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Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

https://arctichealth.org/en/permalink/ahliterature99316
Source
PLoS Genet. 2010;6(7):e1001039
Publication Type
Article
Date
2010
Author
Daniel F Gudbjartsson
Hilma Holm
Olafur S Indridason
Gudmar Thorleifsson
Vidar Edvardsson
Patrick Sulem
Femmie de Vegt
Frank C H d'Ancona
Martin den Heijer
Leifur Franzson
Thorunn Rafnar
Kristleifur Kristjansson
Unnur S Bjornsdottir
Gudmundur I Eyjolfsson
Lambertus A Kiemeney
Augustine Kong
Runolfur Palsson
Unnur Thorsteinsdottir
Kari Stefansson
Author Affiliation
deCODE genetics, Reykjavik, Iceland. daniel.gudbjartsson@decode.is
Source
PLoS Genet. 2010;6(7):e1001039
Date
2010
Language
English
Publication Type
Article
Abstract
Chronic kidney disease (CKD) is a worldwide public health problem that is associated with substantial morbidity and mortality. To search for sequence variants that associate with CKD, we conducted a genome-wide association study (GWAS) that included a total of 3,203 Icelandic cases and 38,782 controls. We observed an association between CKD and a variant with 80% population frequency, rs4293393-T, positioned next to the UMOD gene (GeneID: 7369) on chromosome 16p12 (OR = 1.25, P = 4.1x10(-10)). This gene encodes uromodulin (Tamm-Horsfall protein), the most abundant protein in mammalian urine. The variant also associates significantly with serum creatinine concentration (SCr) in Icelandic subjects (N = 24,635, P = 1.3 x 10(-23)) but not in a smaller set of healthy Dutch controls (N = 1,819, P = 0.39). Our findings validate the association between the UMOD variant and both CKD and SCr recently discovered in a large GWAS. In the Icelandic dataset, we demonstrate that the effect on SCr increases substantially with both age (P = 3.0 x 10(-17)) and number of comorbid diseases (P = 0.008). The association with CKD is also stronger in the older age groups. These results suggest that the UMOD variant may influence the adaptation of the kidney to age-related risk factors of kidney disease such as hypertension and diabetes. The variant also associates with serum urea (P = 1.0 x 10(-6)), uric acid (P = 0.0064), 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)).
PubMed ID
20686651 View in PubMed
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Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family.

https://arctichealth.org/en/permalink/ahliterature17282
Source
PLoS Med. 2004 Dec;1(3):e65
Publication Type
Article
Date
Dec-2004
Author
Laufey T Amundadottir
Sverrir Thorvaldsson
Daniel F Gudbjartsson
Patrick Sulem
Kristleifur Kristjansson
Sigurdur Arnason
Jeffrey R Gulcher
Johannes Bjornsson
Augustine Kong
Unnur Thorsteinsdottir
Kari Stefansson
Author Affiliation
deCODE Genetics, Reykjavik, Iceland. laufey.amundadottir@decode.is
Source
PLoS Med. 2004 Dec;1(3):e65
Date
Dec-2004
Language
English
Publication Type
Article
Abstract
BACKGROUND: The contribution of low-penetrant susceptibility variants to cancer is not clear. With the aim of searching for genetic factors that contribute to cancer at one or more sites in the body, we have analyzed familial aggregation of cancer in extended families based on all cancer cases diagnosed in Iceland over almost half a century. METHODS AND FINDINGS: We have estimated risk ratios (RRs) of cancer for first- and up to fifth-degree relatives both within and between all types of cancers diagnosed in Iceland from 1955 to 2002 by linking patient information from the Icelandic Cancer Registry to an extensive genealogical database, containing all living Icelanders and most of their ancestors since the settlement of Iceland. We evaluated the significance of the familial clustering for each relationship separately, all relationships combined (first- to fifth-degree relatives) and for close (first- and second-degree) and distant (third- to fifth-degree) relatives. Most cancer sites demonstrate a significantly increased RR for the same cancer, beyond the nuclear family. Significantly increased familial clustering between different cancer sites is also documented in both close and distant relatives. Some of these associations have been suggested previously but others not. CONCLUSION: We conclude that genetic factors are involved in the etiology of many cancers and that these factors are in some cases shared by different cancer sites. However, a significantly increased RR conferred upon mates of patients with cancer at some sites indicates that shared environment or nonrandom mating for certain risk factors also play a role in the familial clustering of cancer. Our results indicate that cancer is a complex, often non-site-specific disease for which increased risk extends beyond the nuclear family.
PubMed ID
15630470 View in PubMed
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Cancer incidence among Icelandic deck officers in a population-based study.

https://arctichealth.org/en/permalink/ahliterature18472
Source
Scand J Work Environ Health. 2003 Apr;29(2):100-5
Publication Type
Article
Date
Apr-2003
Author
Patrick Sulem
Vilhálmur Rafnsson
Author Affiliation
Department of Preventive Medicine, University of Iceland, Reykjavik, Iceland.
Source
Scand J Work Environ Health. 2003 Apr;29(2):100-5
Date
Apr-2003
Language
English
Publication Type
Article
Keywords
Adult
Age Distribution
Aged
Cause of Death
Cohort Studies
Confidence Intervals
Humans
Iceland - epidemiology
Incidence
Male
Middle Aged
Neoplasms - epidemiology - etiology - pathology
Occupational Diseases - diagnosis - epidemiology
Occupational Exposure - adverse effects
Occupations
Population Surveillance
Probability
Research Support, Non-U.S. Gov't
Retrospective Studies
Risk factors
Smoking - adverse effects - epidemiology
Survival Analysis
Abstract
OBJECTIVES: The aim of this study was to define the cancer pattern in an Icelandic cohort of deck officers while indirectly controlling for their smoking habits. METHODS: A cohort of 3874 male deck officers was followed from 1966 to 1998. It was record-linked by the deck officers' personal identification numbers to population-based registers containing each person's vital and emigration status and cancer diagnosis. Standardized incidence ratios (SIR) were calculated for all cancers and different cancer sites in relation to different lag times and years of birth. Information on smoking habits was obtained by from a questionnaire administered to a sample of the cohort (N=728). RESULTS: In the total cohort 436 cancers were observed, equal to the expected 436 [SIR 1.0, 95% confidence interval (95% CI) 0.9-1.1], and a significantly increased risk of soft-tissue sarcoma (SIR 2.7, 95% CI 1.2-5.1) was found together with a decreased risk of testis cancer (SIR 0.0, 95% CI .. -0.7) and urinary bladder cancer (SIR 0.5, 95% CI 0.3-0.8). The deck officers' smoking habits were similar to those found in a sample of the general population. The predictive value was 1.11 for lung cancer CONCLUSIONS: An increased incidence of soft-tissue sarcoma was found among deck officers. This increase resembles that previously found for Swedish deck officers, and it warrants further study.
PubMed ID
12718495 View in PubMed
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Cancer incidence among marine engineers, a population-based study (Iceland).

https://arctichealth.org/en/permalink/ahliterature18488
Source
Cancer Causes Control. 2003 Feb;14(1):29-35
Publication Type
Article
Date
Feb-2003
Author
Vilhjalmur Rafnsson
Patrick Sulem
Author Affiliation
Department of Preventive Medicine, University of Iceland, Soltun 1, 105 Reykjavik, Iceland. vilraf@hi.is
Source
Cancer Causes Control. 2003 Feb;14(1):29-35
Date
Feb-2003
Language
English
Publication Type
Article
Keywords
Adult
Cohort Studies
Engineering
Humans
Iceland - epidemiology
Incidence
Male
Middle Aged
Neoplasms - epidemiology
Occupational Diseases - epidemiology
Population Surveillance
Research Support, Non-U.S. Gov't
Smoking - adverse effects
Abstract
OBJECTIVES: Marine engineers are in their occupation exposed to different chemicals, organic solvents, exhaust gases, oils, and petroleum products, and were formerly exposed to asbestos. The aim was to study the cancer pattern, with particular attention to lung and bladder cancer, in an Icelandic cohort of marine engineers, indirectly controlling for their smoking habits. METHODS: A cohort of 6603 male marine engineers was followed up from 1955 to 1998, a total of 167,715 person-years. The cohort was record linked by the engineers' personal identification numbers to population-based registers containing the vital and emigration status and cancer diagnosis. Standardized incidence ratios (SIRs) were calculated for all cancers and different cancer sites in relation to different lag time and year of graduation. Information on smoking habits was obtained by administering a questionnaire to a sample of the cohort (n = 1,501). RESULTS: In the total cohort 810 cancers were observed, whereas 794 were expected (SIR 1.0, 95% CI 1.0-1.1), and significantly increased risk of stomach cancer (SIR 1.3, 95% CI 1.0-1.5) and lung cancer (SIR 1.2, 95% CI 1.0-1.5) was found. Increased risk of all cancers (SIR 1.2, 95% CI 1.1-1.3), stomach cancer (SIR 1.5, 95% CI 1.1-1.9), lung cancer (SIR 1.4, 95% CI 1.2-1.8), pleural mesothelioma (SIR 4.8, 95% CI 1.3-12.3), and urinary bladder cancer (SIR 1.3, 95% CI 1.0-1.8) were observed when a 40-year lag time was applied. The engineers' smoking habits were similar to those in a sample of the general population. The predictive value for lung cancer was 1.03. CONCLUSIONS: The increased risk for mesothelioma is possibly attributable to the previous asbestos exposure. The excess of lung cancer could also be related to asbestos exposure. The high incidence of stomach cancer, lung cancer, and bladder cancer may be related to exposure to chemical risk factors, such as oils and petroleum products, as confounding due to smoking seems to be ruled out. In the light of the limited exposure information in the present study the importance of the different occupational exposures needs to be evaluated in further studies.
PubMed ID
12708722 View in PubMed
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Characterizing mutagenic effects of recombination through a sequence-level genetic map.

https://arctichealth.org/en/permalink/ahliterature302150
Source
Science. 2019 Jan 25; 363(6425):
Publication Type
Journal Article
Date
Jan-25-2019
Author
Bjarni V Halldorsson
Gunnar Palsson
Olafur A Stefansson
Hakon Jonsson
Marteinn T Hardarson
Hannes P Eggertsson
Bjarni Gunnarsson
Asmundur Oddsson
Gisli H Halldorsson
Florian Zink
Sigurjon A Gudjonsson
Michael L Frigge
Gudmar Thorleifsson
Asgeir Sigurdsson
Simon N Stacey
Patrick Sulem
Gisli Masson
Agnar Helgason
Daniel F Gudbjartsson
Unnur Thorsteinsdottir
Kari Stefansson
Author Affiliation
deCODE genetics, Amgen, Sturlugata 8, Reykjavik, Iceland. bjarnih@decode.is kstefans@decode.is.
Source
Science. 2019 Jan 25; 363(6425):
Date
Jan-25-2019
Language
English
Publication Type
Journal Article
Keywords
Chromosome Mapping
Crossing Over, Genetic
DNA Mutational Analysis
Epigenesis, Genetic
Female
Genome-Wide Association Study
Genotyping Techniques
Humans
Iceland
Male
Maternal Age
Mutation Rate
Oligonucleotide Array Sequence Analysis
Polymorphism, Single Nucleotide
Synaptonemal Complex
Abstract
Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype and whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations and 200,435 DNMs. The resulting genetic map has a resolution of 682 base pairs. Crossovers exhibit a mutagenic effect, with overrepresentation of DNMs within 1 kilobase of crossovers in males and females. In females, a higher mutation rate is observed up to 40 kilobases from crossovers, particularly for complex crossovers, which increase with maternal age. We identified 35 loci associated with the recombination rate or the location of crossovers, demonstrating extensive genetic control of meiotic recombination, and our results highlight genes linked to the formation of the synaptonemal complex as determinants of crossovers.
Notes
ErratumIn: Science. 2019 Feb 8;363(6427): PMID 30733390
PubMed ID
30679340 View in PubMed
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Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.

https://arctichealth.org/en/permalink/ahliterature308420
Source
Cancer Epidemiol Biomarkers Prev. 2020 01; 29(1):225-235
Publication Type
Comparative Study
Journal Article
Research Support, N.I.H., Extramural
Date
01-2020
Author
Sigurgeir Olafsson
Kristjan F Alexandersson
Johann G K Gizurarson
Katrin Hauksdottir
Orvar Gunnarsson
Karl Olafsson
Julius Gudmundsson
Simon N Stacey
Gardar Sveinbjornsson
Jona Saemundsdottir
Einar S Bjornsson
Sigurdur Olafsson
Sigurdur Bjornsson
Kjartan B Orvar
Arnor Vikingsson
Arni J Geirsson
Sturla Arinbjarnarson
Gyda Bjornsdottir
Thorgeir E Thorgeirsson
Snaevar Sigurdsson
Gisli H Halldorsson
Olafur T Magnusson
Gisli Masson
Hilma Holm
Ingileif Jonsdottir
Olof Sigurdardottir
Gudmundur I Eyjolfsson
Isleifur Olafsson
Patrick Sulem
Unnur Thorsteinsdottir
Thorvaldur Jonsson
Thorunn Rafnar
Daniel F Gudbjartsson
Kari Stefansson
Author Affiliation
deCODE genetics/AMGEN, Reykjavik, Iceland.
Source
Cancer Epidemiol Biomarkers Prev. 2020 01; 29(1):225-235
Date
01-2020
Language
English
Publication Type
Comparative Study
Journal Article
Research Support, N.I.H., Extramural
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Biomarkers, Tumor - blood - genetics
Child
Child, Preschool
Female
Gene Frequency
Genome-Wide Association Study
Humans
Iceland - epidemiology
Infant
Infant, Newborn
Male
Middle Aged
Neoplasms - blood - diagnosis - epidemiology - genetics
Polymorphism, Single Nucleotide
Predictive value of tests
Reference Values
Registries - statistics & numerical data
Sequence Analysis, RNA
Whole Genome Sequencing
Young Adult
Abstract
Alpha-fetoprotein (AFP), cancer antigens 15.3, 19.9, and 125, carcinoembryonic antigen, and alkaline phosphatase (ALP) are widely measured in attempts to detect cancer and to monitor treatment response. However, due to lack of sensitivity and specificity, their utility is debated. The serum levels of these markers are affected by a number of nonmalignant factors, including genotype. Thus, it may be possible to improve both sensitivity and specificity by adjusting test results for genetic effects.
We performed genome-wide association studies of serum levels of AFP (N = 22,686), carcinoembryonic antigen (N = 22,309), cancer antigens 15.3 (N = 7,107), 19.9 (N = 9,945), and 125 (N = 9,824), and ALP (N = 162,774). We also examined the correlations between levels of these biomarkers and the presence of cancer, using data from a nationwide cancer registry.
We report a total of 84 associations of 79 sequence variants with levels of the six biomarkers, explaining between 2.3% and 42.3% of the phenotypic variance. Among the 79 variants, 22 are cis (in- or near the gene encoding the biomarker), 18 have minor allele frequency less than 1%, 31 are coding variants, and 7 are associated with gene expression in whole blood. We also find multiple conditions associated with higher biomarker levels.
Our results provide insights into the genetic contribution to diversity in concentration of tumor biomarkers in blood.
Genetic correction of biomarker values could improve prediction algorithms and decision-making based on these biomarkers.
PubMed ID
31666285 View in PubMed
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Common and rare variants associated with kidney stones and biochemical traits.

https://arctichealth.org/en/permalink/ahliterature272227
Source
Nat Commun. 2015;6:7975
Publication Type
Article
Date
2015
Author
Asmundur Oddsson
Patrick Sulem
Hannes Helgason
Vidar O Edvardsson
Gudmar Thorleifsson
Gardar Sveinbjörnsson
Eik Haraldsdottir
Gudmundur I Eyjolfsson
Olof Sigurdardottir
Isleifur Olafsson
Gisli Masson
Hilma Holm
Daniel F Gudbjartsson
Unnur Thorsteinsdottir
Olafur S Indridason
Runolfur Palsson
Kari Stefansson
Source
Nat Commun. 2015;6:7975
Date
2015
Language
English
Publication Type
Article
Keywords
Genetic Predisposition to Disease
Genetic Variation
Genome, Human
Genome-Wide Association Study
Humans
Iceland - epidemiology
Kidney Calculi - epidemiology - genetics
Odds Ratio
Quantitative Trait Loci
Abstract
Kidney stone disease is a complex disorder with a strong genetic component. We conducted a genome-wide association study of 28.3 million sequence variants detected through whole-genome sequencing of 2,636 Icelanders that were imputed into 5,419 kidney stone cases, including 2,172 cases with a history of recurrent kidney stones, and 279,870 controls. We identify sequence variants associating with kidney stones at ALPL (rs1256328[T], odds ratio (OR)=1.21, P=5.8 ? 10(-10)) and a suggestive association at CASR (rs7627468[A], OR=1.16, P=2.0 ? 10(-8)). Focusing our analysis on coding sequence variants in 63 genes with preferential kidney expression we identify two rare missense variants SLC34A1 p.Tyr489Cys (OR=2.38, P=2.8 ? 10(-5)) and TRPV5 p.Leu530Arg (OR=3.62, P=4.1 ? 10(-5)) associating with recurrent kidney stones. We also observe associations of the identified kidney stone variants with biochemical traits in a large population set, indicating potential biological mechanism.
Notes
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Comment In: Nat Rev Urol. 2015 Oct;12(10):53626334086
PubMed ID
26272126 View in PubMed
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Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.

https://arctichealth.org/en/permalink/ahliterature273678
Source
Nat Commun. 2016;7:10572
Publication Type
Article
Date
2016
Author
Ragnar P Kristjansson
Asmundur Oddsson
Hannes Helgason
Gardar Sveinbjornsson
Gudny A Arnadottir
Brynjar O Jensson
Aslaug Jonasdottir
Adalbjorg Jonasdottir
G. Bragi Walters
Gerald Sulem
Arna Oskarsdottir
Stefania Benonisdottir
Olafur B Davidsson
Gisli Masson
Olafur Th Magnusson
Hilma Holm
Olof Sigurdardottir
Ingileif Jonsdottir
Gudmundur I Eyjolfsson
Isleifur Olafsson
Daniel F Gudbjartsson
Unnur Thorsteinsdottir
Patrick Sulem
Kari Stefansson
Source
Nat Commun. 2016;7:10572
Date
2016
Language
English
Publication Type
Article
Keywords
Antigens, CD - genetics
Antigens, Differentiation, Myelomonocytic - genetics
Biomarkers - blood
Cell Adhesion Molecules, Neuronal - genetics
Chloride Channels - genetics
Complement Factor H - genetics
Creatine Kinase - blood
Creatine Kinase, MM Form - genetics
Female
Gene Frequency
Genetic Variation
HLA-DQ beta-Chains - genetics
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use
Iceland
Isoenzymes - genetics
L-Lactate Dehydrogenase - blood - genetics
Macrophage Colony-Stimulating Factor - genetics
Male
Nerve Growth Factors - genetics
Polymorphism, Single Nucleotide
Receptors, Cell Surface - genetics
Receptors, Immunologic - genetics
Receptors, Lymphocyte Homing - genetics
Regression Analysis
Abstract
Creatine kinase (CK) and lactate dehydrogenase (LDH) are widely used markers of tissue damage. To search for sequence variants influencing serum levels of CK and LDH, 28.3 million sequence variants identified through whole-genome sequencing of 2,636 Icelanders were imputed into 63,159 and 98,585 people with CK and LDH measurements, respectively. Here we describe 13 variants associating with serum CK and 16 with LDH levels, including four that associate with both. Among those, 15 are non-synonymous variants and 12 have a minor allele frequency below 5%. We report sequence variants in genes encoding the enzymes being measured (CKM and LDHA), as well as in genes linked to muscular (ANO5) and immune/inflammatory function (CD163/CD163L1, CSF1, CFH, HLA-DQB1, LILRB5, NINJ1 and STAB1). A number of the genes are linked to the mononuclear/phagocyte system and clearance of enzymes from the serum. This highlights the variety in the sources of normal diversity in serum levels of enzymes.
Notes
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PubMed ID
26838040 View in PubMed
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Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

https://arctichealth.org/en/permalink/ahliterature161963
Source
Science. 2007 Sep 7;317(5843):1397-400
Publication Type
Article
Date
Sep-7-2007
Author
Gudmar Thorleifsson
Kristinn P Magnusson
Patrick Sulem
G Bragi Walters
Daniel F Gudbjartsson
Hreinn Stefansson
Thorlakur Jonsson
Adalbjorg Jonasdottir
Aslaug Jonasdottir
Gerdur Stefansdottir
Gisli Masson
Gudmundur A Hardarson
Hjorvar Petursson
Arsaell Arnarsson
Mehdi Motallebipour
Ola Wallerman
Claes Wadelius
Jeffrey R Gulcher
Unnur Thorsteinsdottir
Augustine Kong
Fridbert Jonasson
Kari Stefansson
Author Affiliation
deCODE genetics Inc, 101 Reykjavik, Iceland.
Source
Science. 2007 Sep 7;317(5843):1397-400
Date
Sep-7-2007
Language
English
Publication Type
Article
Keywords
Adipose Tissue - metabolism
Amino Acid Oxidoreductases - genetics
Case-Control Studies
Chi-Square Distribution
Exfoliation Syndrome - genetics
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Glaucoma - genetics
Glaucoma, Open-Angle - genetics
Humans
Iceland
Male
Polymorphism, Single Nucleotide
Abstract
Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. 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.
Notes
Comment In: Am J Ophthalmol. 2007 Dec;144(6):974-97518036875
PubMed ID
17690259 View in PubMed
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A common variant associated with prostate cancer in European and African populations.

https://arctichealth.org/en/permalink/ahliterature76136
Source
Nat Genet. 2006 May 7;
Publication Type
Article
Date
May-7-2006
Author
Laufey T Amundadottir
Patrick Sulem
Julius Gudmundsson
Agnar Helgason
Adam Baker
Bjarni A Agnarsson
Asgeir Sigurdsson
Kristrun R Benediktsdottir
Jean-Baptiste Cazier
Jesus Sainz
Margret Jakobsdottir
Jelena Kostic
Droplaug N Magnusdottir
Shyamali Ghosh
Kari Agnarsson
Birgitta Birgisdottir
Louise Le Roux
Adalheidur Olafsdottir
Thorarinn Blondal
Margret Andresdottir
Olafia Svandis Gretarsdottir
Jon T Bergthorsson
Daniel Gudbjartsson
Arnaldur Gylfason
Gudmar Thorleifsson
Andrei Manolescu
Kristleifur Kristjansson
Gudmundur Geirsson
Helgi Isaksson
Julie Douglas
Jan-Erik Johansson
Katarina Bälter
Fredrik Wiklund
James E Montie
Xiaoying Yu
Brian K Suarez
Carole Ober
Kathleen A Cooney
Henrik Gronberg
William J Catalona
Gudmundur V Einarsson
Rosa B Barkardottir
Jeffrey R Gulcher
Augustine Kong
Unnur Thorsteinsdottir
Kari Stefansson
Author Affiliation
[1] deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. [2] These authors contributed equally to this work.
Source
Nat Genet. 2006 May 7;
Date
May-7-2006
Language
English
Publication Type
Article
Abstract
With the increasing incidence of prostate cancer, identifying common genetic variants that confer risk of the disease is important. Here we report such a variant on chromosome 8q24, a region initially identified through a study of Icelandic families. Allele -8 of the microsatellite DG8S737 was associated with prostate cancer in three case-control series of European ancestry from Iceland, Sweden and the US. The estimated odds ratio (OR) of the allele is 1.62 (P = 2.7 x 10(-11)). About 19% of affected men and 13% of the general population carry at least one copy, yielding a population attributable risk (PAR) of approximately 8%. The association was also replicated in an African American case-control group with a similar OR, in which 41% of affected individuals and 30% of the population are carriers. 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.
PubMed ID
16682969 View in PubMed
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