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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
Less detail

The 20th century Danish facial cleft population--epidemiological and genetic-epidemiological studies.

https://arctichealth.org/en/permalink/ahliterature33384
Source
Cleft Palate Craniofac J. 1999 Mar;36(2):96-104
Publication Type
Article
Date
Mar-1999
Author
K. Christensen
Author Affiliation
Institute of Public Health, Epidemiology, Odense University, Denmark. k-christensen@win-chs.ou.dk
Source
Cleft Palate Craniofac J. 1999 Mar;36(2):96-104
Date
Mar-1999
Language
English
Publication Type
Article
Keywords
Child, Preschool
Cleft Lip - epidemiology - genetics
Cleft Palate - epidemiology - genetics
Cohort Studies
Denmark - epidemiology
Diseases in Twins - epidemiology - genetics
Epidemiology, Molecular
Female
Humans
Incidence
Infant
Infant, Newborn
Male
Pregnancy
Prevalence
Prospective Studies
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Risk factors
Seasons
Sex Factors
Twin Studies
Variation (Genetics)
Abstract
Since Dr. Fogh-Andersen's legendary 1942 thesis, the Danish facial cleft population has been one of the most extensively studied in terms of epidemiology and genetic-epidemiology. The etiology of cleft lip and/or palate (CLP) is still largely an enigma, and different results concerning environmental and genetic risk factors are obtained in different countries and regions. This may be due to etiological heterogeneity between settings. Therefore, an in-depth studied area with an ethnically homogeneous population, such as Denmark, has provided one of the best opportunities for progress in CLP etiological research. The present review summarizes epidemiological and genetic-epidemiological studies conducted in the 20th century Danish facial cleft population. Furthermore, analyses of sex differences, time trends and seasonality for more than 7000 CLP cases born in Denmark in the period 1936 to 1987 are presented. The review also points toward the excellent opportunities for continued etiological CLP research in Denmark in the 21st century using already established resources and an on-going prospective cohort study of 100,000 pregnant women.
PubMed ID
10213053 View in PubMed
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24-h ambulatory blood pressure is linked to chromosome 18q21-22 and genetic variation of NEDD4L associates with cross-sectional and longitudinal blood pressure in Swedes.

https://arctichealth.org/en/permalink/ahliterature81774
Source
Kidney Int. 2006 Aug;70(3):562-9
Publication Type
Article
Date
Aug-2006
Author
Fava C.
von Wowern F.
Berglund G.
Carlson J.
Hedblad B.
Rosberg L.
Burri P.
Almgren P.
Melander O.
Author Affiliation
Department of Clinical Sciences, University Hospital MAS, Malmö, Sweden.
Source
Kidney Int. 2006 Aug;70(3):562-9
Date
Aug-2006
Language
English
Publication Type
Article
Keywords
Adult
Alternative Splicing
Antihypertensive Agents - therapeutic use
Blood Pressure - genetics
Blood Pressure Monitoring, Ambulatory
Chromosomes, Human, Pair 18
Circadian Rhythm
Cross-Sectional Studies
Female
Genetic Predisposition to Disease - epidemiology
Genotype
Humans
Hypertension - drug therapy - epidemiology - genetics
Insulin - blood
Linkage (Genetics)
Longitudinal Studies
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Risk factors
Sweden - epidemiology
Ubiquitin-Protein Ligases - genetics
Variation (Genetics)
Abstract
Numerous linkage studies have indicated chromosome 18q21-22 as a locus of importance for blood pressure regulation. This locus harbors the neural precursor cell expressed developmentally downregulated 4-like (NEDD4L) gene, which is instrumental for the regulation of the amiloride-sensitive epithelial sodium channel (ENaC). In a linkage study of 16 markers (including two single nucleotide polymorphism markers located within the NEDD4L gene) on chromosome 18 between 70-104 cM and ambulatory blood pressure (ABP), in 118 families, the strongest evidence of linkage was found for 24 h and day-time systolic ABP at the NEDD4L locus (82.25 cM) (P=0.0014). In a large population sample (n=4001), we subsequently showed that a NEDD4L gene variant (rs4149601), which by alternative splicing leads to varying expression of a functionally crucial C2 domain, was associated with diastolic blood pressure (DBP) (P=0.03) and DBP progression over time (P=0.04). A genotype combination of the rs4149601 and an intronic NEDD4L marker (rs2288774) was associated with systolic blood pressure (SBP) (P=0.01), DBP (P=0.04), and progression of both SBP (P=0.03) and DBP (P=0.05) over time. A quantitative transmission disequilibrium test in the family material of the rs4149601 supported this NEDD4L variant as being at least partially causative of the linkage result. In conclusion, our findings suggest that the chromosome 18 linkage peak at 82.25 cM is explained by genetic NEDD4L variation affecting cross-sectional and longitudinal blood pressure, possibly as a consequence of altered NEDD4L interaction with ENaC.
PubMed ID
16788695 View in PubMed
Less detail

Absence of association between genetic variation in the LIPC gene promoter and plasma lipoproteins in three Canadian populations.

https://arctichealth.org/en/permalink/ahliterature5558
Source
Atherosclerosis. 1999 Sep;146(1):153-60
Publication Type
Article
Date
Sep-1999
Author
R A Hegele
S B Harris
J H Brunt
T K Young
A J Hanley
B. Zinman
P W Connelly
Author Affiliation
Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Department of Medicine, London, Ont., Canada. robert.hegele@rri.on.ca
Source
Atherosclerosis. 1999 Sep;146(1):153-60
Date
Sep-1999
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Analysis of Variance
Arteriosclerosis - genetics
Canada
Female
Gene Frequency
Humans
Indians, North American - genetics
Lipase - blood - genetics
Lipoproteins, HDL Cholesterol - blood
Liver - enzymology
Male
Middle Aged
Phenotype
Population Surveillance
Promoter Regions (Genetics)
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Sensitivity and specificity
Trans-Activation (Genetics)
Variation (Genetics)
Abstract
The promoter sequence variant -480T in the hepatic lipase gene (LIPC) has been shown to be significantly associated with low post-heparin hepatic lipase activity. Some studies have also found that the -480T variant is associated with elevation in plasma HDL cholesterol. We tested for associations of LIPC -480T with plasma lipoprotein traits in samples taken from three distinct Canadian populations: 657 Alberta Hutterites, 328 Ontario Oji-Cree and 210 Keewatin Inuit. Plasma HL activity was not available for analyses. The LIPC -480T allele frequencies in these three groups, respectively, were 0.219, 0.527 and 0.383, and the prevalence of LIPC -480T/T homozygotes was, respectively, 0.042, 0.274 and 0.167. No significant association was found between LIPC -480T and plasma HDL cholesterol or apolipoprotein AI concentration, after adjusting for covariates including gender and body mass index. There was no consistent relationship between the population mean plasma HDL cholesterol concentration and the population LIPC -480T frequency. Our findings are consistent with the idea that the common promoter variation in LIPC, which has been reported to be associated with variation in post heparin HL activity and HDL triglyceride concentration, is not always associated with variation in plasma HDL cholesterol concentration, possibly due to yet unspecified environmental or genetic factors.
PubMed ID
10487498 View in PubMed
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[Age dynamics of genetic variation in an isolated population of chalk pine Pinus sylvestris var. cretacea Kalenicz. ex Kom. from Donbass]

https://arctichealth.org/en/permalink/ahliterature81675
Source
Genetika. 2006 May;42(5):659-66
Publication Type
Article
Date
May-2006
Author
Korshikov I I
Mudrik E A
Source
Genetika. 2006 May;42(5):659-66
Date
May-2006
Language
Russian
Publication Type
Article
Keywords
Alleles
Inbreeding
Pinus sylvestris - genetics
Ukraine
Variation (Genetics)
Abstract
Based on analysis of variation at ten allozyme loci in three age groups (25-35, 40-80, and more than 100 years of age) of plants and in seed embryos, demographic dynamics of the gene pools was studied in a small (60.5 ha) isolated relict population of chalk pine Pinus sylvestris var. cretacea Kalenicz. ex Kom. from the steppe zone of Ukraine. The observed grenotype proportions in these tree groups were shown to fit Hardy-Weinberg expectations, while in the embryos of their seeds, an excess of homozygotes was observed at five to nine loci. The mean observed heterozygosity in the sample of old (> 100 years of age) trees (H(O) = 0.225) was substantially lower than in trees of the two other age groups (H(O) = 0.307; 0.311), but significantly higher than in the corresponding embryo samples (H(O) = 0.183-0.207). No allele and genotype heterogeneity of the maternal trees and embryos of their seeds was found. However, heterogeneity was high when the progeny of trees of different ages, particularly in pairs with old trees, were compared.
PubMed ID
16808246 View in PubMed
Less detail

Age, Gene/Environment Susceptibility-Reykjavik Study: multidisciplinary applied phenomics.

https://arctichealth.org/en/permalink/ahliterature78517
Source
Am J Epidemiol. 2007 May 1;165(9):1076-87
Publication Type
Article
Date
May-1-2007
Author
Harris Tamara B
Launer Lenore J
Eiriksdottir Gudny
Kjartansson Olafur
Jonsson Palmi V
Sigurdsson Gunnar
Thorgeirsson Gudmundur
Aspelund Thor
Garcia Melissa E
Cotch Mary Frances
Hoffman Howard J
Gudnason Vilmundur
Author Affiliation
Laboratory of Epidemiology, Demography, and Biometry, Intramural Research Program, National Institute on Aging, Bethesda, MD 20892-9205, USA. Harris99@mail.nih.gov
Source
Am J Epidemiol. 2007 May 1;165(9):1076-87
Date
May-1-2007
Language
English
Publication Type
Article
Keywords
Age Factors
Aged
Aged, 80 and over
Aging - genetics - pathology
Body Composition
Cardiovascular Diseases - epidemiology - genetics
Chronic Disease
Dementia - epidemiology - genetics
Disease Susceptibility
Environment
Female
Genotype
Geriatrics
Health Status Indicators
Humans
Iceland - epidemiology
Male
Osteoporosis - epidemiology - genetics
Phenotype
Questionnaires
Risk Assessment - methods
Risk factors
Variation (Genetics)
Abstract
In anticipation of the sequencing of the human genome and description of the human proteome, the Age, Gene/Environment Susceptibility-Reykjavik Study (AGES-Reykjavik) was initiated in 2002. AGES-Reykjavik was designed to examine risk factors, including genetic susceptibility and gene/environment interaction, in relation to disease and disability in old age. The study is multidisciplinary, providing detailed phenotypes related to the cardiovascular, neurocognitive (including sensory), and musculoskeletal systems, and to body composition and metabolic regulation. Relevant quantitative traits, subclinical indicators of disease, and medical diagnoses are identified by using biomarkers, imaging, and other physiologic indicators. The AGES-Reykjavik sample is drawn from an established population-based cohort, the Reykjavik Study. This cohort of men and women born between 1907 and 1935 has been followed in Iceland since 1967 by the Icelandic Heart Association. The AGES-Reykjavik cohort, with cardiovascular risk factor assessments earlier in life and detailed late-life phenotypes of quantitative traits, will create a comprehensive study of aging nested in a relatively genetically homogeneous older population. This approach should facilitate identification of genetic factors that contribute to healthy aging as well as the chronic conditions common in old age.
PubMed ID
17351290 View in PubMed
Less detail

[A genetic analysis of variants of the human immunodeficiency virus type 1 (HIV-1) circulating among drug abusers in Moscow and Moscow Province]

https://arctichealth.org/en/permalink/ahliterature7503
Source
Zh Mikrobiol Epidemiol Immunobiol. 2000 Jul-Aug;(4):19-21
Publication Type
Article
Author
A F Bobkov
E V Kazennova
M R Bobkova
L M Selimova
E V Buravtsova
N N Ladnaia
T A Khanina
A V Kravchenko
V V Pokrovskii
Author Affiliation
Ivanovsky Research Institute of Virology, Russian Research and Methodological Center for Prevention and Control of AIDS, Moscow, Russia.
Source
Zh Mikrobiol Epidemiol Immunobiol. 2000 Jul-Aug;(4):19-21
Language
Russian
Publication Type
Article
Keywords
Base Sequence
English Abstract
Female
Genotype
HIV Infections - virology
HIV-1 - classification - genetics - isolation & purification
Humans
Male
Moscow
Phylogeny
Research Support, Non-U.S. Gov't
Rural Population
Russia
Serotyping
Substance-Related Disorders - virology
Urban Population
Variation (Genetics) - genetics
Abstract
The genetic analysis of the variants of human immunodeficiency virus of type 1 (HIV-1), circulating among drug addicts in Moscow and Moscow Province, has been carried out. The serological analysis of 122 blood specimens taken from HIV-infected drug addicts, residing in Moscow and 22 settlements of the Moscow region, has shown that in this region HIV-1 variant of subtype A spreads among drug addicts. These data have been confirmed by the results of the analysis of 44 specimens, made with the use of the method of the heteroduplex mobility assay for gene env. As revealed in this study, HIV-1 variants spreading at present among drug addicts in Moscow and the Moscow region are genetically related to viruses of subtype A, detected earlier in this group of risk in other regions of Russia, the Ukraine, Belarus and other countries of Eastern Europe.
PubMed ID
10994095 View in PubMed
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Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.

https://arctichealth.org/en/permalink/ahliterature50701
Source
Ophthalmic Genet. 2003 Jun;24(2):103-10
Publication Type
Article
Date
Jun-2003
Author
Mattias Jansson
Towa Marknell
Lidija Tomic
Lill-Inger Larsson
Claes Wadelius
Author Affiliation
Department of Genetics and Pathology, Unit of Clinical Genetics, Rudbeck Laboratory, Uppsala University, SE-751 85 Uppsala, Sweden.
Source
Ophthalmic Genet. 2003 Jun;24(2):103-10
Date
Jun-2003
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Case-Control Studies
Chromatography, High Pressure Liquid
Chromosomes, Human, Pair 1 - genetics
Comparative Study
Cytoskeletal Proteins
DNA Mutational Analysis
Exfoliation Syndrome - genetics
Eye Proteins - genetics
Female
Glaucoma, Open-Angle - genetics - pathology
Glycoproteins - genetics
Humans
Male
Mutation - genetics
Polymerase Chain Reaction
Reference Values
Research Support, Non-U.S. Gov't
Sweden
Trabecular Meshwork
Variation (Genetics) - genetics
Abstract
One of the leading causes of blindness in the world is glaucoma. The most common form is primary open-angle glaucoma (POAG). The only gene identified so far as being associated with POAG is the MYOC gene; 2-4% of the patients have been reported to carry mutations in this gene. Exfoliative glaucoma is a secondary glaucoma, in which one of the symptoms is exfoliations on the lens capsule and anterior segment of the eye. No gene has been identified as being associated with this variant. The aim of the present study was to analyze Swedish patient material for allelic variants and mutations in the coding region of the MYOC gene. Two hundred patients with POAG and 200 with exfoliative glaucoma were analyzed using enzymatic cleavage assay and denaturing high-performance liquid chromatography (dHPLC). An age-matched control group (n = 200), in whom glaucoma had been excluded, was also analyzed using dHPLC. Eight allele variants were identified, two of which were determined to be disease-causing mutations. These two disease-causing mutations were only found in POAG patients, indicating a prevalence of 1% in this patient group. This frequency is lower than that reported in other studies of other populations. No disease-causing mutations were found in the exfoliative glaucoma patients, indicating a fundamentally different genetic basis for that glaucoma variant.
PubMed ID
12789574 View in PubMed
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Allozyme variation of Macoma baltica (L.) in the Bothnian Sea.

https://arctichealth.org/en/permalink/ahliterature12767
Source
Hereditas. 1985;102(2):277-80
Publication Type
Article
Date
1985

476 records – page 1 of 48.