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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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Adiponectin gene haplotype is associated with preeclampsia.

https://arctichealth.org/en/permalink/ahliterature170183
Source
Genet Test. 2006;10(1):35-9
Publication Type
Article
Date
2006
Author
Tanja Saarela
Mikko Hiltunen
Seppo Helisalmi
Seppo Heinonen
Markku Laakso
Author Affiliation
Department of Obstetrics and Gynaecology, University of Kuopio, Kuopio, Finland.
Source
Genet Test. 2006;10(1):35-9
Date
2006
Language
English
Publication Type
Article
Keywords
Adiponectin - genetics
Adult
Exons - genetics
Female
Finland
Gene Frequency - genetics
Genetic Predisposition to Disease
Haplotypes - genetics
Humans
Introns - genetics
Polymorphism, Single Nucleotide
Pre-Eclampsia - genetics
Pregnancy
Quantitative Trait Loci - genetics
Abstract
We determined whether the polymorphism of the gene encoding adiponectin contributes to susceptibility to preeclampsia. The study involved 133 Finnish women with preeclampsia and 245 healthy control subjects. All women were genotyped for two single nucleotide polymorphisms (SNPs), SNP45 in exon 2 and SNP276 in intron 2, in the adiponectin gene. Chi2 analysis was used to assess genotype and allele frequency differences between the preeclamptic and control groups. In addition, the pair of loci haplotype analysis, using the expectation-maximization (EM) algorithm, was used to examine the estimated haplotype frequencies of the two SNPs, among the two groups. The TT genotype versus the pooled G genotypes in SNP276 was associated with protection against preeclampsia (p = 0.012) at an odds ratio of 0.27 (95% confidence interval [CI]: 0.09-0.80). Also the genotype and allele frequency distributions of SNP276 differed significantly between the preeclampsia group and the control group (p = 0.035 and p = 0.043, respectively). Single-point genotype and allele distributions in SNP45 of the adiponectin gene were not statistically different between the groups. In the haplotype estimation analysis, the pooled G haplotypes versus the TT haplotype were significantly overrepresented in the preeclampsia group (p = 0.042 +/- 0.005). Polymorphisms of the adiponectin gene show a weak, but statistically significant, haplotype association with susceptibility to preeclampsia in Finnish women.
PubMed ID
16545001 View in PubMed
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Affected sib-pair analysis of the contribution of HLA class I and class II loci to development of cervical cancer.

https://arctichealth.org/en/permalink/ahliterature17622
Source
Hum Mol Genet. 2004 Sep 1;13(17):1951-8
Publication Type
Article
Date
Sep-1-2004
Author
Malin Engelmark
Anna Beskow
Jessica Magnusson
Henry Erlich
Ulf Gyllensten
Author Affiliation
Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Sweden.
Source
Hum Mol Genet. 2004 Sep 1;13(17):1951-8
Date
Sep-1-2004
Language
English
Publication Type
Article
Keywords
Cohort Studies
Comparative Study
Female
Gene Frequency
Genes, MHC Class I - genetics
Genes, MHC Class II - genetics
Genetic Predisposition to Disease
Genotype
Haplotypes - genetics
Humans
Research Support, Non-U.S. Gov't
Siblings
Sweden
Uterine Cervical Neoplasms - genetics
Abstract
Cervical cancer is a multifactorial disease and infection by oncogenic human papilloma viruses represents the main environmental risk factor. Only a subset of infections becomes persistent and develops into cancer, implying that genetic susceptibility factors are needed for malignant progression. Here, we use a population-based cohort of affected sib-pairs (ASPs) to examine the role of the human leukocyte antigen (HLA) class I and class II loci in cervical cancer susceptibility. Analysis of 278 ASPs revealed significant excess genetic sharing for all three HLA class II loci studied, DPB1, DQB1 and DRB1, with the strongest evidence for DQB1 and DRB1. No evidence of excess sharing was observed for the HLA class I HLA-B and HLA-A loci. When the material was stratified on the basis of the DQB1*0602/DRB1*1501 susceptibility haplotype, carriers showed significant sharing for all loci, whereas non-carriers showed no evidence of excess genetic sharing at any of the loci. However, for the DPB1 locus there was no difference in allele frequency between carriers and non-carriers indicating that the effect seen in DPB1 is not simply due to linkage disequilibrium. Our results show that the HLA class II represents a major genetic susceptibility locus to cervical cancer in contrary to the class I that do not appear to have a significant impact on predisposition to the disease. The strongest class II effects are coming from the DQB1 and DRB1 loci, but the DPB1 locus also contributes to the susceptibility to cervical cancer.
Notes
Erratum In: Hum Mol Genet. 2006 Jan 15;15(2):375
PubMed ID
15238505 View in PubMed
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Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

https://arctichealth.org/en/permalink/ahliterature210534
Source
Am J Hum Genet. 1996 Dec;59(6):1243-51
Publication Type
Article
Date
Dec-1996
Author
A L Moisio
P. Sistonen
J. Weissenbach
A. de la Chapelle
P. Peltomäki
Author Affiliation
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Source
Am J Hum Genet. 1996 Dec;59(6):1243-51
Date
Dec-1996
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Age of Onset
Chromosome Mapping - methods
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Repair - genetics
DNA, Satellite - genetics
Finland
Genetic markers
Genetics, Population
Haplotypes - genetics
Humans
Linkage Disequilibrium
Middle Aged
Pedigree
Abstract
Two mutations in the DNA mismatch repair gene MLH1, referred to as mutations 1 and 2, are frequent among Finnish kindreds with hereditary nonpolyposis colorectal cancer (HNPCC). In order to assess the ages and origins of these mutations, we constructed a map of 15 microsatellite markers around MLH1 and used this information in haplotype analyses of 19 kindreds with mutation 1 and 6 kindreds with mutation 2. All kindreds with mutation 1 showed a single allele for the intragenic marker D3S1611 that was not observed on any unaffected chromosome. They also shared portions of a haplotype of 4-15 markers encompassing 2.0-19.0 cM around MLH1. All kindreds with mutation 2 shared another allele for D3S1611 and a conserved haplotype of 5-14 markers spanning 2.0-15.0 cM around MLH1. The degree of haplotype conservation was used to estimate the ages of these two mutations. While some recessive disease genes have been estimated to have existed and spread for as long as thousands of generations worldwide and hundreds of generations in the Finnish population, our analyses suggest that the spread of mutation 1 started 16-43 generations (400-1,075 years) ago and that of mutation 2 some 5-21 generations (125-525 years) ago. These datings are compatible with our genealogical results identifying a common ancestor born in the 16th and 18th century, respectively. Overall, our results indicate that all Finnish kindreds studied to date showing either mutation 1 or mutation 2 are due to single ancestral founding mutations relatively recent in origin in the population. Alternatively, the mutations arose elsewhere earlier and were introduced in Finland more recently.
Notes
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PubMed ID
8940269 View in PubMed
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Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map.

https://arctichealth.org/en/permalink/ahliterature195078
Source
Hum Mutat. 2001 Apr;17(4):255-62
Publication Type
Article
Date
Apr-2001
Author
A. Collins
S. Ennis
P. Taillon-Miller
P Y Kwok
N E Morton
Author Affiliation
Human Genetics Research Division, University of Southampton, Southampton, UK.
Source
Hum Mutat. 2001 Apr;17(4):255-62
Date
Apr-2001
Language
English
Publication Type
Article
Keywords
Alleles
Chromosome Mapping
Finland
Gene Frequency - genetics
HLA Antigens - genetics
Haplotypes - genetics
Histocompatibility Antigens Class I - genetics
Humans
Likelihood Functions
Linkage Disequilibrium - genetics
Membrane Proteins
Models, Genetic
Molecular Sequence Data
Polymorphism, Single Nucleotide - genetics
Recombination, Genetic - genetics
X Chromosome - genetics
Abstract
Comparison of different metrics, using three large samples of haplotypes from different populations, demonstrates that rho is the most efficient measure of association between pairs of single nucleotide polymorphisms (SNPs). Pairwise data can be modeled, using composite likelihood, to describe the decline in linkage disequilibrium with distance (the Malecot model). The evidence from more isolated populations (Finland, Sardinia) suggests that linkage disequilibrium extends to 427-893 kb but, even in samples representative of large heterogeneous populations, such as CEPH, the extent is 385 kb or greater. This suggests that isolated populations are not essential for linkage disequilibrium mapping of common diseases with SNPs. The in parameter of the Malecot model (recombination and time), evaluated at each SNP, indicates regions of the genome with extensive and less extensive disequilibrium (low and high values of in respectively). When plotted against the physical map, the regions with extensive and less extensive linkage disequilibrium may correspond to recombination cold and hot spots. This is discussed in relation to the Xq25 cytogenetic band and the HFE gene region.
PubMed ID
11295822 View in PubMed
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American Indian prehistory as written in the mitochondrial DNA: a review.

https://arctichealth.org/en/permalink/ahliterature223740
Source
Hum Biol. 1992 Jun;64(3):403-16
Publication Type
Article
Date
Jun-1992
Author
D C Wallace
A. Torroni
Author Affiliation
Center for Genetics and Molecular Medicine, Emory University, Atlanta, GA 30322.
Source
Hum Biol. 1992 Jun;64(3):403-16
Date
Jun-1992
Language
English
Publication Type
Article
Keywords
Asia - ethnology
DNA, Mitochondrial - genetics
Emigration and Immigration - history
Genetic Markers - genetics
Genetic Variation
Haplotypes - genetics
History, Ancient
Humans
Indians, Central American - genetics - history
Indians, North American - genetics - history
Indians, South American - genetics - history
Polymorphism, Restriction Fragment Length
Abstract
Native Americans have been divided into three linguistic groups: the reasonably well-defined Eskaleut and Nadene of northern North America and the highly heterogeneous Amerind of North, Central, and South America. The heterogeneity of the Amerinds has been proposed to be the result of either multiple independent migrations or a single ancient migration with extensive in situ radiation. To investigate the origin and interrelationship of the American Indians, we examined the mitochondrial DNA (mtDNA) variation in 87 Amerinds (Pima, Maya, and Ticuna of North, Central, and South America, respectively), 80 Nadene (Dogrib and Tlingit of northwest North America and Navajo of the southwest North America), and 153 Asians from 7 diverse populations. American Indian mtDNAs were found to be directly descended from five founding Asian mtDNAs and to cluster into four lineages, each characterized by a different rare Asian mtDNA marker. Lineage A is defined by a HaeIII site gain at np 663, lineage B by a 9-bp deletion between the COII and tRNA(Lys) genes, lineage C by a HincII site loss at np 13259, and lineage D by an AluI site loss at np 5176. The North, Central, and South America Amerinds were found to harbor all four lineages, demonstrating that the Amerinds originated from a common ancestral genetic stock. The genetic variation of three of the four Amerind lineages (A, C, and D) was similar with a mean value of 0.084%, whereas the sequence variation in the fourth lineage (B) was much lower, raising the possibility of an independent arrival. By contrast, the Nadene mtDNAs were predominantly from lineage A, with 27% of them having a Nadene-specific RsaI site loss at np 16329. The accumulated Nadene variation was only 0.021%. These results demonstrate that the Amerind mtDNAs arose from one or maybe two Asian migrations that were distinct from the migration of the Nadene and that the Amerind populations are about four times older than the Nadene.
Notes
Comment In: Hum Biol. 1992 Jun;64(3):271-91607180
PubMed ID
1351474 View in PubMed
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Analysis of 5-hydroxytryptamine 2c receptor gene promoter variants as alcohol-dependence risk factors.

https://arctichealth.org/en/permalink/ahliterature9417
Source
Alcohol Alcohol. 2004 Sep-Oct;39(5):380-5
Publication Type
Article
Author
Salim Mottagui-Tabar
Shane McCarthy
Jana Reinemund
Björn Andersson
Claes Wahlestedt
Markus Heilig
Author Affiliation
Center for Genomics and Bioinformatics, Karolinska Institutet, Stockholm, Sweden.
Source
Alcohol Alcohol. 2004 Sep-Oct;39(5):380-5
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alcoholism - diagnosis - ethnology - genetics
DNA - blood
DNA Primers - genetics
Diagnostic and Statistical Manual of Mental Disorders
Female
Gene Frequency - genetics
Genotype
Haplotypes - genetics
Humans
Male
Middle Aged
Minisatellite Repeats - genetics
Polymorphism, Genetic - genetics
Promoter Regions (Genetics) - genetics
Receptor, Serotonin, 5-HT2C - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sex Distribution
Abstract
AIMS: To examine whether polymorphic variants of the HTR2C gene are associated with diagnosis of alcohol dependence. METHODS: We compared allele frequencies of five HTR2C promoter polymorphisms in a Nordic population of alcohol dependent individuals (Males: n = 309; Females: n = 127) and ethnically matched controls (Males: n = 83; Females: n = 190) in whom alcohol dependence was established, or any diagnosis of substance disorder was excluded, respectively. Patients were further subtyped into Type I (late onset) and Type II (early onset) alcoholics. RESULTS: None of the individual polymorphisms indicated significant association with alcohol dependence. A common promoter haplotype (GAGG) exhibited different distribution frequencies between males and females (Type I), however on Bonferroni's multiple-testing correction, this observation proved to be insignificant. CONCLUSIONS: Although we report a lack of association between alcohol dependence and five common promoter polymorphisms, and the constituted haplotypes, the analysis tends to indicate gender and sub-type differences. We suggest that a follow up study with larger sample numbers should be performed to improve the power to detect the genetic influences of HTR2C in alcohol dependence.
PubMed ID
15304380 View in PubMed
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Analysis of antibody markers, DRB1, DRB5, DQA1 and DQB1 genes and modeling of DR2 molecules in DR2-positive patients with insulin-dependent diabetes mellitus.

https://arctichealth.org/en/permalink/ahliterature35717
Source
Tissue Antigens. 1994 Aug;44(2):110-9
Publication Type
Article
Date
Aug-1994
Author
C B Sanjeevi
T P Lybrand
M. Landin-Olsson
I. Kockum
G. Dahlquist
W A Hagopian
J P Palmer
A. Lernmark
Author Affiliation
Karolinska Institute, Department of Endocrinology, Karolinska Hospital, Stockholm, Sweden.
Source
Tissue Antigens. 1994 Aug;44(2):110-9
Date
Aug-1994
Language
English
Publication Type
Article
Keywords
Alleles
Animals
Antibodies, Monoclonal - immunology
Base Sequence
Cricetinae
Diabetes Mellitus, Type 1 - genetics - immunology
Disease Susceptibility - immunology
Genes, MHC Class II
Genetic Predisposition to Disease
HLA-DQ Antigens - genetics
HLA-DR Antigens - genetics
HLA-DR2 Antigen - chemistry - genetics
Haplotypes - genetics
Humans
Immunity, Natural - genetics - immunology
Models, Molecular
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Protein Conformation
Recombination, Genetic
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.
Sweden
Abstract
HLA-DR2 is negatively associated with insulin-dependent diabetes mellitus (IDDM). The aim of the present study was to analyze DR2-positive patients among 425 consecutively diagnosed unrelated Swedish children with IDDM and in 367 matched controls. HLA-DRB, -DQA and -DQB were determined by Taq I restriction fragment length polymorphism analysis. Amplification by polymerase chain reaction (PCR) and hybridization with sequence-specific oligonucleotide probes was done for DQA1, DQB1 and DRB1 and DRB5. DR2 was positive in 11/425 patients (3%) and 101/367 (28%) controls (OR 0.07, p
PubMed ID
7817375 View in PubMed
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Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.

https://arctichealth.org/en/permalink/ahliterature173833
Source
Ophthalmic Genet. 2005 Jun;26(2):85-9
Publication Type
Article
Date
Jun-2005
Author
Mattias Jansson
Claes Wadelius
Tayebeh Rezaie
Mansoor Sarfarazi
Author Affiliation
Department of Genetics and Pathology Unit of Medical Genetics, Uppsala University, SE-751 85 Uppsala, Sweden.
Source
Ophthalmic Genet. 2005 Jun;26(2):85-9
Date
Jun-2005
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Case-Control Studies
Cohort Studies
DNA Mutational Analysis
Female
Genetic Variation
Glaucoma, Open-Angle - epidemiology - genetics
Haplotypes - genetics
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide - genetics
Sweden - epidemiology
Transcription Factor TFIIIA - genetics
Abstract
Glaucoma, a leading cause of blindness in the world, is characterized by neuropathy of the retinal ganglion cells and the optic nerve. Recently, sequence alterations in the optineurin gene were shown to be associated with the disease in families with primarily normal tension glaucoma.
In the present study, 200 patients with primary open-angle glaucoma, 200 patients with exfoliative glaucoma, and 200 matched controls were tested for alterations in the coding sequences using denaturing high-performance liquid chromatography and sequencing. In addition, single nucleotide polymorphisms distributed throughout the gene were typed and haplotypes were constructed.
No disease-causing alterations were found in either of the patient cohorts. The risk-associated allele M98K was found in equal amounts in both patients and controls. Analysis of haplotype frequencies and distribution revealed high haplotype diversity but no differences between patients and controls.
These experiments show no association between optineurin and our Swedish cohorts of high-pressure glaucoma cases, either in coding sequence or in haplotype frequency and distribution.
PubMed ID
16020311 View in PubMed
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316 records – page 1 of 32.