The genetic effect of copy number variations on the risk of type 2 diabetes in a Korean population

PLoS ONE

Volumn 6, Issue 4, 2011, Pages

  Bae, Joon Seol ^a   Cheong, Hyun Sub ^b,c   Kim, Ji Hong ^d,e   Park, Byung Lae ^b   Kim, Jeong Hyun ^a   Park, Tae Joon ^a   Kim, Jason Yongha ^a   Pasaje, Charisse Flerida A ^a   Lee, Jin Sol ^a   Park, Yun Ju ^f   Park, Miey ^f   Park, Chan ^f   Koh, InSong ^g   Chung, Yeun Jun ^d,e   Lee, Jong Young ^f   Shin, Hyoung Doo ^a,b  

^a Sogang University   (South Korea)

^b SNP Genetics Inc   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

^d The Catholic University of Korea   (South Korea)

^e The Catholic University of Korea   (South Korea)

^f National Institute of Health (NIH)   (South Korea)

^g Hanyang University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL COMMUNICATION; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DELETION; GENE FREQUENCY; GENE LOCATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HUMAN; KOREA; MAJOR CLINICAL STUDY; NON INSULIN DEPENDENT DIABETES MELLITUS; POPULATION RESEARCH; REGULATORY MECHANISM; RISK ASSESSMENT; SENSITIVITY ANALYSIS; SIGNAL TRANSDUCTION; ASIAN; CHROMOSOME 15; CHROMOSOME MAP; GENETIC PREDISPOSITION; GENETICS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY; SOUTH KOREA; STATISTICAL MODEL;

ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DIABETES MELLITUS, TYPE 2; DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOGISTIC MODELS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; REPUBLIC OF KOREA;

EID: 79955548007     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0019091     Document Type: Article

References (41)

1. Wild S, Roglic G, Green A, Sicree R, King H, (2004) Global prevalence of diabetes: estimates for the year 2000 and projections for 2030. Diabetes Care 27: 1047-1053.
2. Elbein SC, (2002) Perspective: the search for genes for type 2 diabetes in the post-genome era. Endocrinology 143: 2012-2018.
3. Groop LC, Tuomi T, (1997) Non-insulin-dependent diabetes mellitus-a collision between thrifty genes and an affluent society. Ann Med 29: 37-53.
4. Barroso I, (2005) Genetics of Type 2 diabetes. Diabet Med 22: 517-535.
5. Ahlqvist E, Ahluwalia TS, Groop L, (2011) Genetics of Type 2 Diabetes. Clin Chem 57.
6. Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, et al. (2010) Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet 42: 579-589.
7. Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, et al. (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464: 713-720.
8. Bridges CB, (1936) The Bar "gene" a duplication. Science 83: 210-211.
9. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
10. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712.
11. Henrichsen CN, Vinckenbosch N, Zollner S, Chaignat E, Pradervand S, et al. (2009) Segmental copy number variation shapes tissue transcriptomes. Nat Genet 41: 424-429.
12. Bae JS, Cheong HS, Kim JO, Lee SO, Kim EM, et al. (2008) Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population. Biochem Biophys Res Commun 373: 593-596.
13. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
14. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
15. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, et al. (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358: 667-675.
16. Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, et al. (2008) Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol 7: 319-326.
17. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, et al. (2009) Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533.
18. de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, et al. (2009) Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet 41: 211-215.
19. Yang TL, Chen XD, Guo Y, Lei SF, Wang JT, et al. (2008) Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. Am J Hum Genet 83: 663-674.
20. Bae JS, Cheong HS, Chun JY, Park TJ, Kim JO, et al. (2010) Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. Ophthalmology 117: 1306-1312 e1304.
21. Bae JS, Cheong HS, Park BL, Kim LH, Park TJ, et al. (2010) Genome-wide association analysis of copy number variations in subarachnoid aneurysmal hemorrhage. J Hum Genet Epub ahead of print.
22. Zhang F, Gu W, Hurles ME, Lupski JR, (2009) Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 10: 451-481.
23. Bae JS, Cheong HS, Kim LH, NamGung S, Park TJ, et al. (2010) Identification of copy number variations and common deletion polymorphisms in cattle. BMC Genomics 11: 232.
24. Bae JS, Cheong HS, Park BL, Kim LH, Han CS, et al. (2010) Genome-wide profiling of structural genomic variations in Korean HapMap individuals. PLoS One 5: e11417.
25. Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674.
26. Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, et al. (2009) Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 41: 334-341.
27. Wang K, Chen Z, Tadesse MG, Glessner J, Grant SF, et al. (2008) Modeling genetic inheritance of copy number variations. Nucleic Acids Res 36: e138.
28. Beissbarth T, (2006) Interpreting experimental results using gene ontologies. Methods Enzymol 411: 340-352.
29. Beissbarth T, Speed TP, (2004) GOstat: find statistically overrepresented gene ontologies within a group of genes. Bioinformatics 20: 1464-1465.
30. Stumvoll M, Goldstein BJ, van Haeften TW, (2005) Type 2 diabetes: principles of pathogenesis and therapy. Lancet 365: 1333-1346.
31. Kwak SH, Kim TH, Cho YM, Choi SH, Jang HC, et al. (2010) Polymorphisms in KCNQ1 are associated with gestational diabetes in a Korean population. Horm Res Paediatr Epub ahead of print.
32. Rong R, Hanson RL, Ortiz D, Wiedrich C, Kobes S, et al. (2009) Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians. Diabetes 58: 478-488.
33. Shtir C, Pique-Regi R, Siegmund K, Morrison J, Schumacher F, et al. (2009) Copy number variation in the Framingham Heart Study. BMC Proc 3 (Suppl 7): S133.
34. Jeon JP, Shim SM, Nam HY, Ryu GM, Hong EJ, et al. (2010) Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus. BMC Genomics 11: 426.
35. Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Sabatti C, et al. (2008) Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 83: 504-510.
36. Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, et al. (2008) Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451: 998-1003.
37. Need AC, Ge D, Weale ME, Maia J, Feng S, et al. (2009) A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 5: e1000373.
38. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, et al. (2009) Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5: e1000536.
39. Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, et al. (2009) Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459: 987-991.
40. Cusco I, Medrano A, Gener B, Vilardell M, Gallastegui F, et al. (2009) Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet 18: 1795-1804.
41. Bae JS, Cheong HS, Kim LH, NamGung S, Park TJ, et al. (2010) Identification of copy number variations and common deletion polymorphisms in cattle. BMC Genomics 11: 232.