Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: Association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese

Rheumatology

Volumn 50, Issue 3, 2011, Pages 473-480

  Guan, Ming ^a,b   Yu, Bo ^c,d   Wan, Jun ^d,e   Zhang, Xinju ^a   Wu, Zhiyuan ^a   Zhong, Qili ^c   Zhang, Wei ^e,f   Zou, Hejian ^b  

^a Central Laboratory   (China)

^b FUDAN UNIVERSITY   (China)

^c PEKING UNIVERSITY SHENZHEN HOSPITAL   (China)

^d Biomedical Research Institute   (China)

^e HONG KONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Hong Kong)

^f JINAN UNIVERSITY   (China)

Author keywords

BANK1; High resolution melting; Single nucleotide polymorphism; SLE

Indexed keywords

ADAPTOR PROTEIN; ANTINUCLEAR ANTIBODY; AUTOANTIBODY; B CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEAT 1; DOUBLE STRANDED DNA ANTIBODY; LA ANTIBODY; RIBONUCLEOPROTEIN ANTIBODY; RO ANTIBODY; SM ANTIBODY; UNCLASSIFIED DRUG;

ADULT; ANTIBODY PRODUCTION; ANTIBODY RESPONSE; ANTIBODY TITER; ARTICLE; ASSAY; CHINESE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HIGH RESOLUTION MELTING ASSAY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; AUTOANTIBODIES; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPING TECHNIQUES; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79952022034     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/keq353     Document Type: Article

References (35)

1. Hopkinson ND, Doherty M, Powell RJ. Clinical features and race-specific incidence/prevalence rates of systemic lupus erythematosus in a geographically complete cohort of patients. Ann Rheum Dis 1994;53:675-80.
2. Lau CS, Yin G, Mok MY. Ethnic and geographical differences in systemic lupus erythematosus: an overview. Lupus 2006;15:715-9.
3. Zeng QY, Chen R, Darmawan J et al. Rheumatic diseases in China. Arthritis Res Ther 2008;10:R17.
4. Danchenko N, Satia JA, Anthony MS. Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Lupus 2006;15:308-18.
5. Sestak AL, Shaver TS, Moser KL et al. Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree. J Rheumatol 1999;26:1495-9.
6. Block SR. A brief history of twins. Lupus 2006;15:61-4.
7. Graham RR, Kyogoku C, Sigurdsson S et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci USA 2007;104:6758-63.
8. Hom G, Graham RR, Modrek B et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008;358:900-9.
9. Nath SK, Han S, Kim-Howard X et al. A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet 2008;40:152-4.
10. Kozyrev SV, Abelson AK, Wojcik J et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008;40: 211-6.
11. Sawalha AH, Webb R, Han S et al. Common variants within MECP2 confer risk of systemic lupus erythematosus. PLoS One 2008;3:e1727.
12. Cunninghame Graham DS, Graham RR, Manku H et al. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 2008;40:83-9.
13. Graham RR, Cotsapas C, Davies L et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008;40:1059-61.
14. Grumet FC, Coukell A, Bodmer JG et al. Histocompatibility (HL-A) antigens associated with systemic lupus erythematosus. A possible genetic predisposition to disease. N Engl J Med 1971;285:193-6.
15. Harley JB, Alarcó n-Riquelme ME, Criswell LA et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008; 40:204-10.
16. Jordan MS, Singer AL, Koretzky GA. Adaptors as central mediators of signal transduction in immune cells. Nat Immunol 2003;4:110-6.
17. Kurosaki T. Regulation of B-cell signal transduction by adaptor proteins. Nat Rev Immunol 2002;2:354-63.
18. Yokoyama K, Su Ih IH, Tezuka T et al. BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor. EMBO J 2002; 21:83-92.
19. Aiba Y, Yamazaki T, Okada T et al. BANK negatively regulates Akt activation and subsequent B cell responses. Immunity 2006;24:259-68.
20. Yang W, Ng P, Zhao M et al. Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 2009;10:219-26.
21. Erali M, Palais R, Wittwer C. SNP genotyping by unlabeled probe melting analysis. Methods Mol Biol 2008;429: 199-206.
22. De Leeneer K, Coene I, Poppe B et al. Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden. J Mol Diagn 2009; 11:415-9.
23. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40: 1725.
24. Chang YK, Yang W, Zhao M et al. Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 2009;10:414-20.
25. Chen J, Zheng H, Bei JX et al. Genetic structure of the Han Chinese population revealed by genome-wide SNP variation. Am J Hum Genet 2009;85:775-85.
26. Paz E, Adawi M, Lavi I et al. Antinuclear antibodies measured by enzyme immunoassay in patients with systemic lupus erythematosus: relation to disease activity. Rheumatol Int 2007;27:941-5.
27. Rueda B, Gourh P, Broen J et al. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. Ann Rheum Dis 2010;69:700-5.
28. Guo L, Deshmukh H, Lu R et al. Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population. Genes Immun 2009;10: 531-8.
29. Han JW, Zheng HF, Cui Y et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet 2009;41:1234-7.
30. Montgomery JL, Sanford LN, Wittwer CT. High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev Mol Diagn 2010;10:219-40.
31. Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M et al. Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene. Invest Ophthalmol Vis Sci 2010;51:2615-9.
32. Zhou L, Wang L, Palais R et al. High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem 2005;51:1770-7.
33. Zhou L, Myers AN, Vandersteen JG et al. Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye. Clin Chem 2004;50:1328-35.
34. Dames S, Pattison DC, Bromley LK et al. Unlabeled probes for the detection and typing of herpes simplex virus. Clin Chem 2007;53:1847-54.
35. Habalová V, Klimcáková L, Zidzik J et al. Rapid and cost effective genotyping method for polymorphisms in PPARG, PPARGC1 and TCF7L2 genes. Mol Cell Probes 2009;23:52-4.