LymphedemaV1, Main, Exploration, bibRecord, 002764

Novel genomic signals of recent selection in an Ethiopian population

Identifieur interne : 002764 ( Main/Exploration ); précédent : 002763; suivant : 002765

Novel genomic signals of recent selection in an Ethiopian population

Auteurs : Fasil Tekola-Ayele [États-Unis] ; Adebowale Adeyemo [États-Unis] ; Guanjie Chen [États-Unis] ; Elena Hailu [Éthiopie] ; Abraham Aseffa [Éthiopie] ; Gail Davey [Royaume-Uni] ; Melanie J. Newport [Royaume-Uni] ; Charles N. Rotimi [États-Unis]

Source :

European Journal of Human Genetics [ 1018-4813 ] ; 2014.

RBID : PMC:4351897

Descripteurs français

KwdFr :
- Antigènes HLA-A (génétique), Antiports (génétique), Femelle, Génome humain, Génétique des populations, Humains, Kinase-5 cycline-dépendante (génétique), Molécules d'adhérence cellulaire neuronale (génétique), Mâle, Métabolisme énergétique (génétique), Obésité (anatomopathologie), Obésité (génétique), Pigmentation de la peau (génétique), Polymorphisme de nucléotide simple, Projet HapMap, Protéines liées au GPI (génétique), Récepteur PPAR alpha (génétique), Sélection génétique, T-RNA methyltransferases, Éléphantiasis (génétique), Éléphantiasis (métabolisme), Éléphantiasis (physiopathologie), Éthiopie, Étude d'association pangénomique.
MESH :
- anatomopathologie : Obésité.
- génétique : Antigènes HLA-A, Antiports, Kinase-5 cycline-dépendante, Molécules d'adhérence cellulaire neuronale, Métabolisme énergétique, Obésité, Pigmentation de la peau, Protéines liées au GPI, Récepteur PPAR alpha, Éléphantiasis.
- métabolisme : Éléphantiasis.
- physiopathologie : Éléphantiasis.
- Femelle, Génome humain, Génétique des populations, Humains, Mâle, Polymorphisme de nucléotide simple, Projet HapMap, Sélection génétique, T-RNA methyltransferases, Éthiopie, Étude d'association pangénomique.

English descriptors

KwdEn :
- Antiporters (genetics), Cell Adhesion Molecules, Neuronal (genetics), Cyclin-Dependent Kinase 5 (genetics), Elephantiasis (genetics), Elephantiasis (metabolism), Elephantiasis (physiopathology), Energy Metabolism (genetics), Ethiopia, Female, GPI-Linked Proteins (genetics), Genetics, Population, Genome, Human, Genome-Wide Association Study, HLA-A Antigens (genetics), HapMap Project, Humans, Male, Obesity (genetics), Obesity (pathology), PPAR alpha (genetics), Polymorphism, Single Nucleotide, Selection, Genetic, Skin Pigmentation (genetics), tRNA Methyltransferases.
MESH :
- chemical , genetics : Antiporters, Cell Adhesion Molecules, Neuronal, Cyclin-Dependent Kinase 5, GPI-Linked Proteins, HLA-A Antigens, PPAR alpha.
- genetics : Elephantiasis, Energy Metabolism, Obesity, Skin Pigmentation.
- metabolism : Elephantiasis.
- pathology : Obesity.
- physiopathology : Elephantiasis.
- Ethiopia, Female, Genetics, Population, Genome, Human, Genome-Wide Association Study, HapMap Project, Humans, Male, Polymorphism, Single Nucleotide, Selection, Genetic, tRNA Methyltransferases.

Abstract

The recent feasibility of genome-wide studies of adaptation in human populations has provided novel insights into biological pathways that have been affected by adaptive pressures. However, only a few African populations have been investigated using these genome-wide approaches. Here, we performed a genome-wide analysis for evidence of recent positive selection in a sample of 120 individuals of Wolaita ethnicity belonging to Omotic-speaking people who have inhabited the mid- and high-land areas of southern Ethiopia for millennia. Using the 11 HapMap populations as the comparison group, we found Wolaita-specific signals of recent positive selection in several human leukocyte antigen (HLA) loci. Notably, the selected loci overlapped with HLA regions that we previously reported to be associated with podoconiosis–a geochemical lymphedema of the lower legs common in the Wolaita area. We found selection signals in PPARA, a gene involved in energy metabolism during prolonged food deficiency. This finding is consistent with the dietary use of enset, a crop with high-carbohydrate and low-fat and -protein contents domesticated in Ethiopia subsequent to food deprivation 10 000 years ago, and with metabolic adaptation to high-altitude hypoxia. We observed novel selection signals in CDKAL1 and NEGR1, well-known diabetes and obesity susceptibility genes. Finally, the SLC24A5 gene locus known to be associated with skin pigmentation was in the top selection signals in the Wolaita, and the alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (SLC24A5) associated with light skin pigmentation in Eurasian populations were of high frequency (47.9%) in this Omotic-speaking indigenous Ethiopian population.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351897

DOI: 10.1038/ejhg.2014.233
PubMed: 25370040
PubMed Central: 4351897

Affiliations:

Royaume-Uni, États-Unis, Éthiopie

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiporters (genetics)</term>
<term>Cell Adhesion Molecules, Neuronal (genetics)</term>
<term>Cyclin-Dependent Kinase 5 (genetics)</term>
<term>Elephantiasis (genetics)</term>
<term>Elephantiasis (metabolism)</term>
<term>Elephantiasis (physiopathology)</term>
<term>Energy Metabolism (genetics)</term>
<term>Ethiopia</term>
<term>Female</term>
<term>GPI-Linked Proteins (genetics)</term>
<term>Genetics, Population</term>
<term>Genome, Human</term>
<term>Genome-Wide Association Study</term>
<term>HLA-A Antigens (genetics)</term>
<term>HapMap Project</term>
<term>Humans</term>
<term>Male</term>
<term>Obesity (genetics)</term>
<term>Obesity (pathology)</term>
<term>PPAR alpha (genetics)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Selection, Genetic</term>
<term>Skin Pigmentation (genetics)</term>
<term>tRNA Methyltransferases</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Antigènes HLA-A (génétique)</term>
<term>Antiports (génétique)</term>
<term>Femelle</term>
<term>Génome humain</term>
<term>Génétique des populations</term>
<term>Humains</term>
<term>Kinase-5 cycline-dépendante (génétique)</term>
<term>Molécules d'adhérence cellulaire neuronale (génétique)</term>
<term>Mâle</term>
<term>Métabolisme énergétique (génétique)</term>
<term>Obésité (anatomopathologie)</term>
<term>Obésité (génétique)</term>
<term>Pigmentation de la peau (génétique)</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Projet HapMap</term>
<term>Protéines liées au GPI (génétique)</term>
<term>Récepteur PPAR alpha (génétique)</term>
<term>Sélection génétique</term>
<term>T-RNA methyltransferases</term>
<term>Éléphantiasis (génétique)</term>
<term>Éléphantiasis (métabolisme)</term>
<term>Éléphantiasis (physiopathologie)</term>
<term>Éthiopie</term>
<term>Étude d'association pangénomique</term>
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<term>Cell Adhesion Molecules, Neuronal</term>
<term>Cyclin-Dependent Kinase 5</term>
<term>GPI-Linked Proteins</term>
<term>HLA-A Antigens</term>
<term>PPAR alpha</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Obésité</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Elephantiasis</term>
<term>Energy Metabolism</term>
<term>Obesity</term>
<term>Skin Pigmentation</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Antigènes HLA-A</term>
<term>Antiports</term>
<term>Kinase-5 cycline-dépendante</term>
<term>Molécules d'adhérence cellulaire neuronale</term>
<term>Métabolisme énergétique</term>
<term>Obésité</term>
<term>Pigmentation de la peau</term>
<term>Protéines liées au GPI</term>
<term>Récepteur PPAR alpha</term>
<term>Éléphantiasis</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Elephantiasis</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Éléphantiasis</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Obesity</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Éléphantiasis</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Elephantiasis</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Ethiopia</term>
<term>Female</term>
<term>Genetics, Population</term>
<term>Genome, Human</term>
<term>Genome-Wide Association Study</term>
<term>HapMap Project</term>
<term>Humans</term>
<term>Male</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Selection, Genetic</term>
<term>tRNA Methyltransferases</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Femelle</term>
<term>Génome humain</term>
<term>Génétique des populations</term>
<term>Humains</term>
<term>Mâle</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Projet HapMap</term>
<term>Sélection génétique</term>
<term>T-RNA methyltransferases</term>
<term>Éthiopie</term>
<term>Étude d'association pangénomique</term>
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<front><div type="abstract" xml:lang="en"><p>The recent feasibility of genome-wide studies of adaptation in human populations has provided novel insights into biological pathways that have been affected by adaptive pressures. However, only a few African populations have been investigated using these genome-wide approaches. Here, we performed a genome-wide analysis for evidence of recent positive selection in a sample of 120 individuals of Wolaita ethnicity belonging to Omotic-speaking people who have inhabited the mid- and high-land areas of southern Ethiopia for millennia. Using the 11 HapMap populations as the comparison group, we found Wolaita-specific signals of recent positive selection in several human leukocyte antigen (HLA) loci. Notably, the selected loci overlapped with HLA regions that we previously reported to be associated with podoconiosis–a geochemical lymphedema of the lower legs common in the Wolaita area. We found selection signals in <italic>PPARA,</italic>
 a gene involved in energy metabolism during prolonged food deficiency. This finding is consistent with the dietary use of <italic>enset</italic>
, a crop with high-carbohydrate and low-fat and -protein contents domesticated in Ethiopia subsequent to food deprivation 10 000 years ago, and with metabolic adaptation to high-altitude hypoxia. We observed novel selection signals in <italic>CDKAL1</italic>
 and <italic>NEGR1</italic>
, well-known diabetes and obesity susceptibility genes. Finally, the <italic>SLC24A5</italic>
 gene locus known to be associated with skin pigmentation was in the top selection signals in the Wolaita, and the alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (<italic>SLC24A5</italic>
) associated with light skin pigmentation in Eurasian populations were of high frequency (47.9%) in this Omotic-speaking indigenous Ethiopian population.</p>
</div>
</front>
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       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

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Serveur d'exploration sur le lymphœdème

Novel genomic signals of recent selection in an Ethiopian population

Novel genomic signals of recent selection in an Ethiopian population

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	Serveur d'exploration sur le lymphœdème
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