PMID- 25370040
OWN - NLM
STAT- MEDLINE
DCOM- 20160428
LR  - 20220129
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 23
IP  - 8
DP  - 2015 Aug
TI  - Novel genomic signals of recent selection in an Ethiopian population.
PG  - 1085-92
LID - 10.1038/ejhg.2014.233 [doi]
AB  - 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.
FAU - Tekola-Ayele, Fasil
AU  - Tekola-Ayele F
AD  - Center for Research on Genomics and Global Health, National Human Genome Research 
      Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Adeyemo, Adebowale
AU  - Adeyemo A
AD  - Center for Research on Genomics and Global Health, National Human Genome Research 
      Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Chen, Guanjie
AU  - Chen G
AD  - Center for Research on Genomics and Global Health, National Human Genome Research 
      Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Hailu, Elena
AU  - Hailu E
AD  - Armauer Hansen Research Institute, Addis Ababa, Ethiopia.
FAU - Aseffa, Abraham
AU  - Aseffa A
AUID- ORCID: 0000000280281150
AD  - Armauer Hansen Research Institute, Addis Ababa, Ethiopia.
FAU - Davey, Gail
AU  - Davey G
AUID- ORCID: 0000000327967468
AD  - Brighton and Sussex Medical School, Falmer, Brighton, UK.
FAU - Newport, Melanie J
AU  - Newport MJ
AD  - Brighton and Sussex Medical School, Falmer, Brighton, UK.
FAU - Rotimi, Charles N
AU  - Rotimi CN
AUID- ORCID: 000000015759053X
AD  - Center for Research on Genomics and Global Health, National Human Genome Research 
      Institute, National Institutes of Health, Bethesda, MD, USA.
LA  - eng
GR  - P20 MD006899/MD/NIMHD NIH HHS/United States
GR  - 079791/Wellcome Trust/United Kingdom
GR  - 100715/Wellcome Trust/United Kingdom
GR  - MR/J008621/1/MRC_/Medical Research Council/United Kingdom
GR  - Wellcome Trust/United Kingdom
GR  - D43 TW009127/TW/FIC NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20141105
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Antiporters)
RN  - 0 (Cell Adhesion Molecules, Neuronal)
RN  - 0 (GPI-Linked Proteins)
RN  - 0 (HLA-A Antigens)
RN  - 0 (NEGR1 protein, human)
RN  - 0 (PPAR alpha)
RN  - 0 (SLC24A5 protein, human)
RN  - EC 2.1.1.- (tRNA Methyltransferases)
RN  - EC 2.7.11.1 (Cyclin-Dependent Kinase 5)
RN  - EC 2.8.4.5 (CDKAL1 protein, human)
SB  - IM
MH  - Antiporters/*genetics
MH  - Cell Adhesion Molecules, Neuronal/*genetics
MH  - Cyclin-Dependent Kinase 5/*genetics
MH  - Elephantiasis/*genetics/metabolism/physiopathology
MH  - Energy Metabolism/genetics
MH  - Ethiopia
MH  - Female
MH  - GPI-Linked Proteins/genetics
MH  - Genetics, Population
MH  - Genome, Human
MH  - Genome-Wide Association Study
MH  - HLA-A Antigens/genetics
MH  - HapMap Project
MH  - Humans
MH  - Male
MH  - Obesity/genetics/pathology
MH  - PPAR alpha/*genetics
MH  - Polymorphism, Single Nucleotide
MH  - *Selection, Genetic
MH  - Skin Pigmentation/genetics
MH  - tRNA Methyltransferases
PMC - PMC4351897
MID - EMS60526
OID - NLM: EMS60526
EDAT- 2014/11/06 06:00
MHDA- 2016/04/29 06:00
PMCR- 2016/08/01
CRDT- 2014/11/06 06:00
PHST- 2014/01/21 00:00 [received]
PHST- 2014/09/17 00:00 [revised]
PHST- 2014/09/26 00:00 [accepted]
PHST- 2014/11/06 06:00 [entrez]
PHST- 2014/11/06 06:00 [pubmed]
PHST- 2016/04/29 06:00 [medline]
PHST- 2016/08/01 00:00 [pmc-release]
AID - ejhg2014233 [pii]
AID - 10.1038/ejhg.2014.233 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2015 Aug;23(8):1085-92. doi: 10.1038/ejhg.2014.233. Epub 2014 
      Nov 5.