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An MHC (HLA-A, -B, C2, BF, HLA-DR, GLO1) haplotype study of 497 Danish normal families with 1970 children including 97 twin pairs.

https://arctichealth.org/en/permalink/ahliterature37544
Source
Tissue Antigens. 1990 Oct;36(4):141-8
Publication Type
Article
Date
Oct-1990
Author
L S Nielsen
H. Eiberg
K. Fenger
J. Mohr
Author Affiliation
Institute of Medical Genetics, University of Copenhagen, Denmark.
Source
Tissue Antigens. 1990 Oct;36(4):141-8
Date
Oct-1990
Language
English
Publication Type
Article
Keywords
Denmark
Female
Genetic Screening
HLA-A Antigens - genetics
HLA-B Antigens - genetics
HLA-C Antigens - genetics
HLA-DR Antigens - genetics
Haplotypes - genetics
Histocompatibility testing
Humans
Major Histocompatibility Complex - genetics
Male
Recombination, Genetic
Research Support, Non-U.S. Gov't
Twins - genetics
Twins, Dizygotic - genetics
Abstract
Extended MHC haplotypes comprising HLA-A, -B, -DR, C2, BF and GLO1 loci observed in the parents of 497 Danish normal families are presented, with particular regard to the haplotypes that include BF variants or the C2*2 allele. The known association of HLA-B35, -DR1 with both -A3 and -A11 appeared to depend upon the BF type: HLA-B35, BF*S, -DR1 is strongly associated with -A11, whereas -B35,BF*F,-DR1 is strongly associated with -A3. Further, in the present material DZ twins of the same sex shared HLA-haplotypes more often than did twin pairs of different sex.
PubMed ID
2077670 View in PubMed
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Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q.

https://arctichealth.org/en/permalink/ahliterature35252
Source
Nat Genet. 1995 Jul;10(3):354-6
Publication Type
Article
Date
Jul-1995
Author
H. Eiberg
I. Berendt
J. Mohr
Author Affiliation
University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics, Danish Centre for Genome Research, Copenhagen, Denmark.
Source
Nat Genet. 1995 Jul;10(3):354-6
Date
Jul-1995
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Chromosome Mapping
Chromosomes, Human, Pair 13
Denmark
Enuresis - classification - genetics
Female
Genes, Dominant
Genetic markers
Humans
Linkage (Genetics)
Lod Score
Male
Pedigree
Research Support, Non-U.S. Gov't
Abstract
Nocturnal enuresis, or nightly bedwetting in children more than seven years of age affects about 10% of seven-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general practice. From the age of seven there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are two types of nocturnal enuresis: type I (PEN1, primary) with at least three nightly episodes in children above seven years, where the child has always had the disorder and type II (secondary) where the child has been dry for at least six months, but enuresis has recurred. Among some 400 Danish, mostly three-generation families, we have found 17 families with nocturnal enuresis. Eleven of these family had type I nocturnal enuresis (PEN1) that appeared to follow an autosomal dominant mode of inheritance with penetrance above 90%. We now describe strong evidence of linkage with the DNA polymorphisms D13S291 (Z = 3.55; theta M = F = 0.07) and D13S263 (Z = 2.67; theta M = F = 0.08). Multipoint analysis indicates that these markers flank the disease locus at chromosome 13q13-q14.3.
PubMed ID
7670476 View in PubMed
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Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects.

https://arctichealth.org/en/permalink/ahliterature34929
Source
Acta Ophthalmol Scand. 1996 Feb;74(1):3-7
Publication Type
Article
Date
Feb-1996
Author
B. Kjer
H. Eiberg
P. Kjer
T. Rosenberg
Author Affiliation
Department of Ophthalmology, Hvidovre Hospital, Denmark.
Source
Acta Ophthalmol Scand. 1996 Feb;74(1):3-7
Date
Feb-1996
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Child
Chromosome Mapping
Chromosomes, Human, Pair 3 - genetics
Denmark - epidemiology
Female
Follow-Up Studies
Genetic markers
Humans
Linkage (Genetics) - genetics
Lod Score
Male
Middle Aged
Optic Atrophies, Hereditary - epidemiology - genetics - physiopathology
Pedigree
Prevalence
Research Support, Non-U.S. Gov't
Retrospective Studies
Risk factors
Visual acuity
Abstract
Sixty-two patients from three large Danish families with autosomal dominant optic atrophy were clinically examined, and retrospective follow-up was made on 30 patients. We found great inter-and intrafamiliar variation in visual acuity and visual decline. One hundred and seventy-five chromosomal markers were analyzed in 118 family members. Linkage was demonstrated between the disease gene (OPA1) and the microsatellite markers D3S1314, D3S1262, D3S1265 and D3S1601, with the highest Lod score to D3S1601 Z=11.75. All markers are located on chromosome 3q in the telomeric area, the most probable location for the OPA1 gene being D3S1601-OPA1-D3S1265. Using data from the Danish Family Register of Hereditary Eye Diseases, the minimum prevalence rate was estimated to 1:12.301, making DOA the most common hereditary optic atrophy.
PubMed ID
8689476 View in PubMed
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Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material.

https://arctichealth.org/en/permalink/ahliterature234903
Source
Clin Genet. 1987 Aug;32(2):118-9
Publication Type
Article
Date
Aug-1987
Author
M L Bisgaard
H. Eiberg
N. Møller
E. Niebuhr
J. Mohr
Author Affiliation
University Institute of Medical Genetics, Copenhagen, Denmark.
Source
Clin Genet. 1987 Aug;32(2):118-9
Date
Aug-1987
Language
English
Publication Type
Article
Keywords
Chromosomes, Human, Pair 15
Denmark
Dyslexia - genetics
Female
Genetic Linkage
Humans
Lod Score
Male
Polymorphism, Genetic
Abstract
From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i.e., in our material we did not find any confirmation of the indication of linkage between dyslexia and a chromosome 15 polymorphism found in part of their material by Smith et al. (1983, 1986).
PubMed ID
3652490 View in PubMed
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Fasting and oral glucose-stimulated levels of glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) are highly familial traits.

https://arctichealth.org/en/permalink/ahliterature126848
Source
Diabetologia. 2012 May;55(5):1338-45
Publication Type
Article
Date
May-2012
Author
A P Gjesing
C T Ekstrøm
H. Eiberg
S A Urhammer
J J Holst
O. Pedersen
T. Hansen
Author Affiliation
Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, University of Copenhagen, Universitetsparken 1, DK-2100 Copenhagen, Denmark. anette.gjesing@sund.ku.dk
Source
Diabetologia. 2012 May;55(5):1338-45
Date
May-2012
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Blood Glucose - metabolism
C-Peptide - blood
Denmark - epidemiology
Diabetes Mellitus, Type 2 - blood - genetics - metabolism
Fasting
Female
Gastric Inhibitory Polypeptide - blood
Glucagon-Like Peptide 1 - blood
Glucose Tolerance Test
Humans
Insulin - blood - secretion
Insulin-Secreting Cells - metabolism
Male
Middle Aged
Abstract
Heritability estimates have shown a varying degree of genetic contribution to traits related to type 2 diabetes. Therefore, the objective of this study was to investigate the familiality of fasting and stimulated measures of plasma glucose, serum insulin, serum C-peptide, plasma glucose-dependent insulinotropic polypeptide (GIP) and plasma glucagon-like peptide-1 (GLP-1) among non-diabetic relatives of Danish type 2 diabetic patients.
Sixty-one families comprising 193 non-diabetic offspring, 29 non-diabetic spouses, 72 non-diabetic relatives (parent, sibling, etc.) and two non-related relatives underwent a 4 h 75 g OGTT with measurements of plasma glucose, serum insulin, serum C-peptide, plasma GIP and plasma GLP-1 levels at 18 time points. Insulin secretion rates (ISR) and beta cell responses to glucose, GIP and GLP-1 were calculated. Familiality was estimated based on OGTT-derived measures.
A high level of familiality was observed during the OGTT for plasma levels of GIP and GLP-1, with peak familiality values of 74 ? 16% and 65 ? 15%, respectively (h (2) ? SE). Familiality values were lower for plasma glucose, serum insulin and serum C-peptide during the OGTT (range 8-48%, 14-44% and 15-61%, respectively). ISR presented the highest familiality value at fasting reaching 59 ? 16%. Beta cell responsiveness to glucose, GLP-1 and GIP also revealed a strong genetic influence, with peak familiality estimates of 62 ? 13%, 76 ? 15% and 70 ? 14%, respectively.
Our results suggest that circulating levels of GIP and GLP-1 as well as beta cell response to these incretins are highly familial compared with more commonly investigated measures of glucose homeostasis such as fasting and stimulated plasma glucose, serum insulin and serum C-peptide.
PubMed ID
22349073 View in PubMed
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A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

https://arctichealth.org/en/permalink/ahliterature50793
Source
Hum Genet. 2001 Nov;109(5):498-502
Publication Type
Article
Date
Nov-2001
Author
D L Thiselton
C. Alexander
A. Morris
S. Brooks
T. Rosenberg
H. Eiberg
B. Kjer
P. Kjer
S S Bhattacharya
M. Votruba
Author Affiliation
Department of Molecular Genetics, Institute of Ophthalmology, University College London, EC1 V 9EL, UK. dthiselt@hgmp.mrc.ac.uk
Source
Hum Genet. 2001 Nov;109(5):498-502
Date
Nov-2001
Language
English
Publication Type
Article
Keywords
Alleles
Base Sequence
DNA
Denmark - epidemiology
Exons
Female
Frameshift Mutation
GTP Phosphohydrolases - genetics
Haplotypes
Humans
Male
Optic Atrophy, Autosomal Dominant - epidemiology - genetics
Pedigree
Prevalence
Research Support, Non-U.S. Gov't
Abstract
Dominant optic atrophy (DOA) is a hereditary optic neuropathy characterised by decreased visual acuity, colour vision deficits, centro-coecal scotoma and optic nerve pallor. The gene OPA1, encoding a dynamin-related GTPase, has recently been identified within the genetic linkage interval for the major locus for DOA on chromosome 3q28 and shown to harbour genetic aberrations segregating with disease in DOA families. The prevalence of the disorder in Denmark is reported to be the highest of any geographical location, suggestive of a founder effect. In order to establish the genetic basis of disease in a sample of 33 apparently unrelated Danish families, we screened DNA from affected members for OPA1 gene mutations by heteroduplex analysis and direct sequencing. A novel identical mutation in exon 28 (2826delT) was associated with DOA in 14 pedigrees and led to a frameshift and abnormal OPA1 protein -COOH terminus. Haplotype analysis of a region of approximately 1 Mb flanking the OPA1 gene using eight polymorphic markers revealed a common haplotype shared by all 14 patients; this haplotype was markedly over-represented compared with ethnically matched controls. Statistical analysis confirmed significant linkage disequilibrium with DOA over approximately 600 kb encompassing the disease mutation. We have therefore demonstrated that the relatively high frequency of DOA in Denmark is attributable to a founder mutation responsible for approximately 42% of the examined families and suggest that presymptomatic screening for the (2826delT) mutation may facilitate diagnosis and genetic counselling in a significant proportion of DOA patients of Danish ancestry.
PubMed ID
11735024 View in PubMed
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From research to prevention in Greenland

https://arctichealth.org/en/permalink/ahliterature286408
Source
Page 381 in S. Chatwood, P. Orr and Tiina Ikaheimo, eds. Proceedings of the 14th International Congress on Circumpolar Health, Yellowknife, Canada, July 11-16, 2009. Securing the IPY Legacy: from Research to Action. International Journal of Circumpolar Health 2010; 69 (Suppl 7).
Publication Type
Conference/Meeting Material
Date
2010
FROM RESEARCH TO PREVENTION IN GREENLAND l.M. Nielsen 1 , P. Kern 2 , H. Eiberg 1 1 Dept. of Cellular and Molecular Medicine, University of Copenhagen, 2 Queen In grids Hospital, Nuuk, Greenland Three years prenatal screening of pregnant women for two lethal autosomal recessive inherited
  1 document  
Author
I.M. Nielsen
P. Kern
H. Eiberg
Author Affiliation
Dept. of Cellular and Molecular Medicine, University of Copenhagen
Queen Ingrids Hospital, Nuuk, Greenland
Source
Page 381 in S. Chatwood, P. Orr and Tiina Ikaheimo, eds. Proceedings of the 14th International Congress on Circumpolar Health, Yellowknife, Canada, July 11-16, 2009. Securing the IPY Legacy: from Research to Action. International Journal of Circumpolar Health 2010; 69 (Suppl 7).
Date
2010
Language
English
Geographic Location
Greenland
Publication Type
Conference/Meeting Material
Digital File Format
Text - PDF
Physical Holding
University of Alaska Anchorage
Notes
Part of Abstracts: Posters. Chapter 9. Indigenous Health and Wellbeing.
Documents
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Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

https://arctichealth.org/en/permalink/ahliterature51177
Source
Hum Mol Genet. 1994 Feb;3(2):323-5
Publication Type
Article
Date
Feb-1994
Author
A. Gal
S. Xu
Y. Piczenik
H. Eiberg
C. Duvigneau
E. Schwinger
T. Rosenberg
Author Affiliation
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Source
Hum Mol Genet. 1994 Feb;3(2):323-5
Date
Feb-1994
Language
English
Publication Type
Article
Keywords
Chromosome Mapping
Chromosomes, Human, Pair 4
Denmark
Electroretinography
Female
Genes
Genes, Dominant
Humans
Linkage (Genetics)
Male
Night Blindness - congenital - genetics - physiopathology
Pedigree
Research Support, Non-U.S. Gov't
Rods (Retina) - enzymology
Transducin - genetics
Abstract
We studied a large multigeneration Danish family with autosomal dominant congenital stationary night blindness. Both electrophysiological and psychophysical findings in affected family members were identical to those reported in patients from the 'Nougaret family'. The disease locus in the Danish family has now been mapped by demonstrating close linkage without recombination (Q = 0.00 at Zmax = 14.4) to the locus for alpha-L-iduronidase assigned to chromosome 4p16.3. Interestingly the gene for the beta-subunit of the rod photoreceptor cGMP-specific phosphodiesterase maps to the very same chromosomal region.
PubMed ID
8004102 View in PubMed
Less detail

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

https://arctichealth.org/en/permalink/ahliterature72418
Source
J Invest Dermatol. 1999 Feb;112(2):184-90
Publication Type
Article
Date
Feb-1999
Author
C B Sørensen
A S Ladekjaer-Mikkelsen
B S Andresen
F. Brandrup
N K Veien
S K Buus
I. Anton-Lamprecht
T A Kruse
P K Jensen
H. Eiberg
L. Bolund
N. Gregersen
Author Affiliation
Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Denmark.
Source
J Invest Dermatol. 1999 Feb;112(2):184-90
Date
Feb-1999
Language
English
Publication Type
Article
Keywords
Denmark
Epidermolysis Bullosa Simplex - genetics
Family Health
Female
Genotype
Haplotypes
Humans
Keratin - genetics
Linkage (Genetics)
Male
Mutation
Pedigree
Phenotype
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Abstract
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin diseases caused by mutations in either the keratin 5 (K5) or the keratin 14 (K14) genes and characterized by development of intraepidermal skin blisters. The three major subtypes of EBS are Weber-Cockayne, Koebner, and Dowling-Meara, of which the Dowling-Meara form is the most severe. We have investigated five large Danish families with EBS and two sporadic patients with the Dowling-Meara form of EBS. In the sporadic Dowling-Meara EBS patients, a novel K14 mutation (N123S) and a previously published K5 mutation (N176S) were identified, respectively. A novel K14 mutation (K116N) was found in three seemingly unrelated families, whereas another family harbored a different novel K14 mutation (L143P). The last family harbored a novel K5 mutation (L325P). The identified mutations were not present in more than 100 normal chromosomes. Six polymorphisms were identified in the K14 gene and their frequencies were determined in normal controls. These polymorphisms were used to show that the K14 K116N mutation was located in chromosomes with the same haplotype in all three families, suggesting a common ancestor. We observed a strict genotype-phenotype correlation in the investigated patients as the same mutation always resulted in a similar phenotype in all individuals with the mutation, but our results also show that it is not possible to predict the EBS phenotype merely by the location (i.e., head, rod, or linker domains) of a mutation. The nature of the amino acid substitution must also be taken into account.
PubMed ID
9989794 View in PubMed
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Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians.

https://arctichealth.org/en/permalink/ahliterature10704
Source
Diabetes. 1999 Apr;48(4):914-7
Publication Type
Article
Date
Apr-1999
Author
L T Dalgaard
T. Hansen
S A Urhammer
J O Clausen
H. Eiberg
O. Pedersen
Author Affiliation
Steno Diabetes Center, Glostrup University Hospital, Denmark.
Source
Diabetes. 1999 Apr;48(4):914-7
Date
Apr-1999
Language
English
Publication Type
Article
Keywords
Adult
Denmark
Diabetes Mellitus, Type 2 - genetics
European Continental Ancestry Group - genetics
Female
Glucose - pharmacology
Humans
Iron-Binding Proteins
Islets of Langerhans - drug effects
Male
Middle Aged
Phosphotransferases (Alcohol Group Acceptor) - genetics
Research Support, Non-U.S. Gov't
Trinucleotide Repeat Expansion - physiology
Abstract
A variable expansion of a GAA repeat is present in the first intron of the frataxin gene, also termed FRDA1 or X25. Long repeat lengths (>66 repeats) are present in patients with Friedreich's ataxia, while an intermediate expansion (10-66 repeats) has recently been reported to be highly associated with type 2 diabetes. Using a polymerase chain reaction-based assay, we found that 32.4% (95%CI 29.9-34.9) of 636 Danish Caucasian type 2 diabetic patients were carriers of an intermediate expansion, whereas the frequency was 30.4% (26.4-34.4) among 224 matched glucose-tolerant control subjects (P = 0.6). In the control subjects, the values of serum insulin and C-peptide responses during an oral glucose tolerance test were similar between the 69 carriers and 155 noncarriers. Furthermore, we investigated a possible relationship between expansions of the FRDA1 gene and glucose-induced beta-cell function in 338 young Caucasians (33.7% [30.1-37.3] carriers) and in 215 glucose-tolerant subjects (31.0% [26.6-35.4] carriers) with a type 2 diabetic parent. In neither population did the carriers differ from noncarriers according to values of fasting plasma glucose, serum insulin, or C-peptide, acute serum insulin, or C-peptide responses after intravenous glucose. In conclusion, intermediate expansion of the frataxin trinucleotide repeat is not associated with type 2 diabetes or altered glucose-induced insulin secretion in Danish Caucasians.
PubMed ID
10102712 View in PubMed
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21 records – page 1 of 3.