Article
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Nature genetics - 1 Apr 2014
Flannick Jason, Thorleifsson Gudmar, Beer Nicola L, Jacobs Suzanne B R, Grarup Niels, Burtt Noël P, Mahajan Anubha, Fuchsberger Christian, Atzmon Gil, Benediktsson Rafn, Blangero John, Bowden Don W, Brandslund Ivan, Brosnan Julia, Burslem Frank, Chambers John, Cho Yoon Shin, Christensen Cramer, Douglas Desirée A, Duggirala Ravindranath, Dymek Zachary, Farjoun Yossi, Fennell Timothy, Fontanillas Pierre, Forsén Tom, Gabriel Stacey, Glaser Benjamin, Gudbjartsson Daniel F, Hanis Craig, Hansen Torben, Hreidarsson Astradur B, Hveem Kristian, Ingelsson Erik, Isomaa Bo, Johansson Stefan, Jørgensen Torben, Jørgensen Marit Eika, Kathiresan Sekar, Kong Augustine, Kooner Jaspal, Kravic Jasmina, Laakso Markku, Lee Jong-Young, Lind Lars, Lindgren Cecilia M, Linneberg Allan, Masson Gisli, Meitinger Thomas, Mohlke Karen L, Molven Anders, Morris Andrew P, Potluri Shobha, Rauramaa Rainer, Ribel-Madsen Rasmus, Richard Ann-Marie, Rolph Tim, Salomaa Veikko, Segrè Ayellet V, Skärstrand Hanna, Steinthorsdottir Valgerdur, Stringham Heather M, Sulem Patrick, Tai E Shyong, Teo Yik Ying, Teslovich Tanya, Thorsteinsdottir Unnur, Trimmer Jeff K, Tuomi Tiinamaija, Tuomilehto Jaakko, Vaziri-Sani Fariba, Voight Benjamin F, Wilson James G, Boehnke Michael, McCarthy Mark I, Njølstad Pål R, Pedersen Oluf, Groop Leif, Cox David R, Stefansson Kari, Altshuler David
Abstract excerpt
Loss-of-function mutations protective against human disease provide in vivo validation of therapeutic targets, but none have yet been described for type 2 diabetes (T2D). Through sequencing or genotyping of ~150,000 individuals across 5 ancestry groups, we identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated...
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