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THU0227 Genome-wide association meta-analysis identifies five new loci for systemic lupus erythematosus
  1. A Julià1,
  2. P Carreira2,
  3. R Blanco3,
  4. FJ Lόpez-Longo4,
  5. JJ Pérez-Venegas5,
  6. A Olivé6,
  7. JL Andreu7,
  8. MA Aguirre-Zamorano8,
  9. P Vela9,
  10. JM Nolla10,
  11. JL Marenco de la Fuente11,
  12. A Zea12,
  13. JM Pego13,
  14. M Freire14,
  15. E Díez15,
  16. M Lόpez-Lasanta1,
  17. M Lόpez-Corbeto1,
  18. N Palau1,
  19. R Tortosa1,
  20. E Trallero1,
  21. A Aterido1,
  22. D Absher16,
  23. RM Myers17,
  24. A Fernandez-Nebro18,
  25. S Marsal1
  1. 1Grup de Recerca de Reumatologia, Vall Hebron Research Institute, Barcelona
  2. 2Rheumatology Department, Hospital Universitario 12 de Octubre, Madrid
  3. 3Rheumatology Department, Hospital Universitario Marqués de Valdecilla, Santander
  4. 4Rheumatology Department, Hospital Universitario Gregorio Marañόn, Madrid
  5. 5Rheumatology Department, Hospital del SAS de Jerez de la Frontera, Cádiz
  6. 6Rheumatology Department, Hospital Universitari Germans Trias i Pujol, Badalona
  7. 7Rheumatology Department, Hospital Universitario Puerta de Hierro, Madrid
  8. 8Rheumatology Department, Hospital Universitario Reina Sofía, Cόrdoba
  9. 9Rheumatology Department, Hospital General Universitario de Alicante, Alicante
  10. 10Rheumatology Department, Hospital Universitari de Bellvitge, Barcelona
  11. 11Rheumatology Department, Hospital de Valme, Sevilla
  12. 12Rheumatology Department, Hospital Universitario Ramόn y Cajal, Madrid
  13. 13Rheumatology Department, Hospital do Meixoeiro, Vigo
  14. 14Rheumatology Department, Hospital Universitario A Coruña, A Coruña
  15. 15Rheumatology Department, Hospital Complejo Asistencial Universitario de Leόn, Leόn, Spain
  16. 16Absher Lab
  17. 17Myers Lab, HudsonAlpha Institute for Biotechnology, Huntsville, United States
  18. 18Rheumatology Department, Hospital Regional Universitario de Málaga, Málaga, Spain


Background Recent genome-wide association studies (GWAS) have identified more than 50 loci associated with systemic lupus erythematosus but they explain less than 30% of the heritability of the disease. Meta-analysis including new populations can contribute to identify additional genetic risk factors.

Objectives The aim of the presents study was to identify additional genetic risk loci for SLE.

Methods We performed a meta-analysis using data from a recent large scale GWAS from 4,036 cases and 6,959 controls from Caucasian European ancestry [1] and a newly genotyped cohort of 907 SLE patients and 1,524healthy controls from Spain. Genetic association was tested at the single-marker level using linear regression and at the pathway-level using Fisher's modified method.

Results Combining the two cohorts we identified genome-wide significant association (P<5E-8) at five new loci: three SNPs at intragenic regions and two intergenic loci at chromosomes 7q11.23 (Manhattan plot for chromosome 7 is shown in Figure; new SLE risk region SNPs highlighted in green) and 17q21.31. Several of the new associated genes are functionally associated with B cell regulation. After multiple test correction, B Cell Receptor signaling, Biopeptides and Cell surface interactions at the vascular wall pathways were also significantly associated with SLE risk.

Conclusions In conclusion, we have identified five new risk loci for SLE through a meta-analysis including a new GWAS.


  1. Bentham J, Morris DL et al. Nature Genetics 2015.


Acknowledgements We would like to thank the clinical researchers and patients participating in the IMID Consortium for their collaboration. We would also like to thank the international SLE consortium for access to the data.

Disclosure of Interest None declared

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