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1151 records – page 1 of 116.

5-HT2C receptor and MAO-A interaction analysis: no association with suicidal behaviour in bipolar patients.

https://arctichealth.org/en/permalink/ahliterature157011
Source
Eur Arch Psychiatry Clin Neurosci. 2008 Oct;258(7):428-33
Publication Type
Article
Date
Oct-2008
Author
Vincenzo De Luca
Subi Tharmaligam
John Strauss
James L Kennedy
Author Affiliation
Dept. of Psychiatry, University of Toronto, 250 College Street, R-30, Toronto (ON), Canada M5T 1R8. vincenzo_deluca@camh.net
Source
Eur Arch Psychiatry Clin Neurosci. 2008 Oct;258(7):428-33
Date
Oct-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Bipolar Disorder - genetics - psychology
Canada
Family Health
Female
Gene Frequency
Genes, X-Linked
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Male
Middle Aged
Monoamine Oxidase - genetics
Nuclear Family
Polymorphism, Single Nucleotide
Receptor, Serotonin, 5-HT2C - genetics
Suicide, Attempted - psychology
Young Adult
Abstract
The serotonin 2C (HTR2C) receptor has been implicated in suicide-related behaviours, however there are not many studies to date about HTR2C and suicidality. We studied HTR2C haplotypes in suicide attempters, where our sample composed of 306 families with at least one member affected by bipolar disorder. HTR2C (Cys23Ser and a common STR in the promoter) variants were analyzed with respect to attempter status and the severity of suicidal behaviour. The X-linked haplotype analysis in relation to suicide attempt did not reveal any significant association. Furthermore, we performed a particular gene-gene interaction for the X-linked serotonergic genes (HTR2C and MAOA), and found no association among this intergenic haplotype combination and suicidal behaviour in bipolar disorder.
PubMed ID
18504633 View in PubMed
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6-Locus HLA allele and haplotype frequencies in a population of 1075 Russians from Karelia.

https://arctichealth.org/en/permalink/ahliterature301335
Source
Hum Immunol. 2019 Feb; 80(2):95-96
Publication Type
Journal Article
Date
Feb-2019
Author
Yvonne Hagenlocher
Beatrix Willburger
Geoffrey A Behrens
Alexander H Schmidt
Yuri Ioffe
Jürgen Sauter
Author Affiliation
DKMS German Bone Marrow Donor Center, Tübingen, Germany.
Source
Hum Immunol. 2019 Feb; 80(2):95-96
Date
Feb-2019
Language
English
Publication Type
Journal Article
Keywords
Alleles
Gene Frequency
Genetic Loci
Genetics, Population
Genotype
HLA Antigens - genetics
Haplotypes
Humans
Population Groups
Russia - ethnology
Abstract
A total of 1075 Russians from the Russian part of Karelia were genotyped at high-resolution for the human leukocyte antigen loci HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1 using next generation sequencing methods. The haplotypic and allelic profiles as well as Hardy-Weinberg proportions of this population sample were evaluated. As the most frequent 6-locus haplotype, A*03:01?g?~?B*07:02?g?~?C*07:02?g?~?DRB1*15:01?g?~?DQB1*06:02?g?~?DPB1*04:01?g was identified with an estimated frequency of 3.5%. No deviation from Hardy-Weinberg Equilibrium was detected at any of the loci studied. The HLA genotypic data of the population sample reported here are available publicly in the Allele Frequencies Net Database under the population name "Russia Karelia" and the identifier AFN3430.
PubMed ID
30391501 View in PubMed
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A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
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164Ile allele in the beta2-Adrenergic receptor gene is associated with risk of elevated blood pressure in women. The Copenhagen City Heart Study.

https://arctichealth.org/en/permalink/ahliterature173671
Source
Pharmacogenet Genomics. 2005 Sep;15(9):633-45
Publication Type
Article
Date
Sep-2005
Author
Amar A Sethi
Anne Tybjaerg-Hansen
Gorm B Jensen
Børge G Nordestgaard
Author Affiliation
Department of Clinical Biochemistry, Herlev University Hospital, Herlev, Denmark.
Source
Pharmacogenet Genomics. 2005 Sep;15(9):633-45
Date
Sep-2005
Language
English
Publication Type
Article
Keywords
Alleles
Arginine - chemistry
Blood pressure
Body mass index
Denmark
Female
Gene Expression Regulation
Gene Frequency
Genetic Variation
Genotype
Glutamic Acid - chemistry
Glutamine - chemistry
Glycine - chemistry
Haplotypes
Heart rate
Heterozygote
Humans
Hypertension - genetics
Isoleucine - chemistry
Linkage Disequilibrium
Male
Receptors, Adrenergic, beta-2 - genetics
Risk
Risk factors
Sequence Analysis, DNA
Sex Factors
Time Factors
Abstract
Since beta2-adrenergic receptors are important regulators of blood pressure, genetic variation in this receptor could explain risk of elevated blood pressure in selected individuals. We tested the hypothesis that Gly16Arg, Gln27Glu, and Thr164Ile in the beta2-adrenergic receptor gene associated with elevated blood pressure.
We genotyped 9185 individuals from the adult Danish general population.
Allele frequencies of 16Arg, 27Glu, and 164Ile were 0.38, 0.44, and 0.01, respectively. Among women never treated with antihypertensive medication those heterozygous for Thr164Ile versus non-carriers had increased diastolic blood pressure (P=0.02). Women heterozygous for Thr164Ile versus non-carriers had an odds ratio for elevated blood pressure of 1.93 (95% CI: 1.30-2.86). Finally, women double heterozygous for Thr164Ile and Gln27Glu or Gly16Arg versus non-carriers at all 3 loci had an odds ratio for elevated blood pressure of 2.49 (1.28-4.85) or 3.19 (1.46-6.97). In men, blood pressure was not influenced by this genetic variation.
In women Thr164Ile heterozygosity is associated with increased diastolic blood pressure, and represent a risk factor for elevated blood pressure in women in the general population. This was most pronounced in those women also heterozygous for Gln27Glu or Gly16Arg.
PubMed ID
16041242 View in PubMed
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The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.

https://arctichealth.org/en/permalink/ahliterature153810
Source
Fam Cancer. 2009;8(1):1-4
Publication Type
Article
Date
2009
Author
Silvija Ozolina
Olga Sinicka
Eriks Jankevics
Inna Inashkina
Jan Lubinski
Bohdan Gorski
Jacek Gronwald
Tatyana Nasedkina
Olga Fedorova
Ludmila Lyubchenko
Laima Tihomirova
Author Affiliation
Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
Source
Fam Cancer. 2009;8(1):1-4
Date
2009
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
DNA Mutational Analysis
Female
Founder Effect
Genes, BRCA1
Genetic Predisposition to Disease
Haplotypes
Humans
Latvia
Male
Microsatellite Repeats
Mutation
Pedigree
Poland
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Russia
Abstract
Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be "T-A-A-A-A-G" for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
PubMed ID
19067236 View in PubMed
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ABCB1 haplotypes differentially affect the pharmacokinetics of the acid and lactone forms of simvastatin and atorvastatin.

https://arctichealth.org/en/permalink/ahliterature152450
Source
Clin Pharmacol Ther. 2008 Oct;84(4):457-61
Publication Type
Article
Date
Oct-2008
Author
J E Keskitalo
K J Kurkinen
P J Neuvoneni
M. Niemi
Author Affiliation
Department of Clinical Pharmacology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Source
Clin Pharmacol Ther. 2008 Oct;84(4):457-61
Date
Oct-2008
Language
English
Publication Type
Article
Keywords
Area Under Curve
Cross-Over Studies
Female
Finland
Half-Life
Haplotypes
Heptanoic Acids - pharmacokinetics
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacokinetics
Lactones - pharmacokinetics
Male
P-Glycoprotein - genetics
Polymorphism, Single Nucleotide
Pyrroles - pharmacokinetics
Simvastatin - pharmacokinetics
Abstract
ABCB1 haplotypes were determined in 534 healthy Finnish volunteers, of whom 24 participated in a pharmacokinetic study on simvastatin and atorvastatin. The frequencies of occurrence of haplotypes c.1236T-c.2677T-c.3435T and c.1236C-c.2677G-c.3435C were 42.7 and 34.4%, respectively. The simvastatin acid AUC(0-12h) was 60% larger, the atorvastatin AUC(0-infinity) 55% larger, and the atorvastatin half-life 24% longer in subjects with the ABCB1 TTT/TTT genotype (n = 12) than in those with the CGC/CGC genotype (n = 12) (P
PubMed ID
19238649 View in PubMed
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[A comparative analysis of tuberculosis susceptibility genetic make-up in Tuvinians and Russians]

https://arctichealth.org/en/permalink/ahliterature82359
Source
Mol Biol (Mosk). 2006 Mar-Apr;40(2):252-62
Publication Type
Article
Author
Freidin M B
Rudko A A
Kolokolova O V
Ondar E A
Strelis A K
Puzyrev V P
Source
Mol Biol (Mosk). 2006 Mar-Apr;40(2):252-62
Language
Russian
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Alleles
Ethnic Groups
Female
Gene Frequency - genetics
Genetic Predisposition to Disease - epidemiology - genetics
Haplotypes
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Siberia - epidemiology - ethnology
Tuberculosis - epidemiology - ethnology - genetics
Abstract
The results of the first Russian study of polymorphisms of tuberculosis (TB) susceptibility genes SLC11A1, VDR, IL12B, IL1B, IL1RN in Tuvinians from Tuva Republic and Russians from Tomsk city are presented. In Tuvinians, as compared with Russians, the significantly higher prevalence of potentially disease-associated alleles of the genes studied was shown: SLC11A1*543N (0.139 and 0.043, respectively, p = 4.6E-5), IL12B*1188C (0.378 and 0.174, respectively, p = 1.1E-8), VDR*b (0.825 and 0.532, respectively, p = 3.2E-16), IL1B*(+3953A1) (0.865 and 0.806, respectively, p = 0.035). However, no one of these alleles was associated with TB in Tuvinians, whereas, in Russians TB patients, in comparison with the controls, there was a higher prevalence of the following markers: IL1RN*A2 (0.258 and 0.186, respectively, p = 0.024), SLC11A1*274T (0.251 and 0.164, respectively, p = 0.009), IL12B*1188C (0.240 and 0.174, respectively, p = 0.044), ILIB*(+3953A2) (0.259 and 0.194, respectively, p = 0.044). Distinct patterns of linkage disequilibrium between pairs of the polymorphisms studied in Tuvinians and Russians were shown. At whole, the data obtained demonstrate the ethnic specificity of the distribution and pathogenetic significance of the alleles of the TB susceptibility genes.
PubMed ID
16637265 View in PubMed
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Activity of the pituitary-gonadal axis is increased prior to the onset of spawning migration of chum salmon.

https://arctichealth.org/en/permalink/ahliterature90768
Source
J Exp Biol. 2009 Jan;212(Pt 1):56-70
Publication Type
Article
Date
Jan-2009
Author
Onuma Takeshi A
Sato Shunpei
Katsumata Hiroshi
Makino Keita
Hu Weiwei
Jodo Aya
Davis Nancy D
Dickey Jon T
Ban Masatoshi
Ando Hironori
Fukuwaka Masa-Aki
Azumaya Tomonori
Swanson Penny
Urano Akihisa
Author Affiliation
Graduate School of Bioresource and Bioenvironmental Sciences, Kyushu University, Fukuoka 812-8581, Japan. takeshikiai@msn.com
Source
J Exp Biol. 2009 Jan;212(Pt 1):56-70
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Age Factors
Analysis of Variance
Animal Migration - physiology
Animals
DNA Primers - genetics
DNA, Mitochondrial - genetics
Follicle Stimulating Hormone, beta Subunit - metabolism
Gonadal Steroid Hormones - blood
Gonads - metabolism - physiology
Haplotypes - genetics
Microarray Analysis
Oncorhynchus keta - physiology
Pacific Ocean
Pituitary Gland - metabolism - physiology
RNA, Messenger - metabolism
Radioimmunoassay
Reverse Transcriptase Polymerase Chain Reaction
Seasons
Sexual Behavior, Animal - physiology
Abstract
The activity of the pituitary-gonadal axis (PG axis) in pre-migratory and homing chum salmon was examined because endocrine mechanisms underlying the onset of spawning migration remain unknown. Pre-migratory fish were caught in the central Bering Sea in June, July and September 2001, 2002 and 2003, and in the Gulf of Alaska in February 2006. They were classified into immature and maturing adults on the basis of gonadal development. The maturing adults commenced spawning migration to coastal areas by the end of summer, because almost all fish in the Bering Sea were immature in September. In the pituitaries of maturing adults, the copy numbers of FSHbeta mRNA and the FSH content were 2.5- to 100-fold those of the immature fish. Similarly, the amounts of LHbeta mRNA and LH content in the maturing adults were 100- to 1000-fold those of immature fish. The plasma levels of testosterone, 11-ketotestosterone and estradiol were higher than 10 nmol l(-1) in maturing adults, but lower than 1.0 nmol l(-1) in immature fish. The increase in the activity of the PG-axis components had already initiated in the maturing adults while they were still in the Gulf of Alaska in winter. In the homing adults, the pituitary contents and the plasma levels of gonadotropins and plasma sex steroid hormones peaked during upstream migration from the coast to the natal hatchery. The present results thus indicate that the seasonal increase in the activity of the PG axis is an important endocrine event that is inseparable from initiation of spawning migration of chum salmon.
PubMed ID
19088211 View in PubMed
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Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease.

https://arctichealth.org/en/permalink/ahliterature185329
Source
Tissue Antigens. 2003 Apr;61(4):308-16
Publication Type
Article
Date
Apr-2003
Author
E. Bolognesi
K. Karell
S. Percopo
I. Coto
L. Greco
V. Mantovani
E. Suoraniemi
J. Partanen
K. Mustalahti
M. Mäki
P. Momigliano-Richiardi
Author Affiliation
Department of Medical Sciences, Eastern Piedmont University and I.R.C.A.D. (Interdisciplinary Research Center on Autoimmune Diseases), Novara, Italy. bolognes@med.unipmn.it
Source
Tissue Antigens. 2003 Apr;61(4):308-16
Date
Apr-2003
Language
English
Publication Type
Article
Keywords
Celiac Disease - genetics
Finland
Genetic markers
Genetic Predisposition to Disease
HLA-DQ Antigens - genetics
HLA-DR3 Antigen - genetics
Haplotypes
Humans
Italy
Abstract
Although HLA-DQ genes are the major celiac disease (CD) susceptibility genes, results from Finnish families suggest that not all DQ2-encoding haplotypes confer equal susceptibility to CD, implying the effect of other gene(s) in the HLA region. The aim of the present work was to extend and confirm the aforementioned results in a southern European population ( Italian) and to better localize the additional risk factor/s. The association of nine loci spanning the HLA region from DR to HFE, 4.5-Mb telomeric of HLA-A, was tested. The analysis was performed by comparing marker frequencies in DR3-DQ2 haplotypes transmitted and non-transmitted to the affected offspring in 156 Italian CD families selected for having at least one DR3-positive parent. The same analysis was performed independently in 101 Finnish CD families selected with the same criteria. Three alleles, MICA-A5.1, MICB-CA24 and MIB-350, all characteristic of the B8-DR3 extended haplotype, showed a significantly increased frequency in DR3 transmitted haplotypes in the Italian families. DR3 haplotypes carrying the combination of these alleles conferred an approximate fourfold increased CD risk. B8-DR3 transmitted haplotypes were significantly more conserved telomerically down to the MIC-Class I region. Similar results were seen in the Finnish families. The major conclusion that holds true in both populations is that, while DQ2 is an absolute requirement for the development of CD, the presence of an additional genetic factor within the MIC-Class I region confers an approximate 4-fold increased risk of the disease.
PubMed ID
12753669 View in PubMed
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Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome.

https://arctichealth.org/en/permalink/ahliterature90739
Source
Genes Immun. 2009 Jan;10(1):68-76
Publication Type
Article
Date
Jan-2009
Author
Nordmark G.
Kristjansdottir G.
Theander E.
Eriksson P.
Brun J G
Wang C.
Padyukov L.
Truedsson L.
Alm G.
Eloranta M-L
Jonsson R.
Rönnblom L.
Syvänen A-C
Author Affiliation
Section of Rheumatology, Uppsala University, Uppsala, Sweden. Gunnel.Nordmark@medsci.uu.se
Source
Genes Immun. 2009 Jan;10(1):68-76
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Asian Continental Ancestry Group - genetics - statistics & numerical data
Case-Control Studies
Cohort Studies
Confidence Intervals
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Gene Frequency
Haplotypes
Heterozygote
Humans
Interferon Regulatory Factors - genetics - immunology
Linear Models
Linkage Disequilibrium
Male
Middle Aged
Norway
Odds Ratio
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Probability
Risk factors
STAT4 Transcription Factor - genetics - immunology
Sjogren's Syndrome - genetics - immunology
Sweden
Abstract
Primary Sj?gren's syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-bp CGGGG indel in the promoter of IRF5, the single nucleotide polymorphism (SNP) rs10488631 downstream of IRF5 and the STAT4 SNP rs7582694, which tags the major risk haplotype of STAT4. We observed strong signals for association between all three polymorphisms and primary SS, with odds ratios (ORs) >1.4 and P-values
PubMed ID
19092842 View in PubMed
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1151 records – page 1 of 116.