Locus and gene-based GWAS meta-analysis identifies new diabetic nephropathy genes
作者： Mohammad Saeed
DOI: 10.1007/S00251-017-1044-0
关键词:
摘要: Objective Assimilation of SNPs Interacting in Synchrony (OASIS) is a locus-based clustering algorithm recently described that can potentially address false positives and negatives genome-wide association studies (GWAS) complex disorders. Diabetic nephropathy (DN) incompletely understood due to paucity genes identified despite several GWAS. OASIS was applied three DN dbGAP GWAS datasets (4725 subjects; 1.06 million SNPs). 19 which were verified using single variant replication standard study gene-based analysis GATES. CARS FRMD3 confirmed as genes, five known diabetes-associated viz. NLRP3, INPPL1, PIK3C2G, NRXN3, TBC1D4, not previously these discovered. Furthermore, additional novel found replicated two sets analysis, NTN1, EBF2, DNAH11. Hence, composite with OASIS, gene-based, testing be universally existing for the identification new genes.
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sci-hub.se 参考文章(36)
Yi-Cheng Chang, Recent progress in the genetics of diabetic microvascular complications. World Journal of Diabetes. ,vol. 6, pp. 715- 725 ,(2015) , 10.4239/WJD.V6.I5.715
Jasna Klen, Katja Goričar, Andrej Janež, Vita Dolžan, NLRP3 Inflammasome Polymorphism and Macrovascular Complications in Type 2 Diabetes Patients Experimental Diabetes Research. ,vol. 2015, pp. 616747- 616747 ,(2015) , 10.1155/2015/616747
M. E. Hyvönen, P. Ihalmo, C. Forsblom, L. Thorn, N. Sandholm, S. Lehtonen, P.-H. Groop, INPPL1 is associated with the metabolic syndrome in men with Type 1 diabetes, but not with diabetic nephropathy. Diabetic Medicine. ,vol. 29, pp. 1589- 1595 ,(2012) , 10.1111/J.1464-5491.2012.03668.X
Makoto Daimon, Hidenori Sato, Toshihide Oizumi, Sayumi Toriyama, Takafumi Saito, Shigeru Karasawa, Yumi Jimbu, Kiriko Wada, Wataru Kameda, Shinji Susa, Hiroshi Yamaguchi, Mitsuru Emi, Masaaki Muramatsu, Isao Kubota, Sumio Kawata, Takeo Kato, Association of the PIK3C2G gene polymorphisms with type 2 DM in a Japanese population. Biochemical and Biophysical Research Communications. ,vol. 365, pp. 466- 471 ,(2005) , 10.1016/J.BBRC.2007.10.180
Miao-Xin Li, Pak C. Sham, Stacey S. Cherny, You-Qiang Song, A knowledge-based weighting framework to boost the power of genome-wide association studies. PLOS ONE. ,vol. 5, ,(2010) , 10.1371/JOURNAL.PONE.0014480
R. H. Duerr, K. D. Taylor, S. R. Brant, J. D. Rioux, M. S. Silverberg, M. J. Daly, A. H. Steinhart, C. Abraham, M. Regueiro, A. Griffiths, T. Dassopoulos, A. Bitton, H. Yang, S. Targan, L. W. Datta, E. O. Kistner, L. P. Schumm, A. T. Lee, P. K. Gregersen, M. M. Barmada, J. I. Rotter, D. L. Nicolae, J. H. Cho, A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene Science. ,vol. 314, pp. 1461- 1463 ,(2006) , 10.1126/SCIENCE.1135245
Kenneth J. Rothman, No adjustments are needed for multiple comparisons. Epidemiology. ,vol. 1, pp. 43- 46 ,(1990) , 10.1097/00001648-199001000-00010
Ida Moltke, Niels Grarup, Marit E Jørgensen, Peter Bjerregaard, Jonas T Treebak, Matteo Fumagalli, Thorfinn S Korneliussen, Marianne A Andersen, Thomas S Nielsen, Nikolaj T Krarup, Anette P Gjesing, Juleen R Zierath, Allan Linneberg, Xueli Wu, Guangqing Sun, Xin Jin, Jumana Al-Aama, Jun Wang, Knut Borch-Johnsen, Oluf Pedersen, Rasmus Nielsen, Anders Albrechtsen, Torben Hansen, None, A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes Nature. ,vol. 512, pp. 190- 193 ,(2014) , 10.1038/NATURE13425
Benjamin M. Neale, Pak C. Sham, The future of association studies: gene-based analysis and replication. American Journal of Human Genetics. ,vol. 75, pp. 353- 362 ,(2004) , 10.1086/423901
M. Saeed, Y. Yang, H-X Deng, W-Y Hung, N. Siddique, L. Dellefave, C. Gellera, P. M. Andersen, T. Siddique, Age and founder effect of SOD1 A4V mutation causing ALS. Neurology. ,vol. 72, pp. 1634- 1639 ,(2009) , 10.1212/01.WNL.0000343509.76828.2A