2007
    ..Thus, our results are in general agreement with the previous report, with the strongest association signal observed in a region upstream of the AHI1 gene...
  59. pmc Variant of TREM2 associated with the risk of Alzheimer's disease
    Thorlakur Jonsson
    deCODE Genetics, Reykjavik, Iceland
    N Engl J Med 368:107-16. 2013
    ..Few rare variants affecting the risk of late-onset Alzheimer's disease have been found...
  60. 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...
  61. 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)...
  62. 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))...
  63. ncbi request reprint A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
    Ragnheidur Fossdal
    deCODE Genetics, IS 101 Reykjavik, Iceland
    Hum Mol Genet 13:975-81. 2004
    ..Therefore, we conclude that the mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal atrophy...
  64. pmc Localization of a susceptibility gene for common forms of stroke to 5q12
    Solveig Gretarsdottir
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 70:593-603. 2002
    ..This locus on 5q12, which we have designated as "STRK1," does not correspond to known susceptibility loci for stroke or for its risk factors and represents the first mapping of a locus for common stroke...
  65. ncbi request reprint Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
    Simon N Stacey
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:865-9. 2007
    ..rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone...
  66. 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...
  67. 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)...
  68. ncbi request reprint Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial
    Hakon Hakonarson
    deCODE Genetics Inc, Reykjavik, Iceland
    JAMA 293:2245-56. 2005
    ..Myocardial infarction (MI) is the leading cause of death in the world. Variants in the 5-lipoxygenase-activating protein (FLAP) gene are associated with risk of MI...
  69. 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...
  70. 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...
  71. pmc Localization of a gene for peripheral arterial occlusive disease to chromosome 1p31
    Gudmundur Gudmundsson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 70:586-92. 2002
    ..Subtracting 35 patients with a history of stroke increased the LOD score to 4.93. This suggests that, although PAOD and other vascular diseases share risk factors, genetic factors specific to subtypes of vascular disease may exist...
  72. pmc Neuregulin 1 and susceptibility to schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 71:877-92. 2002
    ..We also demonstrate that the behavioral phenotypes of the NRG1 hypomorphs are partially reversible with clozapine, an atypical antipsychotic drug used to treat schizophrenia...
  73. pmc A major susceptibility gene for asthma maps to chromosome 14q24
    Hakon Hakonarson
    deCODE Genetics, Inc, Reykjavik, Iceland
    Am J Hum Genet 71:483-91. 2002
    ..2 cM, the LOD score rose to 4.00. We designate this locus "asthma locus one" (AS1). Taken together, these results provide evidence of a novel susceptibility gene for asthma on chromosome 14q24...
  74. 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...
  75. 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...
  76. 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...
  77. pmc Anxiety with panic disorder linked to chromosome 9q in Iceland
    Thorgeir E Thorgeirsson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 72:1221-30. 2003
    ..The linkage results may be relevant not only to PD but also to anxiety in general, since our linkage study included patients with other forms of anxiety...
  78. 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...
  79. pmc Localization of a gene for migraine without aura to chromosome 4q21
    Asgeir Bjornsson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 73:986-93. 2003
    ..Further analysis indicates that the linkage evidence improves for affected females and, especially, with a slightly relaxed definition of MO (LOD=4.08; P=7.2 x 10(-6))...
  80. 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...
  81. 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...
  82. pmc Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3
    Stefan Einar Stefansson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 72:1448-59. 2003
    ..The missense mutation cosegregates with hand OA in several families. The mutation frequency is slightly more than 2% in patients with hand OA in the Icelandic population and has a relative risk of 2.1...
  83. 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...
  84. ncbi request reprint Comment on the phosphodiesterase 4D replication study by Bevan et al
    Solveig Gretarsdottir
    Stroke 36:1824. 2005
  85. pmc The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts
    Helen N Lyon
    Program in Genomics, Divisions of Genetics and Endocrinology, Children s Hospital, Boston, Massachusetts, USA
    PLoS Genet 3:e61. 2007
    ....
  86. 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...
  87. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 40:638-45. 2008
    ..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D...
  88. ncbi request reprint Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome
    Thorarinn Gislason
    Department of Pulmonary Medicine, Vifilsstadir, Gardabaer, Iceland
    Am J Respir Crit Care Med 166:833-8. 2002
    ..Collectively, these results demonstrate a strong familial component in OSAS and suggest that infants who died of SIDS may have shared some of the same susceptibility factors with OSAS...
  89. ncbi request reprint Allegro version 2
    Daniel F Gudbjartsson
    Nat Genet 37:1015-6. 2005
  90. ncbi request reprint Measuring the relative information in allele-sharing linkage studies
    Dan L Nicolae
    Department of Statistics, University of Chicago, 5734 S University Avenue, Chicago, Illinois 60637, USA
    Biometrics 60:368-75. 2004
    ..These measures are related to Fisher Information and hence are also efficiency measures. Large-sample and small-sample properties of the new and previously proposed measures of information are examined...