Human Genetics

, Volume 132, Issue 2, pp 201–217 | Cite as

Positive natural selection of TRIB2, a novel gene that influences visceral fat accumulation, in East Asia

  • Kazuhiro Nakayama
  • Ayumi Ogawa
  • Hiroshi Miyashita
  • Yasuharu Tabara
  • Michiya Igase
  • Katsuhiko Kohara
  • Tetsuro Miki
  • Yasuo Kagawa
  • Yoshiko Yanagisawa
  • Mitsuhiro Katashima
  • Tomohiro Onda
  • Koichi Okada
  • Shogo Fukushima
  • Sadahiko Iwamoto
Original Investigation

Abstract

Accumulation of visceral fat increases cardiovascular mortality in industrialized societies. However, during the evolution of the modern human, visceral fat may have acted as energy storage facility to survive in times of famine. Therefore, past natural selection might contribute to shaping the variation of visceral fat accumulation in present populations. Here, we report that the gene encoding tribbles homolog 2 (TRIB2) influenced visceral fat accumulation and was operated by recent positive natural selection in East Asians. Our candidate gene association analysis on 11 metabolic traits of 5,810 East Asians revealed that rs1057001, a T/A transversion polymorphism in 3′untranslated region (UTR) of TRIB2, was strongly associated with visceral fat area (VFA) and waist circumference adjusted for body mass index (P = 2.7 × 10−6 and P = 9.0 × 10−6, respectively). rs1057001 was in absolute linkage disequilibrium with a conserved insertion-deletion polymorphism in the 3′UTR and was associated with allelic imbalance of TRIB2 transcript levels in adipose tissues. rs1057001 showed high degree of interpopulation variation of the allele frequency; the low-VFA-associated A allele was found with high frequencies in East Asians. Haplotypes containing the rs1057001 A allele exhibited a signature of a selective sweep, which may have occurred 16,546–27,827 years ago in East Asians. Given the predominance of the thrifty gene hypothesis, it is surprising that the apparently non-thrifty allele was selectively favored in the evolution of modern humans. Environmental/physiological factors other than famine would be needed to explain the non-neutral evolution of TRIB2 in East Asians.

Supplementary material

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Supplementary material 1 (PDF 477 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Kazuhiro Nakayama
    • 1
  • Ayumi Ogawa
    • 1
  • Hiroshi Miyashita
    • 2
  • Yasuharu Tabara
    • 3
  • Michiya Igase
    • 4
  • Katsuhiko Kohara
    • 4
  • Tetsuro Miki
    • 4
  • Yasuo Kagawa
    • 5
  • Yoshiko Yanagisawa
    • 1
    • 6
  • Mitsuhiro Katashima
    • 6
  • Tomohiro Onda
    • 7
  • Koichi Okada
    • 8
  • Shogo Fukushima
    • 9
  • Sadahiko Iwamoto
    • 1
  1. 1.Division of Human Genetics, Center for Molecular MedicineJichi Medical UniversityShimotsukeJapan
  2. 2.Jichi Medical University HospitalJichi Medical UniversityShimotsukeJapan
  3. 3.Center for Genomic MedicineKyoto University Graduate School of MedicineKyotoJapan
  4. 4.Department of Geriatric MedicineEhime University Graduate School of MedicineToonJapan
  5. 5.High Technology Research CenterKagawa Nutrition UniversitySakadoJapan
  6. 6.Health Care Food ResearchHuman Health Care Research, Research and Development, Kao CorporationTokyoJapan
  7. 7.Processing Development ResearchResearch and Development, Kao CorporationTokyoJapan
  8. 8.Appliances Company Corporate Engineering DivisionPanasonic CorporationKusatsuJapan
  9. 9.Corporate Research and Development CenterPanasonic Healthcare Co., LtdKodamaJapan

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