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Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population

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Abstract

The aim of this study was to evaluate whether two single-nucleotide polymorphisms (SNPs), AF4/FMR2 family, member 1 (AFF1) rs340630 and AF4/FMR2 family, member 3 (AFF3) rs10865035, show significant evidence for association with systemic lupus erythematosus (SLE) in a Chinese population. A total of 868 Chinese patients with SLE and 975 geographically and ethnically matched healthy control subjects were enrolled in the current study. The genotypes of these two SNPs were determined by Sequenom MassArray technology. Significant evidence for association of AFF3 rs10865035 with SLE was detected (for A versus G, P = 4.81 × 10−4, odds ratio (OR) 1.26, 95 % confidence interval (95 %CI) 1.11–1.44). However, no association between AFF1 rs340630 and SLE was found in the Chinese population (for A versus G, P = 0.79, OR 0.98, 95 %CI 0.86–1.12). No significant evidence for association of AFF3 rs10865035 polymorphism with any clinical features was detected. By targeting a variant with convincing evidence for association with rheumatoid arthritis, significant association of AFF3 rs10865035 with SLE was detected in the Chinese population, indicating that AFF3 might be a common autoimmunity gene. Further case-control studies based on larger sample sizes in diverse ethnic populations are required to clarify the role of AFF1 rs340630 in SLE.

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References

  • Barton A, Eyre S, Ke X, Hinks A, Bowes J, Flynn E, Martin P, YEAR Consortium, BIRAC Consortium, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J (2009) Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. Hum Mol Genet 18:2518–2522

    Article  PubMed  CAS  Google Scholar 

  • Freudenberg J, Lee HS, Han BG, Shin HD, Kang YM, Sung YK, Shim SC, Choi CB, Lee AT, Gregersen PK, Bae SC (2011) Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. Arthritis Rheum 63:884–893

    Article  PubMed  CAS  Google Scholar 

  • Graham RR, Hom G, Ortmann W, Behrens TW (2009) Review of recent genome-wide association scans in lupus. J Intern Med 265:680–688

    Article  PubMed  CAS  Google Scholar 

  • Gregersen PK, Olsson LM (2009) Recent advances in the genetics of autoimmune disease. Annu Rev Immunol 27:363–391

    Article  PubMed  CAS  Google Scholar 

  • Hinks A, Eyre S, Ke X, Barton A, Martin P, Flynn E, Packham J, Worthington J, Childhood Arthritis Prospective Study; UKRAG Consortium; BSPAR Study Group, Thomson W (2010) Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. Genes Immun 11:194–198

    Article  PubMed  CAS  Google Scholar 

  • Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40:1725

    Article  PubMed  CAS  Google Scholar 

  • Kraft P (2008) Curses—winner's and otherwise—in genetic epidemiology. Epidemiology 19:649–651, discussion 657–658

    Article  PubMed  Google Scholar 

  • Ma C, Staudt LM (1996) LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias. Blood 87:734–745

    PubMed  CAS  Google Scholar 

  • Okada Y, Shimane K, Kochi Y, Tahira T, Suzuki A, Higasa K, Takahashi A, Horita T, Atsumi T, Ishii T, Okamoto A, Fujio K, Hirakata M, Amano H, Kondo Y, Ito S, Takada K, Mimori A, Saito K, Kamachi M, Kawaguchi Y, Ikari K, Mohammed OW, Matsuda K, Terao C, Ohmura K, Myouzen K, Hosono N, Tsunoda T, Nishimoto N, Mimori T, Matsuda F, Tanaka Y, Sumida T, Yamanaka H, Takasaki Y, Koike T, Horiuchi T, Hayashi K, Kubo M, Kamatani N, Yamada R, Nakamura Y, Yamamoto K (2012) A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. PLoS Genet 8:e1002455

    Article  PubMed  CAS  Google Scholar 

  • Plant D, Flynn E, Mbarek H, Dieudé P, Cornelis F, Arlestig L, Dahlqvist SR, Goulielmos G, Boumpas DT, Sidiropoulos P, Johansen JS, Ørnbjerg LM, Hetland ML, Klareskog L, Filer A, Buckley CD, Raza K, Witte T, Schmidt RE, Worthington J (2010) Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers. Ann Rheum Dis 69:1548–1553

    Article  PubMed  CAS  Google Scholar 

  • Ramos PS, Criswell LA, Moser KL, Comeau ME, Williams AH, Pajewski NM, Chung SA, Graham RR, Zidovetzki R, Kelly JA, Kaufman KM, Jacob CO, Vyse TJ, Tsao BP, Kimberly RP, Gaffney PM, Alarcón-Riquelme ME, Harley JB, Langefeld CD, International Consortium on the Genetics of Systemic Erythematosus (2011) A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. PLoS Genet 7:e1002406

    Article  PubMed  CAS  Google Scholar 

  • Stahl EA, Raychaudhuri S, Remmers EF, Xie G, Eyre S, Thomson BP, Li Y, Kurreeman FA, Zhernakova A, Hinks A, Guiducci C, Chen R, Alfredsson L, Amos CI, Ardlie KG, Consortium BIRAC, Barton A, Bowes J, Brouwer E, Burtt NP, Catanese JJ, Coblyn J, Coenen MJ, Costenbader KH, Criswell LA, Crusius JB, Cui J, de Bakker PI, De Jager PL, Ding B, Emery P, Flynn E, Harrison P, Hocking LJ, Huizinga TW, Kastner DL, Ke X, Lee AT, Liu X, Martin P, Morgan AW, Padyukov L, Posthumus MD, Radstake TR, Reid DM, Seielstad M, Seldin MF, Shadick NA, Steer S, Tak PP, Thomson W, van der Helm-van Mil AH, van der Horst-Bruinsma IE, van der Schoot CE, van Riel PL, Weinblatt ME, Wilson AG, Wolbink GJ, Wordsworth BP, Consortium YEAR, Wijmenga C, Karlson EW, Toes RE, de Vries N, Begovich AB, Worthington J, Siminovitch KA, Gregersen PK, Klareskog L, Plenge RM (2010) Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet 42:508–514

    Article  PubMed  CAS  Google Scholar 

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Acknowledgments

This work was supported by the National Natural Science Foundation (30830089, 81172764) and the Specialized Research Fund for the Doctoral Program of Higher Education of China (20113420110005).

Conflict of interests

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, People’s Republic of China

    Han Cen, Rui-Xue Leng, Wei Wang, Mo Zhou, Chen-Chen Feng, Gui-Mei Chen, Rui Li, Hai-Feng Pan & Dong-Qing Ye

  2. Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, People’s Republic of China

    Han Cen, Rui-Xue Leng, Wei Wang, Mo Zhou, Chen-Chen Feng, Gui-Mei Chen, Rui Li, Hai-Feng Pan & Dong-Qing Ye

  3. Department of Rheumatology, Anhui Provincial Hospital, 17 Lujiang Road, Hefei, Anhui, 230001, People’s Republic of China

    Xiang-Pei Li

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  1. Han Cen
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  2. Rui-Xue Leng
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  3. Wei Wang
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  8. Hai-Feng Pan
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  9. Xiang-Pei Li
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  10. Dong-Qing Ye
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Correspondence to Dong-Qing Ye.

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Cen, H., Leng, RX., Wang, W. et al. Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population. Immunogenetics 64, 935–938 (2012). https://doi.org/10.1007/s00251-012-0650-0

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  • DOI: https://doi.org/10.1007/s00251-012-0650-0

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