Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

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Fältnamn	Indikatorer	Metadata
000		07229naa a2201321 4500
001		oai:lup.lub.lu.se:04e31993-2f8c-4069-a74a-503f183912ae
003		SwePub
008		160401s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:DiVA.org:uu-225085
024	7	a https://lup.lub.lu.se/record/43841982 URI
024	7	a https://doi.org/10.1038/ng.29152 DOI
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2250852 URI
040		a (SwePub)lud (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Flannick, Jason4 aut
245	1 0	a Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
264		c 2014-03-02
264	1	b Springer Science and Business Media LLC,c 2014
520		a 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 with T2D risk and glucose and proinsulin levels. Collectively, carriers of protein-truncating variants had 65% reduced T2D risk (P = 1.7 × 10(-6)), and non-diabetic Icelandic carriers of a frameshift variant (p.Lys34Serfs50) demonstrated reduced glucose levels (-0.17 s.d., P = 4.6 × 10(-4)). The two most common protein-truncating variants (p.Arg138 and p.Lys34Serfs*50) individually associate with T2D protection and encode unstable ZnT8 proteins. Previous functional study of SLC30A8 suggested that reduced zinc transport increases T2D risk, and phenotypic heterogeneity was observed in mouse Slc30a8 knockouts. In contrast, loss-of-function mutations in humans provide strong evidence that SLC30A8 haploinsufficiency protects against T2D, suggesting ZnT8 inhibition as a therapeutic strategy in T2D prevention.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Thorleifsson, Gudmar4 aut
700	1	a Lind, Larsu Uppsala universitet,Kardiovaskulär epidemiologi4 aut0 (Swepub:uu)larslind
700	1	a Jacobs, Suzanne B R4 aut
700	1	a Grarup, Niels4 aut
700	1	a Burtt, Noël P4 aut
700	1	a Mahajan, Anubha4 aut
700	1	a Fuchsberger, Christian4 aut
700	1	a Atzmon, Gil4 aut
700	1	a Benediktsson, Rafn4 aut
700	1	a Blangero, John4 aut
700	1	a Bowden, Don W4 aut
700	1	a Brandslund, Ivan4 aut
700	1	a Brosnan, Julia4 aut
700	1	a Burslem, Frank4 aut
700	1	a Chambers, John4 aut
700	1	a Cho, Yoon Shin4 aut
700	1	a Christensen, Cramer4 aut
700	1	a Douglas, Desireeu Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Cellpatologi, Malmö,Celiac Disease and Diabetes Unit,Lund University Research Groups,Cell Pathology, Malmö4 aut0 (Swepub:lu)cob-ddo
700	1	a Duggirala, Ravindranath4 aut
700	1	a Dymek, Zachary4 aut
700	1	a Farjoun, Yossi4 aut
700	1	a Fennell, Timothy4 aut
700	1	a Fontanillas, Pierre4 aut
700	1	a Forsén, Tom4 aut
700	1	a Gabriel, Stacey4 aut
700	1	a Glaser, Benjamin4 aut
700	1	a Gudbjartsson, Daniel F4 aut
700	1	a Hanis, Craig4 aut
700	1	a Hansen, Torben4 aut
700	1	a Hreidarsson, Astradur B4 aut
700	1	a Hveem, Kristian4 aut
700	1	a Ingelsson, Eriku Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär epidemiologi4 aut0 (Swepub:uu)ering425
700	1	a Isomaa, Bo4 aut
700	1	a Johansson, Stefan4 aut
700	1	a Jørgensen, Torben4 aut
700	1	a Jørgensen, Marit Eika4 aut
700	1	a Kathiresan, Sekar4 aut
700	1	a Kong, Augustine4 aut
700	1	a Kooner, Jaspal4 aut
700	1	a Kravic, Jasminau Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)med-jik
700	1	a Laakso, Markku4 aut
700	1	a Lee, Jong-Young4 aut
700	1	a Lind, Lars4 aut
700	1	a Lindgren, Cecilia M4 aut
700	1	a Linneberg, Allan4 aut
700	1	a Masson, Gisli4 aut
700	1	a Meitinger, Thomas4 aut
700	1	a Mohlke, Karen L4 aut
700	1	a Molven, Anders4 aut
700	1	a Morris, Andrew P4 aut
700	1	a Potluri, Shobha4 aut
700	1	a Rauramaa, Rainer4 aut
700	1	a Ribel-Madsen, Rasmus4 aut
700	1	a Richard, Ann-Marie4 aut
700	1	a Rolph, Tim4 aut
700	1	a Salomaa, Veikko4 aut
700	1	a Segrè, Ayellet V4 aut
700	1	a Skärstrand, Hannau Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups4 aut0 (Swepub:lu)med-hsk
700	1	a Steinthorsdottir, Valgerdur4 aut
700	1	a Stringham, Heather M4 aut
700	1	a Sulem, Patrick4 aut
700	1	a Tai, E Shyong4 aut
700	1	a Teo, Yik Ying4 aut
700	1	a Teslovich, Tanya4 aut
700	1	a Thorsteinsdottir, Unnur4 aut
700	1	a Trimmer, Jeff K4 aut
700	1	a Tuomi, Tiinamaija4 aut
700	1	a Tuomilehto, Jaakko4 aut
700	1	a Vaziri Sani, Faribau Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups4 aut0 (Swepub:lu)fa3255va
700	1	a Voight, Benjamin F4 aut
700	1	a Wilson, James G4 aut
700	1	a Boehnke, Michael4 aut
700	1	a McCarthy, Mark I4 aut
700	1	a Njølstad, Pål R4 aut
700	1	a Pedersen, Oluf4 aut
700	1	a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr
700	1	a Cox, David R4 aut
700	1	a Stefansson, Kari4 aut
700	1	a Altshuler, David4 aut
710	2	a Uppsala universitetb Kardiovaskulär epidemiologi4 org
773	0	t Nature Geneticsd : Springer Science and Business Media LLCg 46:4, s. 357-357q 46:4<357-357x 1546-1718x 1061-4036
856	4	u http://www.ncbi.nlm.nih.gov/pubmed/24584071?dopt=Abstracty FULLTEXT
856	4	u http://dx.doi.org/10.1038/ng.2915y FULLTEXT
856	4	u https://europepmc.org/articles/pmc4051628?pdf=render
856	4 8	u https://lup.lub.lu.se/record/4384198
856	4 8	u https://doi.org/10.1038/ng.2915
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-225085

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Av författaren/redakt...: Flannick, Jason; Thorleifsson, Gu ...; Lind, Lars; Jacobs, Suzanne ...; Grarup, Niels; Burtt, Noël P; visa fler...; Mahajan, Anubha; Fuchsberger, Chr ...; Atzmon, Gil; Benediktsson, Ra ...; Blangero, John; Bowden, Don W; Brandslund, Ivan; Brosnan, Julia; Burslem, Frank; Chambers, John; Cho, Yoon Shin; Christensen, Cra ...; Douglas, Desiree; Duggirala, Ravin ...; Dymek, Zachary; Farjoun, Yossi; Fennell, Timothy; Fontanillas, Pie ...; Forsén, Tom; Gabriel, Stacey; Glaser, Benjamin; Gudbjartsson, Da ...; Hanis, Craig; Hansen, Torben; Hreidarsson, Ast ...; Hveem, Kristian; Ingelsson, Erik; Isomaa, Bo; Johansson, Stefa ...; Jørgensen, Torbe ...; Jørgensen, Marit ...; Kathiresan, Seka ...; Kong, Augustine; Kooner, Jaspal; Kravic, Jasmina; Laakso, Markku; Lee, Jong-Young; Lindgren, Cecili ...; Linneberg, Allan; Masson, Gisli; Meitinger, Thoma ...; Mohlke, Karen L; Molven, Anders; Morris, Andrew P; Potluri, Shobha; Rauramaa, Rainer; Ribel-Madsen, Ra ...; Richard, Ann-Mar ...; Rolph, Tim; Salomaa, Veikko; Segrè, Ayellet V; Skärstrand, Hann ...; Steinthorsdottir ...; Stringham, Heath ...; Sulem, Patrick; Tai, E Shyong; Teo, Yik Ying; Teslovich, Tanya; Thorsteinsdottir ...; Trimmer, Jeff K; Tuomi, Tiinamaij ...; Tuomilehto, Jaak ...; Vaziri Sani, Far ...; Voight, Benjamin ...; Wilson, James G; Boehnke, Michael; McCarthy, Mark I; Njølstad, Pål R; Pedersen, Oluf; Groop, Leif; Cox, David R; Stefansson, Kari; Altshuler, David; visa färre...

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