Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population

Rheumatology International

Volumn 32, Issue 10, 2012, Pages 3047-3053

  Lv, Yongmei ^a,b   He, Sumin ^a,b   Zhang, Zheng ^a,b   Li, Yang ^a,b   Hu, Dayan ^a,b   Zhu, Kunju ^a,b   Cheng, Hui ^a,b   Zhou, Fusheng ^a,b   Chen, Gang ^a,b   Zheng, Xiaodong ^a,b   Li, Pan ^a,b   Ren, Yunqing ^a,b   Yin, Xianyong ^a,b   Cui, Yong ^a,b   Sun, Liangdan ^a,b   Yang, Sen ^a,b   Zhang, Xuejun ^a,b  

^a ANHUI MEDICAL UNIVERSITY   (China)

^b Ministry of National Science and Technology   (China)

Author keywords

CNV GCN; Complement C4; Phenotype; Systemic lupus erythematosus

Indexed keywords

COMPLEMENT COMPONENT C4;

ADULT; ARTICLE; CAUCASIAN; CHINESE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; IMMUNOPATHOGENESIS; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; COMPLEMENT C4; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; ODDS RATIO; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; RISK ASSESSMENT; RISK FACTORS; YOUNG ADULT;

EID: 84867898265     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-011-2023-7     Document Type: Article

References (35)

1. Hopkinson ND, Doherty M, Powell RJ (1994) Clinical features and race-specific incidence/prevalence rates of systemic lupus erythematosus in a geographically complete cohort of patients. Ann Rheum Dis 53:675-680
2. Wang J, Yang S, Chen JJ et al (2007) Systemic lupus erythematosus: a genetic epidemiology study of 695 patients from China. Arch Dermatol Res 298:485-491
3. Zeng QY, Chen R, Darmawan J et al (2008) Rheumatic diseases in China. Arthritis Res Ther 10:R17
4. Shen L, LC Wu, Sanlioglu S et al (1994) Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. J Biol Chem 269:8466-8476
5. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY (1999) Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations. J Biol Chem 274:12147-12156
6. Yu CY (1991) The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene. J Immunol 146:1057-1066
7. CY Yu, Belt KT, Giles CM, Campbell RD, Porter RR (1986) Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity. EMBO J 5:2873-2881
8. YL Wu, Yang Y, Chung EK et al (2008) Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus. Cytogenet Genome Res 123:131-141
9. Yang Y, Chung EK, Wu YL et al (2007) 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 80:1037-1054
10. Doherty DG, Ireland R, Demaine AG et al (1992) Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus in southern Chinese. Arthritis Rheum 35:641-646
11. Hong GH, Kim HY, Takeuchi F et al (1994) Association of complement C4 and HLA-DR alleles with systemic lupus erythematosus in Koreans. J Rheumatol 21:442-447
12. Yamada H, Watanabe A, Mimori A et al (1990) Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. J Rheumatol 17:1054-1057
13. Hochberg MC (1997) Updating the American college of rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725
14. Szilagyi A, Blasko B, Szilassy D et al (2006) Real-time PCR quantification of human complement C4A and C4B genes. BMC Genet 7:1
15. YL Wu, Savelli SL, Yang Y et al (2007) 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 179:3012-3025
16. Blanchong CA, Zhou B, Rupert KL et al (2000) Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease. J Exp Med 191:2183-2196
17. Chung EK, Yang Y, Rennebohm RM et al (2002) Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex. Am J Hum Genet 71:823-837
18. Schur PH, Sandson J (1968) Immunologic factors and clinical activity in systemic lupus erythematosus. N Engl J Med 278:533-538
19. Fielder AH, Walport MJ, Batchelor JR. et al (1983) Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J (Clin Res Ed) 286:425-428
20. Kamatani Y, Matsuda K, Ohishi T et al (2008) Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population. J Hum Genet 53:64-73
21. CY Yu, Campbell RD (1987) Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: application to the study of C4 null alleles. Immunogenetics 25:383-390
22. Yang Y, Chung EK, Zhou B et al (2003) Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities, and body mass index. J Immunol 171:2734-2745
23. Leveziel N, Zerbib J, Richard F et al (2008) Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes. Invest Ophthalmol Vis Sci 49:3090-3094
24. Thorburn CM, Prokunina-Olsson L, Sterba KA et al (2007) Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. Genes Immun 8:279-287
25. Zhang Z, Zhu KJ, Xu Q et al (2010) The association of the BLK gene with SLE was replicated in Chinese Han. Arch Dermatol Res 302:619-624
26. CF He, Liu YS, Cheng YL et al (2010) TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population. Lupus 19:1181-1186
27. Dodds AW, Law SK (1990) The complement component C4 of mammals. Biochem J 265:495-502
28. Martinez OP, Longman-Jacobsen N, Davies R et al (2001) Genetics of human complement component C4 and evolution the central MHC. Front Biosci 6:D904-D913
29. Asherson RA, Batchelor JR, Krausz T, Hughes GR (1987) Hypocomplementaemic urticarial vasculitis, angio-oedema and 'lupus-like' disease: association with C4B null allele. Clin Exp Rheumatol 5:161-164
30. Odell D, Maciulis A, Cutler A et al (2005) Confirmation of the association of the C4B null allelle in autism. Hum Immunol 66:140-145
31. Christiansen FT, Dawkins RL, Uko G et al (1983) Complement allotyping in SLE: association with C4A null. Aust N Z J Med 13:483-488
32. Traustadottir KH, Sigfusson A, Steinsson K, Erlendsson K (2002) C4A deficiency and elevated level of immune complexes: the mechanism behind increased susceptibility to systemic lupus erythematosus. J Rheumatol 29:2359-2366
33. Welch TR, Brickman C, Bishof N et al (1998) The phenotype of SLE associated with complete deficiency of complement isotype C4A. J Clin Immunol 18:48-51
34. Gilliam BE, Wolff AE, Moore TL (2007) Partial C4 deficiency in juvenile idiopathic arthritis patients. J Clin Rheumatol 13:256-260
35. van Zeben D, Giphart MJ, Christiansen FT et al (1992) Properdin factor B and complement factor C4 allotypes in rheumatoid arthritis: results of a follow-up study. Hum Immunol 33:148-151