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ß2-adrenergic receptor Thr164Ile polymorphism, obesity, and diabetes: comparison with FTO, MC4R, and TMEM18 polymorphisms in more than 64,000 individuals.

https://arctichealth.org/en/permalink/ahliterature125626
Source
J Clin Endocrinol Metab. 2012 Jun;97(6):E1074-9
Publication Type
Article
Date
Jun-2012
Author
Mette Thomsen
Morten Dahl
Anne Tybjærg-Hansen
Børge G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark.
Source
J Clin Endocrinol Metab. 2012 Jun;97(6):E1074-9
Date
Jun-2012
Language
English
Publication Type
Article
Keywords
Adult
Body mass index
Cohort Studies
Denmark - epidemiology
Diabetes Mellitus - epidemiology - genetics
Female
Genetic Predisposition to Disease - epidemiology - genetics
Genotype
Humans
Male
Membrane Proteins - genetics
Obesity - epidemiology - genetics
Polymorphism, Single Nucleotide - genetics
Proteins - genetics
Receptor, Melanocortin, Type 4 - genetics
Receptors, Adrenergic, beta-2 - genetics
Risk factors
Abstract
The ß(2)-adrenergic receptor (ADRB2) influences regulation of energy balance by stimulating catecholamine-induced lipolysis in adipose tissue. The rare functional ADRB2rs1800888(Thr164Ile) polymorphism could therefore influence risk of obesity and subsequently diabetes.
We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obesity and diabetes and compared effect sizes with those of FTO(rs9939609), MC4R(rs17782313), and TMEM18(rs6548238).
We conducted a population-based cohort study in Copenhagen, Denmark.
We genotyped more than 64,000 individuals from the Danish general population.
We evaluated body mass index (BMI), obesity (BMI =30 kg/m(2)), and diabetes.
Rare allele frequencies were 0.02 for T for ADRB2rs1800888(Thr164Ile), 0.40 for A for FTOrs9939609, 0.25 for C for MC4Rrs17782313, and 0.20 for T for TMEM18rs6548238. For rare vs. common homozygotes, odds ratio for obesity was 3.32 (95% confidence interval = 1.08-10.19) for ADRB2rs1800888(Thr164Ile), 1.42 (1.35-1.52) for FTOrs9939609, 1.18 (1.06-1.30) for MC4Rrs17782313, and 1.28 (1.10-1.50) for TMEM18rs6548238 (common vs. rare). Corresponding odds ratios for diabetes were 1.85 (0.24-14.29), 1.22 (1.07-1.39), 0.96 (0.80-1.16), and 1.61 (1.17-2.22), respectively. After adjustment for BMI, only TMEM18rs6548238 remained associated with diabetes. BMI was increased in rare vs. common homozygotes in FTOrs9939609, MC4Rrs17782313, and TMEM18rs6548238 (common vs. rare) but not in ADRB2rs1800888(Thr164Ile).
Our results suggest that ADRB2rs1800888(Thr164Ile) rare vs. common homozygotes are not significantly associated with an increase in BMI measured continuously but may be associated with an increased risk of obesity. Also, TMEM18rs6548238 associated with risk of diabetes after adjustment for BMI. These findings need confirmation in other studies.
PubMed ID
22466342 View in PubMed
Less detail

Absence of association between the INSIG2 gene polymorphism (rs7566605) and obesity in the European Youth Heart Study (EYHS).

https://arctichealth.org/en/permalink/ahliterature95295
Source
Obesity (Silver Spring). 2009 Jul;17(7):1453-7
Publication Type
Article
Date
Jul-2009
Author
Vimaleswaran Karani S
Franks Paul W
Brage Soren
Sardinha Luis B
Andersen Lars B
Wareham Nicholas J
Ekelund Ulf
Loos Ruth J F
Author Affiliation
MRC Epidemiology Unit, Institute of Metabolic Science, Cambridge, UK.
Source
Obesity (Silver Spring). 2009 Jul;17(7):1453-7
Date
Jul-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Cross-Sectional Studies
Denmark
Estonia
Europe
Female
Genetic Predisposition to Disease - genetics
Genotype
Humans
Intracellular Signaling Peptides and Proteins - genetics
Lipids - blood
Male
Membrane Proteins - genetics
Obesity - blood - ethnology - genetics
Polymorphism, Single Nucleotide - genetics
Waist Circumference - genetics
Abstract
The first genome-wide association study for BMI identified a polymorphism, rs7566605, 10 kb upstream of the insulin-induced gene 2 (INSIG2) transcription start site, as the most significantly associated variant in children and adults. Subsequent studies, however, showed inconsistent association of this polymorphism with obesity traits. This polymorphism has been hypothesized to alter INSIG2 expression leading to inhibition of fatty acid and cholesterol synthesis. Hence, we investigated the association of the INSIG2 rs7566605 polymorphism with obesity- and lipid-related traits in Danish and Estonian children (930 boys and 1,073 girls) from the European Youth Heart Study (EYHS), a school-based, cross-sectional study of pre- and early pubertal children. The association between the polymorphism and obesity traits was tested using additive and recessive models adjusted for age, age-group, gender, maturity and country. Interactions were tested by including the interaction terms in the model. Despite having sufficient power (98%) to detect the previously reported effect size for association with BMI, we did not find significant effects of rs7566605 on BMI (additive, P = 0.68; recessive, P = 0.24). Accordingly, the polymorphism was not associated with overweight (P = 0.87) or obesity (P = 0.34). We also did not find association with waist circumference (WC), sum of four skinfolds, or with total cholesterol, triglycerides, low-density lipoprotein, or high-density lipoprotein. There were no gender-specific (P = 0.55), age-group-specific (P = 0.63) or country-specific (P = 0.56) effects. There was also no evidence of interaction between genotype and physical activity (P = 0.95). Despite an adequately powered study, our findings suggest that rs7566605 is not associated with obesity-related traits and lipids in the EYHS.
PubMed ID
19197262 View in PubMed
Less detail

[A comparative analysis of genomes of virulent and avirulent strains of Vibrio cholerae O139].

https://arctichealth.org/en/permalink/ahliterature179953
Source
Mol Gen Mikrobiol Virusol. 2004;(2):11-6
Publication Type
Article
Date
2004
Author
G A Eroshenko
A V Osin
E Iu Shchelkanova
N I Smirnova
Author Affiliation
Mikrob Russian Research Anti-Plague Institute, Saratov.
Source
Mol Gen Mikrobiol Virusol. 2004;(2):11-6
Date
2004
Language
Russian
Publication Type
Article
Keywords
Adenosine Triphosphatases - genetics
Bacterial Outer Membrane Proteins - genetics
Bacterial Proteins - genetics
Bacterial Toxins - genetics
Cholera - microbiology
Cholera Toxin - genetics
DNA-Binding Proteins - genetics
Genome, Bacterial
Humans
Membrane Glycoproteins
Membrane Proteins - genetics
Proteins - genetics
Russia
Serine Endopeptidases - genetics
Transcription Factors - genetics
Vibrio cholerae O139 - genetics - pathogenicity
Virulence Factors - genetics
Water Microbiology
Abstract
A comparative analysis of the genome of V. cholerae O139 strains isolated in Russia's territory from patients with cholera and from the environment showed essential differences in their structures. The genome of clinical strains possessed all tested genes associated with virulence (ctxAB, zot, ace, rstC, rtxA, hap, toxR and toxT) and the at-tRS site for the CTXp phage DNA integration. As for the O139 V. cholerae chromosome strains isolated from water, 70% of the studied genes (ctxAB, zot, ace, rstC, tcpA, and toxT) and the attRS sequence were not detected in them. A lack of the key virulence genes in O139-serogroup "water" vibrios, including genes of toxin-coregulated adhesion pili. (that are receptors for the CTXp phage), and of the attachment site of the above phage are indicative of that the O139 V. cholerae strains isolated from open water sources located in different Russia's regions are epidemically negligible.
PubMed ID
15164715 View in PubMed
Less detail

Activation of Notch signaling in human colon adenocarcinoma.

https://arctichealth.org/en/permalink/ahliterature154123
Source
Int J Oncol. 2008 Dec;33(6):1223-9
Publication Type
Article
Date
Dec-2008
Author
Michael Reedijk
Silvia Odorcic
Hui Zhang
Runjan Chetty
Carsten Tennert
Brendan C Dickson
Gina Lockwood
Steven Gallinger
Sean E Egan
Author Affiliation
Program in Developmental Biology and Stem Cell Research, The Hospital for Sick Children, MaRS East Tower, Ontario M5G 1L7, Canada.
Source
Int J Oncol. 2008 Dec;33(6):1223-9
Date
Dec-2008
Language
English
Publication Type
Article
Keywords
Adenocarcinoma - genetics - mortality - pathology
Basic Helix-Loop-Helix Transcription Factors - genetics
Calcium-Binding Proteins - genetics
Cell Differentiation
Colonic Neoplasms - genetics - mortality - pathology
Gene Expression Regulation, Neoplastic
Germany
Glycosyltransferases - genetics
Homeodomain Proteins - genetics
Humans
In Situ Hybridization
Intercellular Signaling Peptides and Proteins - genetics
Kaplan-Meier Estimate
Membrane Proteins - genetics
Ontario
Prognosis
RNA, Messenger - analysis
Receptor, Notch1 - genetics
Receptors, Notch - genetics
Registries
Signal Transduction - genetics
Abstract
Notch and Wnt signaling function together to regulate colonic progenitor cell division and differentiation. Studies in mice have also shown that Notch signaling is required for adenoma formation in response to elevated Wnt-pathway signaling that occurs in the APCMin mouse model of human adenomatous polyposis coli. We therefore used in situ hybridization to analyze expression of Notch ligands, receptors and fringe genes, as well as the Notch target gene, HES1, in human colorectal cancer (CRC). In a small cohort of tumors, JAGGED ligands, NOTCH1, LFNG and HES1 were expressed at levels similar to, or higher than, levels observed in the crypt. To explore the possibility that Notch signaling may play a quantitative role in human CRC we next analyzed HES1 mRNA expression in 130 tumors, each associated with outcome data. The vast majority of these tumors expressed HES1, although at varying levels. Absolute expression levels did not correlate with patient survival. These results establish that JAG ligands and NOTCH1, as well as Notch receptor activation are consistent features of human CRC and support the notion that many of these tumors, like the APCMin mouse, may respond to anti-Notch therapeutic regimes.
Notes
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PubMed ID
19020755 View in PubMed
Less detail

ADAM8 and its single nucleotide polymorphism 2662 T/G are associated with advanced atherosclerosis and fatal myocardial infarction: Tampere vascular study.

https://arctichealth.org/en/permalink/ahliterature149907
Source
Ann Med. 2009;41(7):497-507
Publication Type
Article
Date
2009
Author
Mari Levula
Nina Airla
Niku Oksala
Jussi A Hernesniemi
Markku Pelto-Huikko
Juha-Pekka Salenius
Rainer Zeitlin
Otso Järvinen
Ari-Pekka J Huovila
Seppo T Nikkari
Olli Jaakkola
Erkki Ilveskoski
Jussi Mikkelsson
Markus Perola
Reijo Laaksonen
Leena Kytömäki
Juhani T Soini
Mika Kähönen
Jyrki Parkkinen
Pekka J Karhunen
Terho Lehtimäki
Author Affiliation
Laboratory of Atherosclerosis Genetics, Centre for Laboratory Medicine, Tampere University Hospital and Department of Clinical Chemistry, Medical School, University of Tampere, Finland. mari.levula@uta.fi
Source
Ann Med. 2009;41(7):497-507
Date
2009
Language
English
Publication Type
Article
Keywords
ADAM Proteins - genetics - metabolism
Adult
Alleles
Atherosclerosis - epidemiology - genetics - metabolism
Coronary Vessels - pathology
Finland - epidemiology
Gene Expression
Health Surveys - statistics & numerical data
Humans
Immunohistochemistry
Male
Membrane Proteins - genetics - metabolism
Middle Aged
Myocardial Infarction - genetics - mortality
Phenotype
Polymorphism, Single Nucleotide
RNA, Messenger - metabolism
Risk factors
Statistics, nonparametric
Up-Regulation - genetics
Abstract
Previously, we scanned all 23,000 human genes for differential expression between normal and atherosclerotic tissues and found the involvement of ADAM8.
We investigated the expression of ADAM8 mRNA and protein level in human atherosclerotic tissues and non-atherosclerotic internal thoracic arteries as well as the association of ADAM8 2662 T/G single nucleotide polymorphism (SNP) with the extent of coronary atherosclerosis and with the risk of fatal myocardial infarction.
ADAM8 mRNA was up-regulated in carotid, aortic, and femoral atherosclerotic plaques (n=24) when compared with non-atherosclerotic arteries. ADAM8 protein expression was increased in advanced atherosclerotic plaques as compared to control vessels wherein it was localized to macrophages and smooth muscle cells The G allele carriers of the ADAM8 2662 T/G SNP had significantly larger areas of fibrotic, calcified, and complicated plaques in coronary arteries (P=0.027, P=0.011, and P=0.011, respectively) and significantly higher occurrence of myocardial infarction (MI) (P=0.004) and fatal pre-hospital MI (P=0.003) than did the TT homozygotes.
ADAM8 is a promising candidate to be involved in atherosclerosis, and its 2662 T/G allelic variant significantly associates with advanced atherosclerotic lesion areas and MI.
PubMed ID
19575316 View in PubMed
Less detail

Additive effects of the mutations in the beta3-adrenergic receptor and uncoupling protein-1 genes on weight loss and weight maintenance in Finnish women.

https://arctichealth.org/en/permalink/ahliterature203645
Source
J Clin Endocrinol Metab. 1998 Dec;83(12):4246-50
Publication Type
Article
Date
Dec-1998
Author
M. Fogelholm
R. Valve
K. Kukkonen-Harjula
A. Nenonen
V. Hakkarainen
M. Laakso
M. Uusitupa
Author Affiliation
The UKK Institute for Health Promotion and Research, Tampere, Finland. mikael.fogelholm@helsinki.fi
Source
J Clin Endocrinol Metab. 1998 Dec;83(12):4246-50
Date
Dec-1998
Language
English
Publication Type
Article
Keywords
Adult
Amino Acid Sequence
Base Sequence
Body Weight - physiology
Carrier Proteins - genetics
Energy intake
Energy Metabolism - physiology
Female
Finland
Humans
Ion Channels
Membrane Proteins - genetics
Mitochondrial Proteins
Mutation - genetics - physiology
Receptors, Adrenergic, beta - genetics
Weight Loss - physiology
Abstract
This study examined whether the Trp64Arg mutation in the beta3-adrenergic receptor (beta3AR) and the A-->G mutation in the uncoupling protein-1 (UCP-1) genes have associations with weight loss and subsequent weight maintenance. Seventy-seven obese (body mass index range, 29-46 kg/m2), clinically healthy, premenopausal women were studied. A 12-wk weight reduction by very low calorie diet (VLCD) was followed by a 40-wk weight maintenance phase. The subjects were divided into four groups according to their beta3AR and UCP-1 genotype: no mutation (control; n=37), only Trp64Arg mutation in the beta3AR gene (n=12), only A-->G mutation in the UCP-1 gene (n=23), and both mutations (n=5). Subjects with both mutations had a lower weight reduction during VLCD than the controls [-10.5+/-0.6 (+/-SEM) vs. -14.0+/-0.5 kg; P=0.051, by ANOVA]. During the maintenance phase, weight in subjects with both mutations increased by 5.8+/-1.5 kg, but remained unchanged in the controls (-0.5+/-0.8 kg; P=0.041). The changes in weight in subjects with only one of the mutation were close to the results in the controls. Resting energy expenditure, adjusted for fat mass, fat-free mass, and maximal aerobic power, did not change differently between the groups throughout the study. The results suggest that a combination of the Trp64Arg mutation in the beta3AR and the A-->G mutation in the UCP-1 genes may be associated with faster weight gain after a VLCD.
PubMed ID
9851758 View in PubMed
Less detail

ALOX5AP gene and the PDE4D gene in a central European population of stroke patients.

https://arctichealth.org/en/permalink/ahliterature176042
Source
Stroke. 2005 Apr;36(4):731-6
Publication Type
Article
Date
Apr-2005
Author
Elin Lõhmussaar
Andreas Gschwendtner
Jakob C Mueller
Tõnis Org
Erich Wichmann
Gerhard Hamann
Thomas Meitinger
Martin Dichgans
Author Affiliation
Institutes of Human Genetics, GSF-National Research Institute for Environment and Health, Neuherberg, Germany.
Source
Stroke. 2005 Apr;36(4):731-6
Date
Apr-2005
Language
English
Publication Type
Article
Keywords
3',5'-Cyclic-AMP Phosphodiesterases - genetics
5-Lipoxygenase-Activating Proteins
Aged
Alleles
Carrier Proteins - genetics
Case-Control Studies
Cyclic Nucleotide Phosphodiesterases, Type 3
Cyclic Nucleotide Phosphodiesterases, Type 4
Edetic Acid - chemistry
Europe, Eastern
Female
Gene Frequency
Genetic markers
Genotype
Haplotypes
Humans
Iceland
Ischemia
Linkage Disequilibrium
Magnetic Resonance Imaging
Male
Membrane Proteins - genetics
Microsatellite Repeats
Middle Aged
Odds Ratio
Polymorphism, Single Nucleotide
Regression Analysis
Risk
Risk factors
Sex Factors
Stroke - genetics
Abstract
Recent evidence has implicated the genes for 5-lipoxygenase activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) as susceptibility genes for stroke in the Icelandic population. The aim of the present study was to explore the role of these genes in a central European population of stroke patients.
A total of 639 consecutive stroke patients and 736 unrelated population-based controls that had been matched for age and sex were examined using a case-control design. Twenty-two single-nucleotide polymorphisms (SNPs) covering ALOX5AP were genotyped. For PDE4D, microsatellite AC008818-1 and 12 SNPs, which tag all common haplotypes in previously identified linkage disequilibrium (LD) blocks, were analyzed.
A nominally significant association with stroke was observed with several SNPs from ALOX5AP, including SNP SG13S114, which had been part of the Icelandic at-risk haplotype. Associations were stronger in males than in females, with SG13S114 (odds ratio, 1.24; 95% CI, 1.04 to 1.55; P=0.017) and SG13S100 (odds ratio, 1.26; 95% CI 1.03 to 1.54; P=0.024) showing the strongest associations. No significant associations were detected with single markers and haplotypes in PDE4D. The frequencies of single-marker alleles and haplotypes differed largely from those in the Icelandic population.
The present study suggests that sequence variants in the ALOX5AP gene are significantly associated with stroke, particularly in males. Variants in the PDE4D gene are not a major risk factor for stroke in individuals from central Europe. Population differences in allele and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.
PubMed ID
15731479 View in PubMed
Less detail

Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.

https://arctichealth.org/en/permalink/ahliterature168040
Source
Mol Vis. 2006;12:796-801
Publication Type
Article
Date
2006
Author
Sanna Seitsonen
Susanna Lemmelä
Juha Holopainen
Petri Tommila
Päivi Ranta
Antti Kotamies
Jukka Moilanen
Tapani Palosaari
Kai Kaarniranta
Seppo Meri
Ilkka Immonen
Irma Järvelä
Author Affiliation
Department of Ophthalmology, University of Helsinki, Helsinki, Finland.
Source
Mol Vis. 2006;12:796-801
Date
2006
Language
English
Publication Type
Article
Keywords
Aged
Blood Donors
Case-Control Studies
Complement Factor H - genetics
Extracellular Matrix Proteins - genetics
Eye Proteins - genetics
Finland
Gene Frequency
Genetic Variation
Genotype
Humans
Immunoglobulins
Macular Degeneration - genetics
Membrane Proteins - genetics
Abstract
A strong association of a Tyr402His polymorphism in the complement factor H (CFH) gene and a Met299Val polymorphism in the elongation of very long chain fatty acids-like 4 (ELOVL4) gene with age-related macular degeneration (AMD) has been identified in Caucasian populations in the United States. Earlier a Gln5345Arg variant in the hemicentin 1 (HMCN1) gene was reported in a large AMD family in the United States. We wanted to investigate whether the polymorphisms of the CFH and the ELOVL4 genes or the mutation of the HMCN1 gene are associated with AMD in patients originating from the Finnish population with characteristics of a genetic isolate.
The material consisted of familial (n=181) and sporadic cases (n=154) with AMD, a control group with no AMD (non-AMD controls, n=105), and a control group of anonymous blood donors (blood donor controls, n =350). The DNA of the subjects was sequenced to analyze the variants of the three genes.
We detected a strong association between the C/C-genotype compared to the T/T-genotype of Tyr402His polymorphism (first base of the Tyr-codon changes) of the CFH gene and AMD in the AMD cases compared to the non-AMD (p=8.86x10(-12)) or to blood donor controls (p=2.02x10(-13)). The frequency of the C/C genotype was significantly increased in both familial cases compared to non-AMD controls with non-adjusted odds ratio (OR) 10.1 (confidence intervals [CI] 95% 4.64-22.2) or compared to blood donor controls with non-adjusted OR 5.50 (CI 95% 3.17-9.55) and in sporadic cases with non-adjusted OR 9.33 (CI 95% 4.10-21.3; non-AMD-controls), OR 5.06 (CI 95% 2.75-9.28; blood donor controls). Frequency of C allele differed significantly between cases and controls (p=1.32x10(-11); non-AMD-controls and p=3.94x10(-14); blood donor controls). No association with AMD was detected with Met299Val polymorphism in the ELOVL4 gene in the familial or sporadic cases compared to non-AMD or blood donor controls. None of our subjects (258 AMD cases, 72 non-AMD controls) had the Gln5345Arg variant in the HMCN1 gene.
The CFH gene polymorphism seems to be an important etiologic factor for AMD also in the isolated Finnish population.
PubMed ID
16885922 View in PubMed
Less detail

APP heterozygosity averts memory deficit in knockin mice expressing the Danish dementia BRI2 mutant.

https://arctichealth.org/en/permalink/ahliterature134422
Source
EMBO J. 2011 Jun 15;30(12):2501-9
Publication Type
Article
Date
Jun-15-2011
Author
Robert Tamayev
Shuji Matsuda
Luca Giliberto
Ottavio Arancio
Luciano D'Adamio
Author Affiliation
Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA.
Source
EMBO J. 2011 Jun 15;30(12):2501-9
Date
Jun-15-2011
Language
English
Publication Type
Article
Keywords
Alzheimer Disease - genetics
Amyloid beta-Peptides - genetics
Animals
Dementia - genetics
Denmark
Disease Models, Animal
Gene Knock-In Techniques
Heterozygote Detection
Humans
Male
Membrane Proteins - genetics - metabolism
Memory Disorders - genetics - prevention & control
Mice
Mice, Inbred C57BL
Mice, Transgenic
Mutant Chimeric Proteins - genetics
Mutation
Peptide Fragments - genetics
Abstract
An autosomal dominant mutation in the BRI2/ITM2B gene causes familial Danish dementia (FDD). Analysis of FDD(KI) mice, a mouse model of FDD genetically congruous to the human disease since they carry one mutant and one wild-type Bri2/Itm2b allele, has shown that the Danish mutation causes loss of Bri2 protein, synaptic plasticity and memory impairments. BRI2 is a physiological interactor of Aß-precursor protein (APP), a gene associated with Alzheimer disease, which inhibits processing of APP. Here, we show that APP/Bri2 complexes are reduced in synaptic membranes of FDD(KI) mice. Consequently, APP metabolites derived from processing of APP by ß-, a- and ?-secretases are increased in Danish dementia mice. APP haplodeficiency prevents memory and synaptic dysfunctions, consistent with a role for APP metabolites in the pathogenesis of memory and synaptic deficits. This genetic suppression provides compelling evidence that APP and BRI2 functionally interact, and that the neurological effects of the Danish form of BRI2 only occur when sufficient levels of APP are supplied by two alleles. This evidence establishes a pathogenic sameness between familial Danish and Alzheimer's dementias.
Notes
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PubMed ID
21587206 View in PubMed
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Are TMEM genes potential candidate genes for panic disorder?

https://arctichealth.org/en/permalink/ahliterature105521
Source
Psychiatr Genet. 2014 Feb;24(1):37-41
Publication Type
Article
Date
Feb-2014
Author
Noomi O Gregersen
Henriette N Buttenschøn
Anne Hedemand
Hans A Dahl
Ann S Kristensen
Birita Clementsen
David P D Woldbye
Pernille Koefoed
Angelika Erhardt
Torben A Kruse
August G Wang
Anders D Børglum
Ole Mors
Author Affiliation
aTranslational Neuropsychiatry Unit, Department of Clinical Medicine bDepartment of Biomedicine and Centre for Integrative Sequencing (iSEQ), Aarhus University cThe Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) dResearch Department P, Aarhus University Hospital, Risskov eAmplexa Genetics A/S fDepartment of Clinical Genetics, University of Southern Denmark, Odense gLaboratory of Neuropsychiatry, University of Copenhagen hDepartment of Psychiatry, HS Amager Hospital, Copenhagen University Hospital, Copenhagen, Denmark iDepartment of Psychiatry, the National Hospital, Torshavn, Faroe Islands jMax Planck Institute of Psychiatry, Munich, Germany.
Source
Psychiatr Genet. 2014 Feb;24(1):37-41
Date
Feb-2014
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Chromosomes, Human, Pair 17
Humans
Membrane Proteins - genetics
Panic Disorder - genetics
Polymorphism, Single Nucleotide
Abstract
We analysed single nucleotide polymorphisms in two transmembrane genes (TMEM98 and TMEM132E) in panic disorder (PD) patients and control individuals from the Faroe Islands, Denmark and Germany. The genes encode single-pass membrane proteins and are located within chromosome 17q11.2-q12, a previously reported candidate region for PD. Three single nucleotide polymorphisms (rs887231, rs887230 and rs4795942) located upstream and within TMEM132E showed a nominal significant association with PD primarily in the Danish cohort. No nominal significant associations were observed between TMEM98 and PD. Our data indicate that TMEM132E might contribute moderately towards the risk of developing PD.
PubMed ID
24362369 View in PubMed
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