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Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A

Overview of attention for article published in BMC Medical Genetics, November 2016
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Title
Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A
Published in
BMC Medical Genetics, November 2016
DOI 10.1186/s12881-016-0341-z
Pubmed ID
Authors

Murray Cadzow, Tony R. Merriman, James Boocock, Nicola Dalbeth, Lisa K. Stamp, Michael A. Black, Peter M. Visscher, Phillip L. Wilcox

Abstract

The gene PPARGC1A, in particular the Gly482Ser variant (rs8192678), had been proposed to be subject to natural selection, particularly in recent progenitors of extant Polynesian populations. Reasons include high levels of population differentiation and increased frequencies of the derived type 2 diabetes (T2D) risk 482Ser allele, and association with body mass index (BMI) in a small Tongan population. However, no direct statistical tests for selection have been applied. Using a range of Polynesian populations (Tongan, Māori, Samoan) we re-examined evidence for association between Gly482Ser with T2D and BMI as well as gout. Using also Asian, European, and African 1000 Genome Project samples a range of statistical tests for selection (F ST, integrated haplotype score (iHS), cross population extended haplotype homozygosity (XP-EHH), Tajima's D and Fay and Wu's H) were conducted on the PPARGC1A locus. No statistically significant evidence for association between Gly482Ser and any of BMI, T2D or gout was found. Population differentiation (F ST) was smallest between Asian and Pacific populations (New Zealand Māori ≤ 0.35, Samoan ≤ 0.20). When compared to European (New Zealand Māori ≤ 0.40, Samoan ≤ 0.25) or African populations (New Zealand Māori ≤ 0.80, Samoan ≤ 0.66) this differentiation was larger. We did not find any strong evidence for departure from neutral evolution at this locus when applying any of the other statistical tests for selection. However, using the same analytical methods, we found evidence for selection in specific populations at previously identified loci, indicating that lack of selection was the most likely explanation for the lack of evidence of selection in PPARGC1A. We conclude that there is no compelling evidence for selection at this locus, and that this gene should not be considered a candidate thrifty gene locus in Pacific populations. High levels of population differentiation at this locus and the reported absence of the derived 482Ser allele in some Melanesian populations, can alternatively be explained by multiple out-of-Africa migrations by ancestral progenitors, and subsequent genetic drift during colonisation of Polynesia. Intermediate 482Ser allele frequencies in extant Western Polynesian populations could therefore be due to recent admixture with Melanesian progenitors.

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Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 3%
Chile 1 3%
Unknown 37 95%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 8 21%
Student > Ph. D. Student 7 18%
Researcher 6 15%
Student > Master 3 8%
Professor > Associate Professor 3 8%
Other 4 10%
Unknown 8 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 21%
Agricultural and Biological Sciences 5 13%
Social Sciences 4 10%
Medicine and Dentistry 4 10%
Pharmacology, Toxicology and Pharmaceutical Science 2 5%
Other 6 15%
Unknown 10 26%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 May 2017.
All research outputs
#8,015,585
of 10,263,476 outputs
Outputs from BMC Medical Genetics
#436
of 659 outputs
Outputs of similar age
#218,582
of 315,590 outputs
Outputs of similar age from BMC Medical Genetics
#10
of 18 outputs
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