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Volumn 65, Issue 4, 2013, Pages 1055-1063

Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in korean women

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 10Q; CHROMOSOME 1Q; CHROMOSOME 8Q; DISEASE PREDISPOSITION; FEMALE; GENE DELETION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HIGH RISK PATIENT; HUMAN; KOREA; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS;

EID: 84875729599     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.37854     Document Type: Article
Times cited : (32)

References (26)
  • 1
    • 37349076340 scopus 로고    scopus 로고
    • General aspects of the genetics of SLE
    • Rhodes B, Vyse TJ,. General aspects of the genetics of SLE. Autoimmunity 2007; 40: 550-9.
    • (2007) Autoimmunity , vol.40 , pp. 550-559
    • Rhodes, B.1    Vyse, T.J.2
  • 2
    • 78649830454 scopus 로고    scopus 로고
    • Genetic susceptibility to systemic lupus erythematosus in the genomic era
    • Deng Y, Tsao BP,. Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol 2010; 6: 683-92.
    • (2010) Nat Rev Rheumatol , vol.6 , pp. 683-692
    • Deng, Y.1    Tsao, B.P.2
  • 3
  • 4
    • 34347353237 scopus 로고    scopus 로고
    • Copy-number variation and association studies of human disease
    • McCarroll SA, Altshuler DM,. Copy-number variation and association studies of human disease. Nat Genet 2007; 39: S37-42.
    • (2007) Nat Genet , vol.39
    • McCarroll, S.A.1    Altshuler, D.M.2
  • 5
    • 77950673469 scopus 로고    scopus 로고
    • Copy number variations in East-Asian population and their evolutionary and functional implications
    • 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: 1001-8.
    • (2010) Hum Mol Genet , vol.19 , pp. 1001-1008
    • Yim, S.H.1    Kim, T.M.2    Hu, H.J.3    Kim, J.H.4    Kim, B.J.5    Lee, J.Y.6
  • 6
    • 34250841166 scopus 로고    scopus 로고
    • 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
    • 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: 1037-54.
    • (2007) Am J Hum Genet , vol.80 , pp. 1037-1054
    • Yang, Y.1    Chung, E.K.2    Wu, Y.L.3    Savelli, S.L.4    Nagaraja, H.N.5    Zhou, B.6
  • 7
    • 34249815834 scopus 로고    scopus 로고
    • FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
    • 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: 721-3.
    • (2007) Nat Genet , vol.39 , pp. 721-723
    • Fanciulli, M.1    Norsworthy, P.J.2    Petretto, E.3    Dong, R.4    Harper, L.5    Kamesh, L.6
  • 8
    • 62549101646 scopus 로고    scopus 로고
    • Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus
    • 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: 142-7.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 142-147
    • Ptacek, T.1    Li, X.2    Kelley, J.M.3    Edberg, J.C.4
  • 10
    • 0031229830 scopus 로고    scopus 로고
    • Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus
    • for the Diagnostic and Therapeutic Criteria Committee of the American College of Rheumatology. [letter]
    • 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.
    • (1997) Arthritis Rheum , vol.40 , pp. 1725
    • Hochberg, M.C.1
  • 11
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • 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: 1665-74.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5    Grant, S.F.6
  • 13
    • 84864005430 scopus 로고    scopus 로고
    • CNVRuler: A copy number variation-based case-control association analysis tool
    • 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: 1790-2.
    • (2012) Bioinformatics. , vol.28 , pp. 1790-1792
    • Kim, J.H.1    Hu, H.J.2    Yim, S.H.3    Bae, J.S.4    Kim, S.Y.5    Chung, Y.J.6
  • 14
    • 79956335923 scopus 로고    scopus 로고
    • The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis
    • 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: 1338-43.
    • (2011) Mol Immunol , vol.48 , pp. 1338-1343
    • Yim, S.H.1    Chung, Y.J.2    Jin, E.H.3    Shim, S.C.4    Kim, J.Y.5    Kim, Y.S.6
  • 15
    • 38449101999 scopus 로고    scopus 로고
    • 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
    • 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: 3012-25.
    • (2007) J Immunol , vol.179 , pp. 3012-3025
    • Wu, Y.L.1    Savelli, S.L.2    Yang, Y.3    Zhou, B.4    Rovin, B.H.5    Birmingham, D.J.6
  • 16
    • 20044377204 scopus 로고    scopus 로고
    • The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
    • 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: 1434-40.
    • (2005) Science , vol.307 , pp. 1434-1440
    • Gonzalez, E.1    Kulkarni, H.2    Bolivar, H.3    Mangano, A.4    Sanchez, R.5    Catano, G.6
  • 17
    • 77953974065 scopus 로고    scopus 로고
    • Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
    • 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.
    • (2010) Nucleic Acids Res , vol.38
    • Dellinger, A.E.1    Saw, S.M.2    Goh, L.K.3    Seielstad, M.4    Young, T.L.5    Li, Y.J.6
  • 18
    • 67349160729 scopus 로고    scopus 로고
    • RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome
    • 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: 311-6.
    • (2009) Virchows Arch , vol.454 , pp. 311-316
    • Roberti, M.C.1    La Starza, R.2    Surace, C.3    Sirleto, P.4    Pinto, R.M.5    Pierini, V.6
  • 19
    • 0036851301 scopus 로고    scopus 로고
    • Protein-protein interactions between large proteins: Two-hybrid screening using a functionally classified library composed of long cDNAs
    • 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: 1773-84.
    • (2002) Genome Res , vol.12 , pp. 1773-1784
    • Nakayama, M.1    Kikuno, R.2    Ohara, O.3
  • 20
    • 79959828831 scopus 로고    scopus 로고
    • Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus
    • 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: 2049-57.
    • (2011) Arthritis Rheum , vol.63 , pp. 2049-2057
    • Ramos, P.S.1    Williams, A.H.2    Ziegler, J.T.3    Comeau, M.E.4    Guy, R.T.5    Lessard, C.J.6
  • 21
    • 50449091647 scopus 로고    scopus 로고
    • Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    • 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: 1107-12.
    • (2008) Nat Genet , vol.40 , pp. 1107-1112
    • McCarroll, S.A.1    Huett, A.2    Kuballa, P.3    Chilewski, S.D.4    Landry, A.5    Goyette, P.6
  • 22
    • 61749088375 scopus 로고    scopus 로고
    • NA-Seq: A discovery tool for the analysis of chromatin structure and dynamics during differentiation
    • 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: 466-81.
    • (2009) Dev Cell , vol.16 , pp. 466-481
    • Gargiulo, G.1    Levy, S.2    Bucci, G.3    Romanenghi, M.4    Fornasari, L.5    Beeson, K.Y.6
  • 23
    • 84862653446 scopus 로고    scopus 로고
    • Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction
    • 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.
    • (2012) PLoS One , vol.7
    • Paakkanen, R.1    Vauhkonen, H.2    Eronen, K.T.3    Jarvinen, A.4    Seppanen, M.5    Lokki, M.L.6
  • 25
    • 84867898265 scopus 로고    scopus 로고
    • Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population
    • 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: 3047-53.
    • (2012) Rheumatol Int , vol.32 , pp. 3047-3053
    • Lv, Y.1    He, S.2    Zhang, Z.3    Li, Y.4    Hu, D.5    Zhu, K.6
  • 26
    • 76049108424 scopus 로고    scopus 로고
    • FCGR3B copy number variation is not associated with lupus nephritis in a Chinese population
    • 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: 158-61.
    • (2010) Lupus , vol.19 , pp. 158-161
    • Lv, J.1    Yang, Y.2    Zhou, X.3    Yu, L.4    Li, R.5    Hou, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.