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Among-year variation in selection during early life stages and the genetic basis of fitness in Arabidopsis thaliana.

https://arctichealth.org/en/permalink/ahliterature300370
Source
Mol Ecol. 2018 06; 27(11):2498-2511
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Date
06-2018
Author
Froukje M Postma
Jon Ågren
Author Affiliation
Department of Plant Ecology and Evolution, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden.
Source
Mol Ecol. 2018 06; 27(11):2498-2511
Date
06-2018
Language
English
Publication Type
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adaptation, Physiological - genetics
Arabidopsis - genetics
Genetic Fitness - genetics
Genetic Variation - genetics
Genotype
Germination - genetics
Italy
Phenotype
Quantitative Trait Loci - genetics
Seedlings - genetics
Selection, Genetic - genetics
Sweden
Abstract
Incomplete information regarding both selection regimes and the genetic basis of fitness limits our understanding of adaptive evolution. Among-year variation in the genetic basis of fitness is rarely quantified, and estimates of selection are typically based on single components of fitness, thus potentially missing conflicting selection acting during other life-history stages. Here, we examined among-year variation in selection on a key life-history trait and the genetic basis of fitness covering the whole life cycle in the annual plant Arabidopsis thaliana. We planted freshly matured seeds of >200 recombinant inbred lines (RILs) derived from a cross between two locally adapted populations (Italy and Sweden), and both parental genotypes at the native site of the Swedish population in three consecutive years. We quantified selection against the nonlocal Italian genotype, mapped quantitative trait loci (QTL) for fitness and its components, and quantified selection on timing of germination during different life stages. In all 3 years, the local Swedish genotype outperformed the nonlocal Italian genotype. However, both the contribution of early life stages to relative fitness, and the effects of fitness QTL varied among years. Timing of germination was under conflicting selection through seedling establishment vs. adult survival and fecundity, and both the direction and magnitude of net selection varied among years. Our results demonstrate that selection during early life stages and the genetic basis of fitness can vary markedly among years, emphasizing the need for multiyear studies considering the whole life cycle for a full understanding of natural selection and mechanisms maintaining local adaptation.
PubMed ID
29676059 View in PubMed
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An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

https://arctichealth.org/en/permalink/ahliterature307957
Source
Acta Neuropathol Commun. 2019 11 27; 7(1):188
Publication Type
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Date
11-27-2019
Author
Christina Sundal
Susana Carmona
Maria Yhr
Odd Almström
Maria Ljungberg
John Hardy
Carola Hedberg-Oldfors
Åsa Fred
José Brás
Anders Oldfors
Oluf Andersen
Rita Guerreiro
Author Affiliation
Department of Clinical Neurology, Institute of Neuroscience and Physiology, the Sahlgrenska Academy, University of Gothenburg, Gröna Stråket 11, 3rd floor, Sahlgrenska University Hospital, 413 45, Göteborg, Sweden.
Source
Acta Neuropathol Commun. 2019 11 27; 7(1):188
Date
11-27-2019
Language
English
Publication Type
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adult
Alanine-tRNA Ligase - genetics
Amino Acid Sequence
Female
Genetic Variation - genetics
Humans
Leukoencephalopathies - diagnosis - genetics
Male
Middle Aged
Pedigree
Sweden
Whole Exome Sequencing - methods
Abstract
Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described in a large family with a dominant inheritance pattern. The initial stage of the disease is dominated by frontal lobe symptoms that develop into a rapidly advancing encephalopathy with pyramidal, deep sensory, extrapyramidal and optic tract symptoms. Median survival is less than 10?years. Recently, pathogenic mutations in CSF1R were reported in a clinically and histologically similar leukoencephalopathy segregating in several families. Still, the cause of HDLS-S remained elusive since its initial description in 1984, with no CSF1R mutations identified in the family. Here we update the original findings associated with HDLS-S after a systematic and recent assessment of several family members. We also report the results from exome sequencing analyses indicating the p.Cys152Phe variant in the alanyl tRNA synthetase (AARS) gene as the probable cause of this disease. The variant affects an amino acid located in the aminoacylation domain of the protein and does not cause differences in splicing or expression in the brain. Brain pathology in one case after 10?years of disease duration showed the end stage of the disease to be characterized by widespread liquefaction of the white matter leaving only some macrophages and glial cells behind the centrifugally progressing front. These results point to AARS as a candidate gene for rapidly progressing adult-onset CSF1R-negative leukoencephalopathies.
PubMed ID
31775912 View in PubMed
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Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

https://arctichealth.org/en/permalink/ahliterature256709
Source
Epilepsia. 2014 Aug;55(8):e89-93
Publication Type
Article
Date
Aug-2014
Author
Eva M Reinthaler
Dennis Lal
Wiktor Jurkowski
Martha Feucht
Hannelore Steinböck
Ursula Gruber-Sedlmayr
Gabriel M Ronen
Julia Geldner
Edda Haberlandt
Birgit Neophytou
Andreas Hahn
Janine Altmüller
Holger Thiele
Mohammad R Toliat
Holger Lerche
Peter Nürnberg
Thomas Sander
Bernd A Neubauer
Fritz Zimprich
Author Affiliation
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Source
Epilepsia. 2014 Aug;55(8):e89-93
Date
Aug-2014
Language
English
Publication Type
Article
Keywords
Austria - epidemiology
Canada - epidemiology
Child
Epilepsy, Rolandic - diagnosis - epidemiology - genetics
Female
Genetic Variation - genetics
Germany - epidemiology
Humans
Male
Nerve Tissue Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Abstract
Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners. We performed next-generation sequencing and single-nucleotide polymorphism (SNP)-array based genotyping to screen for sequence and structural variants. In comparison to European controls we could not detect an enrichment of rare deleterious variants of ELP4, SRPX2, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal SRPX2 gene was detected in two affected individuals (0.81%) and also in controls (0.26%), with some preponderance of male patients. We did not detect an association of SNPs in the ELP4 gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE.
PubMed ID
24995671 View in PubMed
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An HIV type 1 subtype A strain of low genetic diversity continues to spread among injecting drug users in Russia: study of the new local outbreaks in Moscow and Irkutsk.

https://arctichealth.org/en/permalink/ahliterature195993
Source
AIDS Res Hum Retroviruses. 2001 Feb 10;17(3):257-61
Publication Type
Article
Date
Feb-10-2001
Author
A. Bobkov
E. Kazennova
T. Khanina
M. Bobkova
L. Selimova
A. Kravchenko
V. Pokrovsky
J. Weber
Author Affiliation
Laboratory of T-Lymphotropic Viruses, Ivanovsky Institute of Virology, Moscow 123098, Russia. bobkov@cityline.ru
Source
AIDS Res Hum Retroviruses. 2001 Feb 10;17(3):257-61
Date
Feb-10-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Amino Acid Sequence
Disease Outbreaks
Female
Gene Products, gag - genetics
Genetic Variation - genetics
HIV Envelope Protein gp120 - genetics
HIV Infections - epidemiology - virology
HIV-1 - classification - genetics
Humans
Male
Molecular Sequence Data
Moscow - epidemiology
Peptide Fragments - genetics
Russia - epidemiology
Sequence Analysis, DNA
Substance Abuse, Intravenous - complications
Abstract
An explosive epidemic of human immunodeficiency virus type 1 (HIV-1) has been documented among injecting drug users (IDUs) in the former Soviet Union republics. In 1999, the two largest local IDU outbreaks of HIV-1 infection in the Russian Federation were registered in the Moscow and Irkutsk regions, where 13,004 HIV-1 cases were identified (44% of the total number of HIV-1 infections in Russia in 1999). To study the prevailing genetic variants and to estimate the genetic diversity of HIV-1 in these outbreaks, 60 samples from Moscow (n = 36) and from Irkutsk (n = 24) were analyzed using the gag/env heteroduplex mobility assay, and the env gp120 V3 encoding regions obtained from 23 individuals were sequenced. Both virus populations were highly homogeneous (the means of pairwise nucleotide distance were 1.75 +/- 0.83 and 2.35 +/- 1.59 for Irkutsk and Moscow, respectively), and similar to the subtype A viruses obtained earlier from IDUs in the former Soviet Union. The subtype A HIV-1 variant thus dominates in the largest HIV-1 outbreaks among IDUs in the Russian Federation.
PubMed ID
11177409 View in PubMed
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Anthropometric variation in west-central Mexico.

https://arctichealth.org/en/permalink/ahliterature194134
Source
Anthropol Anz. 2001 Jun;59(2):97-111
Publication Type
Article
Date
Jun-2001
Author
A F Christensen
Author Affiliation
Dept. of Sociology, Anthropology, and Criminal Justice, Rutgers University, Camden, NJ, USA.
Source
Anthropol Anz. 2001 Jun;59(2):97-111
Date
Jun-2001
Language
English
Publication Type
Article
Keywords
Anthropometry
Blood Proteins - genetics
Cephalometry
Female
Gene Frequency - genetics
Genetic Variation - genetics
Genetics, Population
Genotype
Humans
Indians, North American - genetics
Male
Mexico
Abstract
Anthropometric data from five indigenous Mexican groups, collected by Carlos and Manuel Basauri in 1933, were reanalyzed and compared with serological and cranial non-metric data. Ten cranial and 14 postcranial measurements were used, both separately and together. Bias-corrected r0 and FST values were slightly higher for the postcranial analysis (0.033) than for the cranial analysis (0.024). Given the degree of linguistic differentiation among the Mexican populations, not to mention the different histories of the communities sampled, this result is surprisingly low. The two groups which were closest linguistically and geographically, the Cora and Huichol, were also close biologically. The other three groups, Tarascan, Aztecan, and Otomi, were not closely related to each other or to the Cora-Huichol pair. More interesting than the relationship between populations in this case are those within them. The Aztecas of Tuxpan, Jalisco, exhibit high rii values and lower-than-expected phenotypic variance, suggesting the pronounced action of genetic drift. The Otomi of Ixmiquilpan and Cora of the Sierra de Nayarit, despite their very different histories, both exhibit low rii values and higher-than-expected phenotypic variance, indicating a high level of gene flow. Despite the phenotypic similarities between the Cora and Huichol, their residual variance is very different; this mirrors serological investigations of relative admixture. Over all, recent population history, and especially non-indigenous admixture, are at least as explicative of the observed biological variation as historical linguistic ties are.
PubMed ID
11441457 View in PubMed
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The association of ADH and ALDH gene variants with alcohol drinking habits and cardiovascular disease risk factors.

https://arctichealth.org/en/permalink/ahliterature92098
Source
Alcohol Clin Exp Res. 2008 Nov;32(11):1984-91
Publication Type
Article
Date
Nov-2008
Author
Husemoen Lise Lotte Nystrup
Fenger Mogens
Friedrich Nele
Tolstrup Janne Schurmann
Beenfeldt Fredriksen Stine
Linneberg Allan
Author Affiliation
Research Centre for Prevention and Health, Glostrup Hospital, Glostrup, Denmark. lloh@glo.regionh.dk
Source
Alcohol Clin Exp Res. 2008 Nov;32(11):1984-91
Date
Nov-2008
Language
English
Publication Type
Article
Keywords
Adult
Alcohol Dehydrogenase - genetics
Alcohol Drinking - genetics - metabolism
Aldehyde Dehydrogenase - genetics
Blood Pressure - genetics
Cardiovascular Diseases - epidemiology - genetics - metabolism
Case-Control Studies
Denmark
Ethanol - metabolism
European Continental Ancestry Group - genetics
Female
Genetic Variation - genetics
Habits
Health Surveys
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide - genetics
Risk factors
Abstract
BACKGROUND: Genetic variation in ethanol metabolism may have an influence on both alcohol drinking habits and the susceptibility to health effects of alcohol drinking. Such influences are likely to bias exposure-disease associations in epidemiologic studies of health effects of alcohol drinking. In a Caucasian population, we examined the association of alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) genetic variants with alcohol drinking habits, biomarkers of alcohol exposure, and risk factors for cardiovascular disease. METHODS: The study population consisted of 1,216 Danish men and women aged 15-77 years participating in a health examination in 1998. The health examination included a self-administered questionnaire (alcohol drinking habits), a physical examination (blood pressure), and various blood tests [alanine aminotransferase (ALAT), erythrocyte mean corpuscular volume (E-MCV), and lipids]. ADH and ALDH gene variants were determined by standard techniques. Data were analyzed by regression analyses adjusted for relevant confounders. RESULTS: Self-reported alcohol drinking was significantly associated with increasing levels of ALAT, E-MCV, high-density lipoprotein cholesterol, and blood pressure. The ALDH1b ala69val variant was associated with nondrinking and total alcohol intake. The ALDH2 promoter variant was associated with binge-drinking, and the ALDH1b1 ala69val polymorphism was associated with diastolic blood pressure. We did not find any statistically significant interactions between any of the gene variants and alcohol consumption in relation to the various outcomes. CONCLUSIONS: In this Caucasian population sample, we found evidence to support that genetic variation in ethanol metabolism may influence drinking habits, but no statistically significant gene-environment interactions. More large-scale epidemiologic studies are needed to confirm theses results and to further investigate genetic susceptibility to the effects of alcohol drinking.
PubMed ID
18782342 View in PubMed
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Association of ADIPOR2 gene variants with cardiovascular disease and type 2 diabetes risk in individuals with impaired glucose tolerance: the Finnish Diabetes Prevention Study.

https://arctichealth.org/en/permalink/ahliterature131047
Source
Cardiovasc Diabetol. 2011;10:83
Publication Type
Article
Date
2011
Author
Niina Siitonen
Leena Pulkkinen
Jaana Lindström
Marjukka Kolehmainen
Ursula Schwab
Johan G Eriksson
Pirjo Ilanne-Parikka
Sirkka Keinänen-Kiukaanniemi
Jaakko Tuomilehto
Matti Uusitupa
Author Affiliation
Department of Clinical Nutrition and Food and Health Research Centre, Institute of Public Health and Clinical Nutrition, University of Eastern Finland, Kuopio, Finland. niina.siitonen@uef.fi
Source
Cardiovasc Diabetol. 2011;10:83
Date
2011
Language
English
Publication Type
Article
Keywords
Adolescent
Aged
Cardiovascular Diseases - diagnosis - epidemiology - genetics
Child
Child, Preschool
Diabetes Mellitus, Type 2 - diagnosis - epidemiology - genetics
Female
Finland - epidemiology
Follow-Up Studies
Genetic Association Studies - methods
Genetic Variation - genetics
Glucose Intolerance - diagnosis - genetics
Humans
Infant
Male
Middle Aged
Receptors, Adiponectin - genetics
Abstract
Adiponectin is an adipokine with insulin-sensitising and anti-atherogenic effects. Two receptors for adiponectin, ADIPOR1 and ADIPOR2, have been characterized that mediate effects of adiponectin in various tissues. We examined whether genetic variation in ADIPOR2 predicts the development of cardiovascular disease (CVD) and/or Type 2 Diabetes (T2DM) in individuals with impaired glucose tolerance (IGT) participating the Finnish Diabetes Prevention Study (DPS).
CVD morbidity and mortality data were collected during a median follow-up of 10.2 years (range 1-13 years) and conversion from IGT to T2DM was assessed during a median follow-up of 7 years (range 1-11 years). Altogether eight SNPs in the ADIPOR2 locus were genotyped in 484 participants of the DPS. Moreover, the same SNPs were genotyped and the mRNA expression levels of ADIPOR2 were determined in peripheral blood mononuclear cells and subcutaneous adipose tissue samples derived from 56 individuals participating in the Genobin study.
In the DPS population, four SNPs (rs10848554, rs11061937, rs1058322, rs16928751) were associated with CVD risk, and two remained significant (p = 0.014 for rs11061937 and p = 0.020 for rs1058322) when all four were included in the same multi-SNP model. Furthermore, the individuals homozygous for the rare minor alleles of rs11061946 and rs11061973 had increased risk of converting from IGT to T2DM. Allele-specific differences in the mRNA expression levels for the rs1058322 variant were seen in peripheral blood mononuclear cells derived from participants of the Genobin study.
Our results suggest that SNPs in the ADIPOR2 may modify the risk of CVD in individuals with IGT, possibly through alterations in the mRNA expression levels. In addition an independent genetic signal in ADIPOR2 locus may have an impact on the risk of developing T2DM in individuals with IGT.
ClinicalTrials.gov NCT00518167.
Notes
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PubMed ID
21943112 View in PubMed
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Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease.

https://arctichealth.org/en/permalink/ahliterature174580
Source
Neurobiol Aging. 2005 Aug-Sep;26(8):1145-51
Publication Type
Article
Author
R. Rademakers
K. Sleegers
J. Theuns
M. Van den Broeck
S. Bel Kacem
L-G Nilsson
R. Adolfsson
C M van Duijn
C. Van Broeckhoven
M. Cruts
Author Affiliation
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp, Belgium.
Source
Neurobiol Aging. 2005 Aug-Sep;26(8):1145-51
Language
English
Publication Type
Article
Keywords
Aged
Alzheimer Disease - enzymology - genetics
Cyclin-Dependent Kinase 5
Cyclin-Dependent Kinases - genetics
DNA Mutational Analysis
Exons - genetics
Female
Gene Frequency - genetics
Genetic Testing
Genetic Variation - genetics
Genotype
Haplotypes
Humans
Introns - genetics
Male
Middle Aged
Mutation - genetics
Nerve Tissue Proteins - genetics
Netherlands
Sweden
Abstract
Malfunctioning of cyclin-dependent kinase 5 (CDK5) through aberrant proteolytic cleavage of its neuronal activators p35 and p39 is involved in neurodegeneration in Alzheimer's disease (AD) and other neurodegenerative brain diseases. By extensive genetic analysis of the genes encoding CDK5 (CDK5), p35 (CDK5R1) and p39 (CDK5R2), we excluded causal mutations in 70 familial early-onset AD patients. We performed an association study with five informative SNPs in CDK5 in two independent samples of early-onset AD patients and matched control individuals from The Netherlands and northern Sweden. Association was observed with g.149800G>C in intron 5 of CDK5, and a two times increased risk was observed in both patient samples for carriers of the C-allele. Our data are indicative for a role of the CDK5 molecular complex in the genetic etiology of early-onset AD, and suggest that a yet unknown functional variant in CDK5 or in a nearby gene might lead to increased susceptibility for early-onset AD.
PubMed ID
15917097 View in PubMed
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Association of mannose-binding lectin polymorphisms with sepsis and fatal outcome, in patients with systemic inflammatory response syndrome.

https://arctichealth.org/en/permalink/ahliterature183051
Source
J Infect Dis. 2003 Nov 1;188(9):1394-403
Publication Type
Article
Date
Nov-1-2003
Author
Peter Garred
Jens J Strøm
Lars Quist
Ellen Taaning
Hans O Madsen
Author Affiliation
Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Garred@post5.tele.dk.
Source
J Infect Dis. 2003 Nov 1;188(9):1394-403
Date
Nov-1-2003
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Alleles
DNA - chemistry - genetics
Denmark - epidemiology
Female
Genetic Predisposition to Disease
Genetic Variation - genetics
Humans
Male
Mannose-Binding Lectin - genetics
Middle Aged
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Prospective Studies
Sequence Analysis, DNA
Survival Rate
Systemic Inflammatory Response Syndrome - genetics - mortality
Abstract
Genetic factors may predispose critically ill patients to increased risk of developing sepsis. Mannose-binding lectin (MBL) is an important factor in innate immune defense. We investigated whether MBL gene polymorphisms causing low levels of MBL are associated with the development and progression of sepsis in adult patients in intensive care units. In 272 prospectively monitored patients with systemic inflammatory response syndrome, different MBL genotypes were compared, with respect to microbiology, sepsis development, and survival. The presence of MBL variant alleles was associated with the development of sepsis, severe sepsis, and septic shock. An increased risk of fatal outcome was observed in patients carrying variant alleles. These data show that MBL insufficiency plays an important role in the susceptibility of critically ill patients to the development and progression of sepsis and confers a substantial risk of fatal outcome.
PubMed ID
14593599 View in PubMed
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127 records – page 1 of 13.