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Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations

International Journal of Obesity volume 37, pages 188–190 (2013)Cite this article

Subjects

Abstract

OBJECTIVE:

Genomic copy number variations (CNVs) have been strongly implicated as important genetic factors for obesity. A recent genome-wide association study identified a novel variant, rs12444979, which is in high linkage disequilibrium with CNV 16p12.3, for association with obesity in Europeans. The aim of this study was to directly examine the relationship between the CNV 16p12.3 and obesity phenotypes, including body mass index (BMI) and body fat mass.

SUBJECTS:

Subjects were a multi-ethnic sample, including 2286 unrelated subjects from a European population and 1627 unrelated Han subjects from a Chinese population. Body fat mass was measured using dual energy X-ray absorptiometry.

RESULTS:

Using Affymetrix Genome-Wide Human SNP Array 6.0, we directly detected CNV 16p12.3, with the deletion frequency of 27.26 and 0.8% in the European and Chinese populations, respectively. We confirmed the significant association between this CNV and obesity (BMI: P=1.38 × 10−2; body fat mass: P=2.13 × 10−3) in the European population. Less copy numbers were associated with lower BMI and body fat mass, and the effect size was estimated to be 0.62 (BMI) and 1.41 (body fat mass), respectively. However, for the Chinese population, we did not observe significant association signal, and the frequencies of this deletion CNV are quite different between the European and Chinese populations (P<0.001).

CONCLUSION:

Our findings first suggest that CNV 16p12.3 might be ethnic specific and cause ethnic phenotypic diversity, which may provide some new clues into the understanding of the genetic architecture of obesity.

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Acknowledgements

This work was supported by the National Natural Science Foundation of China (81000363, 31000554), the Grants from NIH (R01 AR050496, R21 AG027110, R01 AG026564, P50 AR055081, R01 AR057049-01A1 and R21 AA015973). The study was also funded by the Fundamental Research Funds for the Central Universities, the PhD Programs Foundation of Ministry of Education of China (20100201120058), Shanghai Leading Academic Discipline Project (S30501), a Grant from Ministry of Education to ShangHai University of Science and Technology, and startup fund from University of Shanghai for Science and Technology, Xi’an Jiaotong University and the Ministry of Education of China. This work was also supported by Dr Hong-Wen Deng’s Dickson/Missouri Endowment at University of Missouri-Kansas City and the Edward G Schlieder Endowment at Tulane University.

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Authors and Affiliations

  1. Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, China

    T-L Yang & Y Guo

  2. School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA

    S M Li & S K Li

  3. School of Public Health and Tropical Medicine, Tulane University, New Orleans, LA, USA

    Q Tian, Y-J Liu & H-W Deng

  4. Center of Systematic Biomedical Research, University of Shanghai for Science and Technology, Shanghai, China

    H-W Deng

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  1. T-L Yang
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Correspondence to H-W Deng.

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Yang, TL., Guo, Y., Li, S. et al. Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations. Int J Obes 37, 188–190 (2013). https://doi.org/10.1038/ijo.2012.31

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