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Variant in PNPLA3 is associated with alcoholic liver disease

Nature Genetics volume 42, pages 21–23 (2010)Cite this article

Abstract

Two genome-wide association studies (GWAS) have described associations of variants in PNPLA3 with nonalcoholic fatty liver and plasma liver enzyme levels. We investigated the contributions of these variants to liver disease in Mestizo subjects with a history of alcohol dependence. We found that rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted OR= 2.25, P=1.7 × 10−10; ancestry-adjusted OR=1.79, P=1.9 × 10−5).

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References

  1. Yoon, Y.H. & Yi, H.Y. Surveillance Report #83: Liver cirrhosis mortality in the United States, 1970–2005. (National Institute on Alcohol Abuse and Alcoholism, Arlington, Virginia, USA, 2008).

  2. Flores, Y.N. et al. Am. J. Gastroenterol. 103, 2231–2238 (2008).

    Google Scholar 

  3. Mann, R.E., Smart, R.G. & Govoni, R. Alcohol Res. Health 27, 209–219 (2003).

    Google Scholar 

  4. Romeo, S. et al. Nat. Genet. 40, 1461–1465 (2008).

    Google Scholar 

  5. Yuan, X. et al. Am. J. Hum. Genet. 83, 520–528 (2008).

    Google Scholar 

  6. Kotronen, A. et al. Diabetologia 52, 1056–1060 (2009).

    Google Scholar 

  7. Kollerits, B. et al. J. Med. Genet. published online doi:10.1136/jmg.2009.066597 (18 June 2009).

  8. Hinds, D.A. et al. Am. J. Hum. Genet. 74, 317–325 (2004).

    Google Scholar 

  9. Tian, C. et al. Am. J. Hum. Genet. 80, 1014–1023 (2007).

    Google Scholar 

  10. Huang, H. et al. Hepatology 46, 297–306 (2007).

    Google Scholar 

  11. Pugh, R.N., Murray-lyon, I. & Dawson, J. Br. J. Surg. 60, 646–649 (1973).

    Google Scholar 

  12. Jenkins, C.M. et al. J. Biol. Chem. 279, 48968–48975 (2004).

    Google Scholar 

  13. Baulande, S., Lasnier, F., Lucas, M. & Pairault, J. J. Biol. Chem. 276, 33336–33344 (2001).

    Google Scholar 

  14. Sozio, M. & Crabb, D.W. Am. J. Physiol. Endocrinol. Metab. 295, E10–E16 (2008).

    Google Scholar 

  15. Hoyumpa, A. et al. Hepatology 42 S1, 442A (2005).

    Google Scholar 

Download references

Acknowledgements

We thank the individual participants in the study who made this work possible; D. Cox, N. Patil, N. Shen and C. Hacker for their work to obtain and characterize the samples; E. Beasley and M. Mealiffe for guidance; and E. Beilharz, T. Genschoreck, M. Kelleher, M. Kennemer, A. Ollmann, K. Pant and S. Pitts for technical assistance.

Author information

Authors and Affiliations

  1. Perlegen Sciences, Mountain View, California, USA

    Chao Tian, Renee P Stokowski, Dennis G Ballinger & David A Hinds

  2. Departamento de Medicina Experimental, Facultad de Medicina de la Universidad Nacional Autónoma de México, Mexico City, Mexico

    David Kershenobich

  3. Complete Genomics,

    Dennis G Ballinger

  4. Mountain View, California, USA

    Dennis G Ballinger

Authors
  1. Chao Tian
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  2. Renee P Stokowski
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  3. David Kershenobich
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  4. Dennis G Ballinger
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  5. David A Hinds
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Contributions

D.G.B. participated in the conception and design of the study. D.K. provided the samples used in the study. R.P.S. directed the genotyping experiments. D.A.H. and C.T. analyzed the data and drafted the manuscript. All authors contributed to the final manuscript.

Corresponding author

Correspondence to David A Hinds.

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Competing interests

C.T, R.P.S., D.G.B. and D.A.H. were employees of Perlegen Sciences during this work. A provisional patent application has been filed by Perlegen Sciences that includes material presented in this publication.

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Supplementary Methods, Supplementary Note, Supplementary Tables 1–4 and Supplementary Figures 1–5 (PDF 1089 kb)

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Tian, C., Stokowski, R., Kershenobich, D. et al. Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet 42, 21–23 (2010). https://doi.org/10.1038/ng.488

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