GCKR mutations in Japanese families with clustered type 2 diabetes

Molecular Genetics and Metabolism

Volumn 102, Issue 4, 2011, Pages 453-460

  Tanaka, Daisuke ^a   Nagashima, Kazuaki ^a   Sasaki, Mayumi ^a   Yamada, Chizumi ^a   Funakoshi, Shogo ^a   Akitomo, Kimiyo ^a   Takenaka, Katsunobu ^b   Harada, Kouji ^a   Koizumi, Akio ^a   Inagaki, Nobuya ^a  

^a KYOTO UNIVERSITY   (Japan)

^b Takayama Red Cross Hospital   (Japan)

Author keywords

GCKR; Genetic susceptibility; HNF1A; Linkage analysis; MODY

Indexed keywords

GLUCOKINASE; GLUCOKINASE REGULATORY PROTEIN; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; NEUROGENIC DIFFERENTIATION FACTOR; ORAL ANTIDIABETIC AGENT; REGULATOR PROTEIN; STEROID RECEPTOR COACTIVATOR 1; TRANSCRIPTION FACTOR PDX 1; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 2; CHROMOSOME 7; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; JAPANESE; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 2; EXONS; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 79952623973     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.12.009     Document Type: Article

References (34)

1. Ministry of Health, Labor and Welfare of Japan, Health and Nutrition Survey. 2007 2008.
2. O'Rahilly S., Barroso I., Wareham N.J. Genetic factors in type 2 diabetes: the end of the beginning?. Science 2005, 307:370-373.
3. Mori Y., Otabe S., Dina C., Yasuda K., Populaire C., Lecoeur C., Vatin V., Durand E., Hara K., Okada T., Tobe K., Boutin P., Kadowaki T., Froguel P. Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate loci on 7p and 11p. Diabetes 2002, 51:1247-1255.
4. Iwasaki N., Cox N.J., Wang Y.Q., Schwarz P.E., Bell G.I., Honda M., Imura M., Ogata M., Saito M., Kamatani N., Iwamoto Y. Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects. Diabetes 2003, 52:209-213.
5. Nawata H., Shirasawa S., Nakashima N., Araki E., Hashiguchi J., Miyake S., Yamauchi T., Hamaguchi K., Yoshimatsu H., Takeda H., Fukushima H., Sasahara T., Yamaguchi K., Sonoda N., Sonoda T., Matsumoto M., Tanaka Y., Sugimoto H., Tsubouchi H., Inoguchi T., Yanase T., Wake N., Narazaki K., Eto T., Umeda F., Nakazaki M., Ono J., Asano T., Ito Y., Akazawa S., Hazegawa I., Takasu N., Shinohara M., Nishikawa T., Nagafuchi S., Okeda T., Eguchi K., Iwase M., Ishikawa M., Aoki M., Keicho N., Kato N., Yasuda K., Yamamoto K., Sasazuki T. Genome-wide linkage analysis of type 2 diabetes mellitus reconfirms the susceptibility locus on 11p13-p12 in Japanese. J. Hum. Genet. 2004, 49:629-634.
6. Yasuda K., Miyake K., Horikawa Y., Hara K., Osawa H., Furuta H., Hirota Y., Mori H., Jonsson A., Sato Y., Yamagata K., Hinokio Y., Wang H.Y., Tanahashi T., Nakamura N., Oka Y., Iwasaki N., Iwamoto Y., Yamada Y., Seino Y., Maegawa H., Kashiwagi A., Takeda J., Maeda E., Shin H.D., Cho Y.M., Park K.S., Lee H.K., Ng M.C., Ma R.C., So W.Y., Chan J.C., Lyssenko V., Tuomi T., Nilsson P., Groop L., Kamatani N., Sekine A., Nakamura Y., Yamamoto K., Yoshida T., Tokunaga K., Itakura M., Makino H., Nanjo K., Kadowaki T., Kasuga M. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat. Genet. 2008, 40:1092-1097.
7. Unoki H., Takahashi A., Kawaguchi T., Hara K., Horikoshi M., Andersen G., Ng D.P., Holmkvist J., Borch-Johnsen K., Jorgensen T., Sandbaek A., Lauritzen T., Hansen T., Nurbaya S., Tsunoda T., Kubo M., Babazono T., Hirose H., Hayashi M., Iwamoto Y., Kashiwagi A., Kaku K., Kawamori R., Tai E.S., Pedersen O., Kamatani N., Kadowaki T., Kikkawa R., Nakamura Y., Maeda S. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat. Genet. 2008, 40:1098-1102.
8. Miyake K., Yang W., Hara K., Yasuda K., Horikawa Y., Osawa H., Furuta H., Ng M.C., Hirota Y., Mori H., Ido K., Yamagata K., Hinokio Y., Oka Y., Iwasaki N., Iwamoto Y., Yamada Y., Seino Y., Maegawa H., Kashiwagi A., Wang H.Y., Tanahashi T., Nakamura N., Takeda J., Maeda E., Yamamoto K., Tokunaga K., Ma R.C., So W.Y., Chan J.C., Kamatani N., Makino H., Nanjo K., Kadowaki T., Kasuga M. Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association. J. Hum. Genet. 2009, 54:236-241.
9. Lander E.S., Schork N.J. Genetic dissection of complex traits. Science 1994, 265:2037-2048.
10. Yamagata K. Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY). Endocr. J. 2003, 50:491-499.
11. Mineharu Y., Takenaka K., Yamakawa H., Inoue K., Ikeda H., Kikuta K.I., Takagi Y., Nozaki K., Hashimoto N., Koizumi A. Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J. Neurol. Neurosurg. Psychiatry 2006, 77:1025-1029.
12. Report of the Committee on the classification and diagnostic criteria of diabetes mellitus. J. Jpn Diab. Soc. 2010, 53:450-467. The Committee of Japan Diabetes Society on the diagnostic criteria of diabetes mellitus.
13. Kruglyak L., Daly M.J., Reeve-Daly M.P., Lander E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 1996, 58:1347-1363.
14. Aerts S., Lambrechts D., Maity S., Van Loo P., Coessens B., De Smet F., Tranchevent L.C., De Moor B., Marynen P., Hassan B., Carmeliet P., Moreau Y. Gene prioritization through genomic data fusion. Nat. Biotechnol. 2006, 24:537-544.
15. Bodmer W., Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet. 2008, 40:695-701.
16. Ellard S., Bellanne-Chantelot C., Hattersley A.T. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008, 51:546-553.
17. Yamada S., Nishigori H., Onda H., Utsugi T., Yanagawa T., Maruyama T., Onigata K., Nagashima K., Nagai R., Morikawa A., Takeuchi T., Takeda J. Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. Diabetes 1997, 46:1643-1647.
18. Zhu Q., Yamagata K., Miura A., Shihara N., Horikawa Y., Takeda J., Miyagawa J., Matsuzawa Y. T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects. Diabetologia 2003, 46:567-573.
19. Grimsby J., Coffey J.W., Dvorozniak M.T., Magram J., Li G., Matschinsky F.M., Shiota C., Kaur S., Magnuson M.A., Grippo J.F. Characterization of glucokinase regulatory protein-deficient mice. J. Biol. Chem. 2000, 275:7826-7831.
20. Slosberg E.D., Desai U.J., Fanelli B., St Denny I., Connelly S., Kaleko M., Boettcher B.R., Caplan S.L. Treatment of type 2 diabetes by adenoviral-mediated overexpression of the glucokinase regulatory protein. Diabetes 2001, 50:1813-1820.
21. Duda K., Chi Y.I., Shoelson S.E. Structural basis for HNF-4alpha activation by ligand and coactivator binding. J. Biol. Chem. 2004, 279:23311-23316.
22. Yorifuji T., Nagashima K., Kurokawa K., Kawai M., Oishi M., Akazawa Y., Hosokawa M., Yamada Y., Inagaki N., Nakahata T. The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J. Clin. Endocrinol. Metab. 2005, 90:3174-3178.
23. Sparso T., Andersen G., Nielsen T., Burgdorf K.S., Gjesing A.P., Nielsen A.L., Albrechtsen A., Rasmussen S.S., Jorgensen T., Borch-Johnsen K., Sandbaek A., Lauritzen T., Madsbad S., Hansen T., Pedersen O. The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes. Diabetologia 2008, 51:70-75.
24. Vaxillaire M., Cavalcanti-Proenca C., Dechaume A., Tichet J., Marre M., Balkau B., Froguel P. The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population. Diabetes 2008, 57:2253-2257.
25. Orho-Melander M., Melander O., Guiducci C., Perez-Martinez P., Corella D., Roos C., Tewhey R., Rieder M.J., Hall J., Abecasis G., Tai E.S., Welch C., Arnett D.K., Lyssenko V., Lindholm E., Saxena R., de Bakker P.I., Burtt N., Voight B.F., Hirschhorn J.N., Tucker K.L., Hedner T., Tuomi T., Isomaa B., Eriksson K.F., Taskinen M.R., Wahlstrand B., Hughes T.E., Parnell L.D., Lai C.Q., Berglund G., Peltonen L., Vartiainen E., Jousilahti P., Havulinna A.S., Salomaa V., Nilsson P., Groop L., Altshuler D., Ordovas J.M., Kathiresan S. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes 2008, 57:3112-3121.
26. Qi Q., Wu Y., Li H., Loos R.J., Hu F.B., Sun L., Lu L., Pan A., Liu C., Wu H., Chen L., Yu Z., Lin X. Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population. Diabetologia 2009, 52:834-843.
27. Takeuchi F., Katsuya T., Chakrewarthy S., Yamamoto K., Fujioka A., Serizawa M., Fujisawa T., Nakashima E., Ohnaka K., Ikegami H., Sugiyama T., Nabika T., Kasturiratne A., Yamaguchi S., Kono S., Takayanagi R., Yamori Y., Kobayashi S., Ogihara T., de Silva A., Wickremasinghe R., Kato N. Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations. Diabetologia 2010, 53:299-308.
28. Saxena R., Hivert M.F., Langenberg C., Tanaka T., Pankow J.S., Vollenweider P., Lyssenko V., Bouatia-Naji N., Dupuis J., Jackson A.U., Kao W.H., Li M., Glazer N.L., Manning A.K., Luan J., Stringham H.M., Prokopenko I., Johnson T., Grarup N., Boesgaard T.W., Lecoeur C., Shrader P., O'Connell J., Ingelsson E., Couper D.J., Rice K., Song K., Andreasen C.H., Dina C., Kottgen A., Le Bacquer O., Pattou F., Taneera J., Steinthorsdottir V., Rybin D., Ardlie K., Sampson M., Qi L., van Hoek M., Weedon M.N., Aulchenko Y.S., Voight B.F., Grallert H., Balkau B., Bergman R.N., Bielinski S.J., Bonnefond A., Bonnycastle L.L., Borch-Johnsen K., Bottcher Y., Brunner E., Buchanan T.A., Bumpstead S.J., Cavalcanti-Proenca C., Charpentier G., Chen Y.D., Chines P.S., Collins F.S., Cornelis M., J.C.G, Delplanque J., Doney A., Egan J.M., Erdos M.R., Firmann M., Forouhi N.G., Fox C.S., Goodarzi M.O., Graessler J., Hingorani A., Isomaa B., Jorgensen T., Kivimaki M., Kovacs P., Krohn K., Kumari M., Lauritzen T., Levy-Marchal C., Mayor V., McAteer J.B., Meyre D., Mitchell B.D., Mohlke K.L., Morken M.A., Narisu N., Palmer C.N., Pakyz R., Pascoe L., Payne F., Pearson D., Rathmann W., Sandbaek A., Sayer A.A., Scott L.J., Sharp S.J., Sijbrands E., Singleton A., Siscovick D.S., Smith N.L., Sparso T., Swift A.J., Syddall H., Thorleifsson G., Tonjes A., Tuomi T., Tuomilehto J., Valle T.T., Waeber G., Walley A., Waterworth D.M., Zeggini E., Zhao J.H., Illig T., Wichmann H.E., Wilson J.F., van Duijn C., Hu F.B., Morris A.D., Frayling T.M., Hattersley A.T., Thorsteinsdottir U., Stefansson K., Nilsson P., Syvanen A.C., Shuldiner A.R., Walker M., Bornstein S.R., Schwarz P., Williams G.H., Nathan D.M., Kuusisto J., Laakso M., Cooper C., Marmot M., Ferrucci L., Mooser V., Stumvoll M., Loos R.J., Altshuler D., Psaty B.M., Rotter J.I., Boerwinkle E., Hansen T., Pedersen O., Florez J.C., McCarthy M.I., Boehnke M., Barroso I., Sladek R., Froguel P., Meigs J.B., Groop L., Wareham N.J., Watanabe R.M. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat. Genet. 2010, 42:142-148.
29. Dupuis J., Langenberg C., Prokopenko I., Saxena R., Soranzo N., Jackson A.U., Wheeler E., Glazer N.L., Bouatia-Naji N., Gloyn A.L., Lindgren C.M., Magi R., Morris A.P., Randall J., Johnson T., Elliott P., Rybin D., Thorleifsson G., Steinthorsdottir V., Henneman P., Grallert H., Dehghan A., Hottenga J.J., Franklin C.S., Navarro P., Song K., Goel A., Perry J.R., Egan J.M., Lajunen T., Grarup N., Sparso T., Doney A., Voight B.F., Stringham H.M., Li M., Kanoni S., Shrader P., Cavalcanti-Proenca C., Kumari M., Qi L., Timpson N.J., Gieger C., Zabena C., Rocheleau G., Ingelsson E., An P., O'Connell J., Luan J., Elliott A., McCarroll S.A., Payne F., Roccasecca R.M., Pattou F., Sethupathy P., Ardlie K., Ariyurek Y., Balkau B., Barter P., Beilby J.P., Ben-Shlomo Y., Benediktsson R., Bennett A.J., Bergmann S., Bochud M., Boerwinkle E., Bonnefond A., Bonnycastle L.L., Borch-Johnsen K., Bottcher Y., Brunner E., Bumpstead S.J., Charpentier G., Chen Y.D., Chines P., Clarke R., Coin L.J., Cooper M.N., Cornelis M., Crawford G., Crisponi L., Day I.N., de Geus E.J., Delplanque J., Dina C., Erdos M.R., Fedson A.C., Fischer-Rosinsky A., Forouhi N.G., Fox C.S., Frants R., Franzosi M.G., Galan P., Goodarzi M.O., Graessler J., Groves C.J., Grundy S., Gwilliam R., Gyllensten U., Hadjadj S., Hallmans G., Hammond N., Han X., Hartikainen A.L., Hassanali N., Hayward C., Heath S.C., Hercberg S., Herder C., Hicks A.A., Hillman D.R., Hingorani A.D., Hofman A., Hui J., Hung J., Isomaa B., Johnson P.R., Jorgensen T., Jula A., Kaakinen M., Kaprio J., Kesaniemi Y.A., Kivimaki M., Knight B., Koskinen S., Kovacs P., Kyvik K.O., Lathrop G.M., Lawlor D.A., Le Bacquer O., Lecoeur C., Li Y., Lyssenko V., Mahley R., Mangino M., Manning A.K., Martinez-Larrad M.T., McAteer J.B., McCulloch L.J., McPherson R., Meisinger C., Melzer D., Meyre D., Mitchell B.D., Morken M.A., Mukherjee S., Naitza S., Narisu N., Neville M.J., Oostra B.A., Orru M., Pakyz R., Palmer C.N., Paolisso G., Pattaro C., Pearson D., Peden J.F., Pedersen N.L., Perola M., Pfeiffer A.F., Pichler I., Polasek O., Posthuma D., Potter S.C., Pouta A., Province M.A., Psaty B.M., Rathmann W., Rayner N.W., Rice K., Ripatti S., Rivadeneira F., Roden M., Rolandsson O., Sandbaek A., Sandhu M., Sanna S., Sayer A.A., Scheet P., Scott L.J., Seedorf U., Sharp S.J., Shields B., Sigurethsson G., Sijbrands E.J., Silveira A., Simpson L., Singleton A., Smith N.L., Sovio U., Swift A., Syddall H., Syvanen A.C., Tanaka T., Thorand B., Tichet J., Tonjes A., Tuomi T., Uitterlinden A.G., van Dijk K.W., van Hoek M., Varma D., Visvikis-Siest S., Vitart V., Vogelzangs N., Waeber G., Wagner P.J., Walley A., Walters G.B., Ward K.L., Watkins H., Weedon M.N., Wild S.H., Willemsen G., Witteman J.C., Yarnell J.W., Zeggini E., Zelenika D., Zethelius B., Zhai G., Zhao J.H., Zillikens M.C., Borecki I.B., Loos R.J., Meneton P., Magnusson P.K., Nathan D.M., Williams G.H., Hattersley A.T., Silander K., Salomaa V., Smith G.D., Bornstein S.R., Schwarz P., Spranger J., Karpe F., Shuldiner A.R., Cooper C., Dedoussis G.V., Serrano-Rios M., Morris A.D., Lind L., Palmer L.J., Hu F.B., Franks P.W., Ebrahim S., Marmot M., Kao W.H., Pankow J.S., Sampson M.J., Kuusisto J., Laakso M., Hansen T., Pedersen O., Pramstaller P.P., Wichmann H.E., Illig T., Rudan I., Wright A.F., Stumvoll M., Campbell H., Wilson J.F., Bergman R.N., Buchanan T.A., Collins F.S., Mohlke K.L., Tuomilehto J., Valle T.T., Altshuler D., Rotter J.I., Siscovick D.S., Penninx B.W., Boomsma D.I., Deloukas P., Spector T.D., Frayling T.M., Ferrucci L., Kong A., Thorsteinsdottir U., Stefansson K., van Duijn C.M., Aulchenko Y.S., Cao A., Scuteri A., Schlessinger D., Uda M., Ruokonen A., Jarvelin M.R., Waterworth D.M., Vollenweider P., Peltonen L., Mooser V., Abecasis G.R., Wareham N.J., Sladek R., Froguel P., Watanabe R.M., Meigs J.B., Groop L., Boehnke M., McCarthy M.I., Florez J.C., Barroso I. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat. Genet. 2010, 42:105-116.
30. Onuma H., Tabara Y., Kawamoto R., Shimizu I., Kawamura R., Takata Y., Nishida W., Ohashi J., Miki T., Kohara K., Makino H., Osawa H. The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population. J. Hum. Genet. 2010, 55:600-604.
31. Johansen C.T., Wang J., Lanktree M.B., Cao H., McIntyre A.D., Ban M.R., Martins R.A., Kennedy B.A., Hassell R.G., Visser M.E., Schwartz S.M., Voight B.F., Elosua R., Salomaa V., O'Donnell C.J., Dallinga-Thie G.M., Anand S.S., Yusuf S., Huff M.W., Kathiresan S., Hegele R.A. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat. Genet. 2010, 42:684-687.
32. Hayward B.E., Dunlop N., Intody S., Leek J.P., Markham A.F., Warner J.P., Bonthron D.T. Organization of the human glucokinase regulator gene GCKR. Genomics 1998, 49:137-142.
33. Licatalosi D.D., Darnell R.B. RNA processing and its regulation: global insights into biological networks. Nat. Rev. Genet. 2010, 11:75-87.
34. Heinemeyer T., Wingender E., Reuter I., Hermjakob H., Kel A.E., Kel O.V., Ignatieva E.V., Ananko E.A., Podkolodnaya O.A., Kolpakov F.A., Podkolodny N.L., Kolchanov N.A. Databases on transcriptional regulation: TRANSFAC, TRRD, and COMPEL. Nucleic Acids Res. 1998, 26:364-370.