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Addictions and their familiality in Iceland.

https://arctichealth.org/en/permalink/ahliterature97821
Source
Ann N Y Acad Sci. 2010 Feb;1187:208-17
Publication Type
Article
Date
Feb-2010
Author
Thorarinn Tyrfingsson
Thorgeir E Thorgeirsson
Frank Geller
Valgerdur Runarsdóttir
Ingunn Hansdóttir
Gyda Bjornsdottir
Anna K Wiste
Gudrun A Jonsdottir
Hreinn Stefansson
Jeffrey R Gulcher
Hogni Oskarsson
Daniel Gudbjartsson
Kari Stefansson
Author Affiliation
SAA Treatment Center, Reykjavik, Iceland.
Source
Ann N Y Acad Sci. 2010 Feb;1187:208-17
Date
Feb-2010
Language
English
Publication Type
Article
Keywords
Alcoholism - genetics
Amphetamine-Related Disorders - genetics
Cocaine-Related Disorders - genetics
Cohort Studies
Databases, Factual
Female
Genealogy and Heraldry
Humans
Hypnotics and Sedatives
Iceland - epidemiology
Male
Marijuana Abuse - genetics
Marriage
Opioid-Related Disorders - genetics
Parent-Child Relations
Risk factors
Substance-Related Disorders - epidemiology - genetics - therapy
Abstract
Here, we provide an overview of previous family studies of addiction and present a new family study based on clinical data for more than 19,000 individuals who have been treated for addiction in Iceland over the last three decades. Coupled with the extensive Icelandic genealogy information, this population-based sample provides a unique opportunity for family studies. The relative risk (RR) was determined for up to fifth-degree relatives of probands diagnosed with alcohol, cannabis, sedative, and amphetamine dependence. We observe highly significant RR values for all substances ranging from 2.27 for alcohol to 7.3 for amphetamine, for first-degree relatives, and RRs significantly above 1 for distant relations, where the effect of shared environmental factors is minimized. The magnitude of risk in psychostimulant dependence is particularly striking. These findings emphasize the role of genetics in the etiology of addiction and highlight the importance of substance-specific effects.
PubMed ID
20201855 View in PubMed
Less detail

The Adult Reading History Questionnaire (ARHQ) in Icelandic: Psychometric Properties and Factor Structure.

https://arctichealth.org/en/permalink/ahliterature267316
Source
J Learn Disabil. 2014 Nov-Dec;47(6):532-42
Publication Type
Article
Author
Gyda Bjornsdottir
Jonas G Halldorsson
Stacy Steinberg
Ingunn Hansdottir
Kristleifur Kristjansson
Hreinn Stefansson
Kari Stefansson
Source
J Learn Disabil. 2014 Nov-Dec;47(6):532-42
Language
English
Publication Type
Article
Keywords
Adult
Dyslexia - diagnosis
Humans
Iceland
Psychometrics - instrumentation
Questionnaires - standards
Reading
Reproducibility of Results
Abstract
This article describes psychometric testing of an Icelandic adaptation of the Adult Reading History Questionnaire (ARHQ), designed to detect a history of reading difficulties indicative of dyslexia. Tested in a large and diverse sample of 2,187 adults, the Icelandic adaptation demonstrated internal consistency reliability (Cronbach's alpha = .92) and test-retest reliability (r = .93). Validity was established by comparing scores of adults who as children received ICD-10 diagnoses of specific reading disorder (F81.0; n = 419) to those of adults defined as nondyslexics (n = 679). ROC curve analysis resulted in an area under the curve of .92 (95% CI = .90, .93, p
PubMed ID
23456983 View in PubMed
Less detail

Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.

https://arctichealth.org/en/permalink/ahliterature277219
Source
Biol Psychiatry. 2016 Mar 1;79(5):383-91
Publication Type
Article
Date
Mar-1-2016
Author
Birgitte Bertelsen
Hreinn Stefánsson
Lars Riff Jensen
Linea Melchior
Nanette Mol Debes
Camilla Groth
Liselotte Skov
Thomas Werge
Iordanis Karagiannidis
Zsanett Tarnok
Csaba Barta
Peter Nagy
Luca Farkas
Karen Brøndum-Nielsen
Renata Rizzo
Mariangela Gulisano
Dan Rujescu
Lambertus A Kiemeney
Sarah Tosato
Muhammad Sulaman Nawaz
Andres Ingason
Unnur Unnsteinsdottir
Stacy Steinberg
Pétur Ludvigsson
Kari Stefansson
Andreas Walter Kuss
Peristera Paschou
Danielle Cath
Pieter J Hoekstra
Kirsten Müller-Vahl
Manfred Stuhrmann
Asli Silahtaroglu
Rolph Pfundt
Zeynep Tümer
Source
Biol Psychiatry. 2016 Mar 1;79(5):383-91
Date
Mar-1-2016
Language
English
Publication Type
Article
Keywords
Adult
Animals
Attention Deficit Disorder with Hyperactivity - genetics
Cohort Studies
Comorbidity
DNA Copy Number Variations - genetics
Denmark
Exons
Female
Genotyping Techniques
Germany
Humans
Hungary
Iceland
Italy
Male
Mice
Netherlands
Sequence Deletion - genetics
Tourette Syndrome - genetics
Abstract
Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder with a strong genetic influence where copy number variations are suggested to play a role in disease pathogenesis. In a previous small-scale copy number variation study of a GTS cohort (n = 111), recurrent exon-affecting microdeletions of four genes, including the gene encoding arylacetamide deacetylase (AADAC), were observed and merited further investigations.
We screened a Danish cohort of 243 GTS patients and 1571 control subjects for submicroscopic deletions and duplications of these four genes. The most promising candidate gene, AADAC, identified in this Danish discovery sample was further investigated in cohorts from Iceland, the Netherlands, Hungary, Germany, and Italy, and a final meta-analysis, including a total of 1181 GTS patients and 118,730 control subjects from these six European countries, was performed. Subsequently, expression of the candidate gene in the central nervous system was investigated using human and mouse brain tissues.
In the Danish cohort, we identified eight patients with overlapping deletions of AADAC. Investigation of the additional five countries showed a significant association between the AADAC deletion and GTS, and a final meta-analysis confirmed the significant association (p = 4.4 ? 10(-4); odds ratio = 1.9; 95% confidence interval = 1.33-2.71). Furthermore, RNA in situ hybridization and reverse transcription-polymerase chain reaction studies revealed that AADAC is expressed in several brain regions previously implicated in GTS pathology.
AADAC is a candidate susceptibility factor for GTS and the present findings warrant further genomic and functional studies to investigate the role of this gene in the pathogenesis of GTS.
Notes
Comment In: Biol Psychiatry. 2016 Mar 1;79(5):341-226847659
PubMed ID
26444075 View in PubMed
Less detail

CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD.

https://arctichealth.org/en/permalink/ahliterature50533
Source
PLoS Med. 2006 Jan;3(1):e5
Publication Type
Article
Date
Jan-2006
Author
Kristinn P Magnusson
Shan Duan
Haraldur Sigurdsson
Hjorvar Petursson
Zhenglin Yang
Yu Zhao
Paul S Bernstein
Jian Ge
Fridbert Jonasson
Einar Stefansson
Gudleif Helgadottir
Norman A Zabriskie
Thorlakur Jonsson
Asgeir Björnsson
Theodora Thorlacius
Palmi V Jonsson
Gudmar Thorleifsson
Augustine Kong
Hreinn Stefansson
Kang Zhang
Kari Stefansson
Jeffrey R Gulcher
Author Affiliation
DeCODE Genetics, Reykjavik, Iceland. kristinn.p.magnusson@decode.is
Source
PLoS Med. 2006 Jan;3(1):e5
Date
Jan-2006
Language
English
Publication Type
Article
Abstract
BACKGROUND: Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment in the developed world. The two forms of advanced AMD, geographic atrophy and neovascular AMD, represent different pathological processes in the macula that lead to loss of central vision. Soft drusen, characterized by deposits in the macula without visual loss, are considered to be a precursor of advanced AMD. Recently, it has been proposed that a common missense variant, Y402H, in the Complement Factor H (CFH) gene increases the risk for advanced AMD. However, its impact on soft drusen, GA, or neovascular AMD--or the relationship between them--is unclear. METHODS AND FINDINGS: We genotyped 581 Icelandic patients with advanced AMD (278 neovascular AMD, 203 GA, and 100 with mixed neovascular AMD/GA), and 435 with early AMD (of whom 220 had soft drusen). A second cohort of 431 US patients from Utah, 322 with advanced AMD (244 neovascular AMD and 78 GA) and 109 early-AMD cases with soft drusen, were analyzed. We confirmed that the CFH Y402H variant shows significant association to advanced AMD, with odds ratio of 2.39 in Icelandic patients (p = 5.9 x 10(-12)) and odds ratio of 2.14 in US patients from Utah (p = 2.0 x 10(-9)) with advanced AMD. Furthermore, we show that the Y402H variant confers similar risk of soft drusen and both forms of advanced AMD (GA or neovascular AMD). CONCLUSION: Soft drusen occur prior to progression to advanced AMD and represent a histological feature shared by neovascular AMD and GA. Our results suggest that CFH is a major risk factor of soft drusen, and additional genetic factors and/or environmental factors may be required for progression to advanced AMD.
PubMed ID
16300415 View in PubMed
Less detail

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

https://arctichealth.org/en/permalink/ahliterature152673
Source
Am J Med Genet A. 2009 Mar;149A(3):380-6
Publication Type
Article
Date
Mar-2009
Author
Miriam Entesarian
Birgit Carlsson
Mahmoud Reza Mansouri
Eva-Lena Stattin
Eva Holmberg
Irina Golovleva
Hreinn Stefansson
Joakim Klar
Niklas Dahl
Author Affiliation
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Source
Am J Med Genet A. 2009 Mar;149A(3):380-6
Date
Mar-2009
Language
English
Publication Type
Article
Keywords
Amniocentesis
Chi-Square Distribution
Chromosome Breakage
Chromosome Inversion
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 10
Cloning, Molecular
Cytogenetic Analysis
Gene Frequency
Genetic markers
Genetic Variation
Geography
Haplotypes
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Microsatellite Repeats
Polymerase Chain Reaction
Population Groups
Sequence Analysis, DNA
Sweden
Abstract
We identified a paracentric inversion of chromosome 10 [inv(10)(q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis. A retrospective analysis of 8,896 karyotypes from amniocenteses in Sweden revealed a carrier frequency of 0.079% (7/8,896) for the inversion. Cloning and detailed analysis of the inversion breakpoint regions show enrichment for interspersed repeat elements and AT-stretches. The centromeric breakpoint coincides with that of a predicted inversion from HapMap data, which suggests that this region is involved in several chromosome 10 variants. No known gene or predicted transcript are disrupted by the inversion which spans approximately 12 Mb. Carriers from four non-related Swedish families have identical inversion breakpoints and haplotype analysis confirmed that the rearrangement is identical by descent. Diagnosis was retrieved in 6 out of the 15 carriers referred for cytogenetic analysis. No consistent phenotype was found to be associated with the inversion. Our study demonstrates that the inv(10)(q11.22q21.1) is a rare and inherited chromosome variant with a broad geographical distribution in Sweden.
PubMed ID
19213037 View in PubMed
Less detail

CNVs conferring risk of autism or schizophrenia affect cognition in controls.

https://arctichealth.org/en/permalink/ahliterature105563
Source
Nature. 2014 Jan 16;505(7483):361-6
Publication Type
Article
Date
Jan-16-2014
Author
Hreinn Stefansson
Andreas Meyer-Lindenberg
Stacy Steinberg
Brynja Magnusdottir
Katrin Morgen
Sunna Arnarsdottir
Gyda Bjornsdottir
G Bragi Walters
Gudrun A Jonsdottir
Orla M Doyle
Heike Tost
Oliver Grimm
Solveig Kristjansdottir
Heimir Snorrason
Solveig R Davidsdottir
Larus J Gudmundsson
Gudbjorn F Jonsson
Berglind Stefansdottir
Isafold Helgadottir
Magnus Haraldsson
Birna Jonsdottir
Johan H Thygesen
Adam J Schwarz
Michael Didriksen
Tine B Stensbøl
Michael Brammer
Shitij Kapur
Jonas G Halldorsson
Stefan Hreidarsson
Evald Saemundsen
Engilbert Sigurdsson
Kari Stefansson
Author Affiliation
1] deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavík, Iceland [2].
Source
Nature. 2014 Jan 16;505(7483):361-6
Date
Jan-16-2014
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Autistic Disorder - genetics
Brain - abnormalities - anatomy & histology - metabolism
Case-Control Studies
Chromosome Deletion
Chromosomes, Human - genetics
Chromosomes, Human, Pair 15 - genetics
Cognition - physiology
DNA Copy Number Variations - genetics
Dyslexia - genetics
Female
Fertility - genetics
Genetic Predisposition to Disease
Heterozygote
Humans
Iceland
Learning Disorders - genetics
Magnetic Resonance Imaging
Male
Middle Aged
Neuropsychological Tests
Phenotype
Schizophrenia - genetics
Young Adult
Abstract
In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis of the disease. These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike. They are not fully penetrant and offer an opportunity to study their effects separate from that of manifest disease. Here we show in an Icelandic sample that a few of the CNVs clearly alter fecundity (measured as the number of children by age 45). Furthermore, we use various tests of cognitive function to demonstrate that control subjects carrying the CNVs perform at a level that is between that of schizophrenia patients and population controls. The CNVs do not all affect the same cognitive domains, hence the cognitive deficits that drive or accompany the pathogenesis vary from one CNV to another. Controls carrying the chromosome 15q11.2 deletion between breakpoints 1 and 2 (15q11.2(BP1-BP2) deletion) have a history of dyslexia and dyscalculia, even after adjusting for IQ in the analysis, and the CNV only confers modest effects on other cognitive traits. The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia.
PubMed ID
24352232 View in PubMed
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A common inversion under selection in Europeans.

https://arctichealth.org/en/permalink/ahliterature29953
Source
Nat Genet. 2005 Feb;37(2):129-37
Publication Type
Article
Date
Feb-2005
Author
Hreinn Stefansson
Agnar Helgason
Gudmar Thorleifsson
Valgerdur Steinthorsdottir
Gisli Masson
John Barnard
Adam Baker
Aslaug Jonasdottir
Andres Ingason
Vala G Gudnadottir
Natasa Desnica
Andrew Hicks
Arnaldur Gylfason
Daniel F Gudbjartsson
Gudrun M Jonsdottir
Jesus Sainz
Kari Agnarsson
Birgitta Birgisdottir
Shyamali Ghosh
Adalheidur Olafsdottir
Jean-Baptiste Cazier
Kristleifur Kristjansson
Michael L Frigge
Thorgeir E Thorgeirsson
Jeffrey R Gulcher
Augustine Kong
Kari Stefansson
Author Affiliation
deCODE Genetics, Sturlugata 8, 101 Reykjavík, Iceland.
Source
Nat Genet. 2005 Feb;37(2):129-37
Date
Feb-2005
Language
English
Publication Type
Article
Keywords
Chromosomes, Human, Pair 17
European Continental Ancestry Group - genetics
Female
Gene Frequency
Haplotypes
Humans
Iceland
Inversion, Chromosome
Molecular Sequence Data
Phylogeny
Physical Chromosome Mapping
Polymorphism, Genetic
Recombination, Genetic
Selection (Genetics)
Abstract
A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. Chromosomes with the inverted segment in different orientations represent two distinct lineages, H1 and H2, that have diverged for as much as 3 million years and show no evidence of having recombined. The H2 lineage is rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans, in whom the haplotype structure is indicative of a history of positive selection. 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.
Notes
Comment In: Nat Genet. 2005 Feb;37(2):10715678132
Comment In: Nat Genet. 2005 Feb;37(2):115-615678139
PubMed ID
15654335 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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Deletion of TOP3ß, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.

https://arctichealth.org/en/permalink/ahliterature108253
Source
Nat Neurosci. 2013 Sep;16(9):1228-37
Publication Type
Article
Date
Sep-2013
Author
Georg Stoll
Olli P H Pietiläinen
Bastian Linder
Jaana Suvisaari
Cornelia Brosi
William Hennah
Virpi Leppä
Minna Torniainen
Samuli Ripatti
Sirpa Ala-Mello
Oliver Plöttner
Karola Rehnström
Annamari Tuulio-Henriksson
Teppo Varilo
Jonna Tallila
Kati Kristiansson
Matti Isohanni
Jaakko Kaprio
Johan G Eriksson
Olli T Raitakari
Terho Lehtimäki
Marjo-Riitta Jarvelin
Veikko Salomaa
Matthew Hurles
Hreinn Stefansson
Leena Peltonen
Patrick F Sullivan
Tiina Paunio
Jouko Lönnqvist
Mark J Daly
Utz Fischer
Nelson B Freimer
Aarno Palotie
Author Affiliation
Department of Biochemistry, University of Würzburg, Würzburg, Germany.
Source
Nat Neurosci. 2013 Sep;16(9):1228-37
Date
Sep-2013
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Adolescent
Adult
Aged
Chromosome Deletion
Chromosomes, Human, Pair 22 - genetics
Cognition Disorders - epidemiology - genetics
Cohort Studies
DNA Topoisomerases, Type I - genetics
DiGeorge Syndrome - genetics
Family Health
Female
Finland - epidemiology
Fragile X Mental Retardation Protein - genetics - metabolism
Gene Expression Profiling
Genetic Association Studies
Genotype
HEK293 Cells
Health Surveys
Humans
Male
Middle Aged
Models, Molecular
Proteins - genetics - metabolism
Ribonucleoproteins - genetics - metabolism
Schizophrenia - epidemiology - genetics
Sequence Deletion - genetics
Young Adult
Abstract
Implicating particular genes in the generation of complex brain and behavior phenotypes requires multiple lines of evidence. The rarity of most high-impact genetic variants typically precludes the possibility of accruing statistical evidence that they are associated with a given trait. We found that the enrichment of a rare chromosome 22q11.22 deletion in a recently expanded Northern Finnish sub-isolate enabled the detection of association between TOP3B and both schizophrenia and cognitive impairment. Biochemical analysis of TOP3ß revealed that this topoisomerase was a component of cytosolic messenger ribonucleoproteins (mRNPs) and was catalytically active on RNA. The recruitment of TOP3ß to mRNPs was independent of RNA cis-elements and was coupled to the co-recruitment of FMRP, the disease gene product in fragile X mental retardation syndrome. Our results indicate a previously unknown role for TOP3ß in mRNA metabolism and suggest that it is involved in neurodevelopmental disorders.
Notes
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PubMed ID
23912948 View in PubMed
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Evaluating differences in linkage disequilibrium between populations.

https://arctichealth.org/en/permalink/ahliterature143033
Source
Ann Hum Genet. 2010 May;74(3):233-47
Publication Type
Article
Date
May-2010
Author
Birgir Hrafnkelsson
Agnar Helgason
Gudbjorn F Jonsson
Daniel F Gudbjartsson
Thorlakur Jonsson
Sverrir Thorvaldsson
Hreinn Stefansson
Valgerdur Steinthorsdottir
Nanna Vidarsdottir
Derek Middleton
Henning S Petersen
Conrado Martinez
Jon Snaedal
Palmi V Jonsson
Sigurbjorn Bjornsson
Jeffrey R Gulcher
Kari Stefansson
Author Affiliation
deCODE genetics, 101 Reykjavik, Iceland. birgirhr@hi.is
Source
Ann Hum Genet. 2010 May;74(3):233-47
Date
May-2010
Language
English
Publication Type
Article
Keywords
Alzheimer Disease - genetics
Chromosomes, Human, X
European Continental Ancestry Group - genetics
Genetic Predisposition to Disease
Genetics, Population
Humans
Iceland
Linkage Disequilibrium
Microsatellite Repeats
Polymorphism, Single Nucleotide
Abstract
We propose two methods to evaluate the statistical significance of differences in linkage disequilibrium (LD) between populations, where LD is measured by the standardised parameter D'. The first method is based on bootstrapping individuals within populations in order to test LD differences for each pair of loci. Using this approach we propose a solution to the problem of testing multiple locus-pairs by means of a single test for the number of pairs that exhibit significant LD differences among populations. The second method provides the Bayesian posterior probability that one population has greater LD than the other for each locus pair. Both methods can handle genotypes with unknown phase, and are demonstrated using two data sets. For the purpose of demonstration, we apply the methods to two different sets of data from humans. First, we explore the issue of LD differences between reproductively isolated populations using a new data set of twelve Xq25 microsatellites, typed in four European populations. Second, we examine evidence for LD differences between Alzheimer cases and controls from the Icelandic population using 19 single nucleotide polymorphisms (SNPs) from a 97 kb region flanking the Apolipoprotein E (APOE) gene on chromosome 19.
PubMed ID
20529015 View in PubMed
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