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The influence of rare genetic variation in SLC30A8 on diabetes incidence and β-cell function.

  • Billings, Liana K1
  • Jablonski, Kathleen A
  • Ackerman, Rachel J
  • Taylor, Andrew
  • Fanelli, Rebecca R
  • McAteer, Jarred B
  • Guiducci, Candace
  • Delahanty, Linda M
  • Dabelea, Dana
  • Kahn, Steven E
  • Franks, Paul W
  • Hanson, Robert L
  • Maruthur, Nisa M
  • Shuldiner, Alan R
  • Mayer-Davis, Elizabeth J
  • Knowler, William C
  • Florez, Jose C
  • 1 Center for Human Genetic Research (L.K.B., R.J.A., A.T., R.R.F., J.B.M., J.C.F.) and Diabetes Research Center (Diabetes Unit) (L.K.B., L.M.D., J.C.F.), Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114; Department of Medicine (L.K.B., L.M.D., J.C.F.), Harvard Medical School, and Department of Nutrition (P.W.F.), Harvard School of Public Health, Boston, Massachusetts 02115; Department of Medicine (L.K.B.), NorthShore University HealthSystem, Evanston, Illinois 60201; University of Chicago (L.K.B.), Pritzker School of Medicine, Chicago, Illinois 60637; The Biostatistics Center (K.A.J.), George Washington University, Rockville, Maryland 20852; Program in Medical and Population Genetics (A.T., J.B.M., C.G., J.C.F.), Broad Institute, Cambridge, Massachusetts 02142; Department of Epidemiology (D.D.), Colorado School of Public Health, University of Colorado, Denver, Colorado 80045; Division of Metabolism, Endocrinology, and Nutrition (S.E.K.), VA Puget Sound Health Care System and University of Washington, Seattle, Washington 98108; Department of Clinical Sciences (P.W.F.), Genetic and Molecular Epidemiology Unit, Lund University, SE-200 41 Malmö, Sweden; Diabetes Epidemiology and Clinical Research Section (R.L.H., W.C.K.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona 85014; Department of Medicine (N.M.M.), Division of General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205; Department of Medicine (A.R.S.), Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201; and Department of Nutrition (E.J.M.-D.), University of North Carolina, Gillings School of Global Public Health, Chapel Hill, North Carolina 27599. , (Sweden)
Published Article
The Journal of Clinical Endocrinology & Metabolism
The Endocrine Society
Publication Date
May 01, 2014
DOI: 10.1210/jc.2013-2378
PMID: 24471563


Individual common and an aggregate of rare genetic variation in SLC30A8 are associated with measures of β-cell function in the DPP. Exploring rare variation may complement ongoing efforts to uncover the genetic influences that underlie complex diseases.

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