SEARCH

SEARCH BY CITATION

REFERENCES

  • 1
    Rhodes B, Vyse TJ. General aspects of the genetics of SLE. Autoimmunity 2007; 40: 5509.
  • 2
    Deng Y, Tsao BP. Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol 2010; 6: 68392.
  • 3
    Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet 2006; 7: 8597.
  • 4
    McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet 2007; 39: S3742.
  • 5
    Yim SH, Kim TM, Hu HJ, Kim JH, Kim BJ, Lee JY, et al. Copy number variations in East-Asian population and their evolutionary and functional implications. Hum Mol Genet 2010; 19: 10018.
  • 6
    Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet 2007; 80: 103754.
  • 7
    Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007; 39: 7213.
  • 8
    Ptacek T, Li X, Kelley JM, Edberg JC. Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus. Cytogenet Genome Res 2008; 123: 1427.
  • 9
    Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 12717.
  • 10
    Hochberg MC, for the Diagnostic and Therapeutic Criteria Committee of the American College of Rheumatology. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus [letter]. Arthritis Rheum 1997; 40: 1725.
  • 11
    Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17: 166574.
  • 12
    Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature 2006; 444: 44454.
  • 13
    Kim JH, Hu HJ, Yim SH, Bae JS, Kim SY, Chung YJ. CNVRuler: a copy number variation-based case–control association analysis tool. Bioinformatics. 2012; 28: 17902.
  • 14
    Yim SH, Chung YJ, Jin EH, Shim SC, Kim JY, Kim YS, et al. The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis. Mol Immunol 2011; 48: 133843.
  • 15
    Wu YL, Savelli SL, Yang Y, Zhou B, Rovin BH, Birmingham DJ, et al. Sensitive and specific real-time polymerase chain reaction assays to accurately determine copy number variations (CNVs) of human complement C4A, C4B, C4-long, C4-short, and RCCX modules: elucidation of C4 CNVs in 50 consanguineous subjects with defined HLA genotypes. J Immunol 2007; 179: 301225.
  • 16
    Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005; 307: 143440.
  • 17
    Dellinger AE, Saw SM, Goh LK, Seielstad M, Young TL, Li YJ. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res 2010; 38: e105.
  • 18
    Roberti MC, La Starza R, Surace C, Sirleto P, Pinto RM, Pierini V, et al. RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome. Virchows Arch 2009; 454: 3116.
  • 19
    Nakayama M, Kikuno R, Ohara O. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. Genome Res 2002; 12: 177384.
  • 20
    Ramos PS, Williams AH, Ziegler JT, Comeau ME, Guy RT, Lessard CJ, et al. Genetic analyses of interferon pathway–related genes reveal multiple new loci associated with systemic lupus erythematosus. Arthritis Rheum 2011; 63: 204957.
  • 21
    McCarroll SA, Huett A, Kuballa P, Chilewski SD, Landry A, Goyette P, et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet 2008; 40: 110712.
  • 22
    Gargiulo G, Levy S, Bucci G, Romanenghi M, Fornasari L, Beeson KY, et al. NA-Seq: a discovery tool for the analysis of chromatin structure and dynamics during differentiation. Dev Cell 2009; 16: 46681.
  • 23
    Paakkanen R, Vauhkonen H, Eronen KT, Jarvinen A, Seppanen M, Lokki ML. Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction. PLoS One 2012; 7: e38813.
  • 24
    Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, et al. Population-genetic properties of differentiated human copy-number polymorphisms. Am J Hum Genet 2011; 88: 31732.
  • 25
    Lv Y, He S, Zhang Z, Li Y, Hu D, Zhu K, et al. Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population. Rheumatol Int 2012; 32: 304753.
  • 26
    Lv J, Yang Y, Zhou X, Yu L, Li R, Hou P, et al. FCGR3B copy number variation is not associated with lupus nephritis in a Chinese population. Lupus 2010; 19: 15861.