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15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

https://arctichealth.org/en/permalink/ahliterature287813
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Publication Type
Article
Date
Apr-25-2017
Author
M O Ulfarsson
G B Walters
O. Gustafsson
S. Steinberg
A. Silva
O M Doyle
M. Brammer
D F Gudbjartsson
S. Arnarsdottir
G A Jonsdottir
R S Gisladottir
G. Bjornsdottir
H. Helgason
L M Ellingsen
J G Halldorsson
E. Saemundsen
B. Stefansdottir
L. Jonsson
V K Eiriksdottir
G R Eiriksdottir
G H Johannesdottir
U. Unnsteinsdottir
B. Jonsdottir
B B Magnusdottir
P. Sulem
U. Thorsteinsdottir
E. Sigurdsson
D. Brandeis
A. Meyer-Lindenberg
H. Stefansson
K. Stefansson
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Date
Apr-25-2017
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 15 - genetics
Cognition - physiology
DNA Copy Number Variations - genetics
Developmental Disabilities - genetics
Dyscalculia - genetics
Dyslexia - genetics
Female
Functional Neuroimaging - methods - standards
Heterozygote
Humans
Iceland - epidemiology
Intellectual Disability - genetics
Magnetic Resonance Imaging - methods
Male
Middle Aged
Neuropsychological Tests - standards
Phenotype
Temporal Lobe - anatomy & histology - diagnostic imaging
Young Adult
Abstract
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
Notes
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PubMed ID
28440815 View in PubMed
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A common biological basis of obesity and nicotine addiction.

https://arctichealth.org/en/permalink/ahliterature106935
Source
Transl Psychiatry. 2013;3:e308
Publication Type
Article
Date
2013
Author
T E Thorgeirsson
D F Gudbjartsson
P. Sulem
S. Besenbacher
U. Styrkarsdottir
G. Thorleifsson
G B Walters
H. Furberg
P F Sullivan
J. Marchini
M I McCarthy
V. Steinthorsdottir
U. Thorsteinsdottir
K. Stefansson
Author Affiliation
Decode genetics/AMGEN, Sturlugata 8, Reykjavik, Iceland.
Source
Transl Psychiatry. 2013;3:e308
Date
2013
Language
English
Publication Type
Article
Keywords
Age of Onset
Behavior, Addictive - genetics
Body mass index
Humans
Iceland - epidemiology
Obesity - genetics
Polymorphism, Single Nucleotide
Smoking - epidemiology - genetics
Tobacco Use Disorder - genetics
Abstract
Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked per day (CPD) in an Icelandic sample (N=34,216 smokers). Combined according to their effect on BMI, the SNPs correlate with both SI (r=0.019, P=0.00054) and CPD (r=0.032, P=8.0 ? 10(-7)). These findings replicate in a second large data set (N=127,274, thereof 76,242 smokers) for both SI (P=1.2 ? 10(-5)) and CPD (P=9.3 ? 10(-5)). Notably, the variant most strongly associated with BMI (rs1558902-A in FTO) did not associate with smoking behavior. The association with smoking behavior is not due to the effect of the SNPs on BMI. Our results strongly point to a common biological basis of the regulation of our appetite for tobacco and food, and thus the vulnerability to nicotine addiction and obesity.
Notes
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PubMed ID
24084939 View in PubMed
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The inheritance of rheumatoid arthritis in Iceland.

https://arctichealth.org/en/permalink/ahliterature14004
Source
Arthritis Rheum. 2001 Oct;44(10):2247-54
Publication Type
Article
Date
Oct-2001
Author
S F Grant
G. Thorleifsson
M L Frigge
J. Thorsteinsson
B. Gunnlaugsdóttir
A J Geirsson
M. Gudmundsson
A. Vikingsson
K. Erlendsson
J. Valsson
H. Jónsson
D F Gudbjartsson
K. Stefánsson
J R Gulcher
K. Steinsson
Author Affiliation
National University Hospital of Iceland, Reykjavik.
Source
Arthritis Rheum. 2001 Oct;44(10):2247-54
Date
Oct-2001
Language
English
Publication Type
Article
Keywords
Algorithms
Arthritis, Rheumatoid - epidemiology - etiology - genetics
Databases, Factual
Female
Humans
Iceland - epidemiology
Male
Pedigree
Research Support, Non-U.S. Gov't
Abstract
OBJECTIVE: Rheumatoid arthritis (RA) is the most common form of inflammatory arthritis. Although there is a large body of evidence suggesting that RA is immune mediated, the etiology remains unresolved. Twin studies have shown disease concordance rates of approximately 15% in monozygotic twins and 4% in dizygotic twins, while the estimated risk ratio for siblings of RA patients ranges from 5 to 8. Our goal was to use genealogic data from Iceland to further investigate the genetic component of RA. METHODS: Data were obtained from a population-based, computerized genealogy database that was developed to examine multigenerational relationships among individuals in the relatively homogeneous population of Iceland. Using an algorithm, the minimum founder test, we calculated the least number of founders required to account for a list of RA patients, and compared it with 1,000 sets of same-sized matched control groups. In addition, we estimated the kinship coefficient and risk ratios for relatives of the RA patients. RESULTS: Several familial clustering tests demonstrated that the RA patients were more related to each other than were the average control set of Icelanders. A significantly fewer number of founders was necessary to account for our patient list than for the random sets of matched controls (P
PubMed ID
11665965 View in PubMed
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Rare and Common Variants Conferring Risk of Tooth Agenesis.

https://arctichealth.org/en/permalink/ahliterature301182
Source
J Dent Res. 2018 05; 97(5):515-522
Publication Type
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Date
05-2018
Author
L Jonsson
T E Magnusson
A Thordarson
T Jonsson
F Geller
B Feenstra
M Melbye
E A Nohr
S Vucic
B Dhamo
F Rivadeneira
E M Ongkosuwito
E B Wolvius
E J Leslie
M L Marazita
B J Howe
L M Moreno Uribe
I Alonso
M Santos
T Pinho
R Jonsson
G Audolfsson
L Gudmundsson
M S Nawaz
S Olafsson
O Gustafsson
A Ingason
U Unnsteinsdottir
G Bjornsdottir
G B Walters
M Zervas
A Oddsson
D F Gudbjartsson
S Steinberg
H Stefansson
K Stefansson
Author Affiliation
1 deCODE genetics/Amgen, Reykjavik, Iceland.
Source
J Dent Res. 2018 05; 97(5):515-522
Date
05-2018
Language
English
Publication Type
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Keywords
Anodontia - epidemiology - etiology - genetics
Female
Genome-Wide Association Study
Humans
Iceland - epidemiology
Male
Polymorphism, Single Nucleotide - genetics
Risk factors
Abstract
We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.
PubMed ID
29364747 View in PubMed
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A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.

https://arctichealth.org/en/permalink/ahliterature279141
Source
Mol Psychiatry. 2016 May;21(5):594-600
Publication Type
Article
Date
May-2016
Author
T E Thorgeirsson
S. Steinberg
G W Reginsson
G. Bjornsdottir
T. Rafnar
I. Jonsdottir
A. Helgadottir
S. Gretarsdottir
H. Helgadottir
S. Jonsson
S E Matthiasson
T. Gislason
T. Tyrfingsson
T. Gudbjartsson
H J Isaksson
H. Hardardottir
A. Sigvaldason
L A Kiemeney
A. Haugen
S. Zienolddiny
H J Wolf
W A Franklin
A. Panadero
J I Mayordomo
I P Hall
E. Rönmark
B. Lundbäck
A. Dirksen
H. Ashraf
J H Pedersen
G. Masson
P. Sulem
U. Thorsteinsdottir
D F Gudbjartsson
K. Stefansson
Source
Mol Psychiatry. 2016 May;21(5):594-600
Date
May-2016
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Aortic Aneurysm, Abdominal - etiology - genetics
European Continental Ancestry Group - genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Iceland
Lung Neoplasms - etiology - genetics
Male
Middle Aged
Mutation, Missense
Peripheral Arterial Disease - etiology - genetics
Pulmonary Disease, Chronic Obstructive - etiology - genetics
Receptors, Nicotinic - genetics
Smoking - genetics
Tobacco Use Disorder - complications - genetics
Young Adult
Abstract
Using Icelandic whole-genome sequence data and an imputation approach we searched for rare sequence variants in CHRNA4 and tested them for association with nicotine dependence. We show that carriers of a rare missense variant (allele frequency=0.24%) within CHRNA4, encoding an R336C substitution, have greater risk of nicotine addiction than non-carriers as assessed by the Fagerstrom Test for Nicotine Dependence (P=1.2 × 10(-4)). The variant also confers risk of several serious smoking-related diseases previously shown to be associated with the D398N substitution in CHRNA5. We observed odds ratios (ORs) of 1.7-2.3 for lung cancer (LC; P=4.0 × 10(-4)), chronic obstructive pulmonary disease (COPD; P=9.3 × 10(-4)), peripheral artery disease (PAD; P=0.090) and abdominal aortic aneurysms (AAAs; P=0.12), and the variant associates strongly with the early-onset forms of LC (OR=4.49, P=2.2 × 10(-4)), COPD (OR=3.22, P=2.9 × 10(-4)), PAD (OR=3.47, P=9.2 × 10(-3)) and AAA (OR=6.44, P=6.3 × 10(-3)). Joint analysis of the four smoking-related diseases reveals significant association (P=6.8 × 10(-5)), particularly for early-onset cases (P=2.1 × 10(-7)). Our results are in agreement with functional studies showing that the human a4ß2 isoform of the channel containing R336C has less sensitivity for its agonists than the wild-type form following nicotine incubation.
PubMed ID
26952864 View in PubMed
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