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Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus

AuthorsHughes, T.; Adler, A. J.; Merrill, J. T.; Kelly, J. A.; Kaufman, K. M.; Williams, A. H.; Langefeld, C. D.; Gilkeson, G. S.; Sánchez, Elena; Martín, J.; Boackle, S. A.; Stevens, A. M.; Alarcón, G. S.; Niewold, T. B.; Brown, E. E.; Kimberly, R. P.; Edberg, J. C.; Ramsey-Goldman, R.; Petri, M.; Reveille, J. D.; Criswell, L. A.; Vilá, Luis M.; Jacob, C. O.; Gaffney, P. M.; Moser, K. L.; Vyse, T. J.; Alarcón-Riquelme, M. E.; James, J. A.; Tsao, B. P.; Scofield, R. H.; Harley, J. B.; Richardson, B. C.; Sawalha, A. H.; Frostegård, J.; Truedsson, L.; Ramón, Enrique de; Sabio, José Mario; González-Escribano, María Francisca; Ortego-Centeno, N.; Callejas-Rubio, J. L.; Sánchez-Román, J.; D'Alfonso, S.; Migliarese, S.; Sebastiani, G. D.; Galeazzi, M.; Witte, Torsten; Lauwerys, B. R.; Endreffy, E.; Kovács, L.; Vasconcelos, C.; Silva, B. M. da
Issue Date2012
PublisherBMJ Publishing Group
CitationAnnals of the Rheumatic Diseases 71: 694- 699 (2012)
AbstractObjectives: Systemic lupus erythematosus (SLE) is a sexually dimorphic autoimmune disease which is more common in women, but affected men often experience a more severe disease. The genetic basis of sexual dimorphism in SLE is not clearly defined. A study was undertaken to examine sex-specific genetic effects among SLE susceptibility loci. Methods: A total of 18 autosomal genetic susceptibility loci for SLE were genotyped in a large set of patients with SLE and controls of European descent, consisting of 5932 female and 1495 male samples. Sex-specific genetic association analyses were performed. The sex-gene interaction was further validated using parametric and non-parametric methods. Aggregate differences in sex-specific genetic risk were examined by calculating a cumulative genetic risk score for SLE in each individual and comparing the average genetic risk between male and female patients. Results: A significantly higher cumulative genetic risk for SLE was observed in men than in women. (P=4.52x10 -8) A significant sex-gene interaction was seen primarily in the human leucocyte antigen (HLA) region but also in IRF5, whereby men with SLE possess a significantly higher frequency of risk alleles than women. The genetic effect observed in KIAA1542 is specific to women with SLE and does not seem to have a role in men. Conclusions: The data indicate that men require a higher cumulative genetic load than women to develop SLE. These observations suggest that sex bias in autoimmunity could be influenced by autosomal genetic susceptibility loci.
Identifiersdoi: 10.1136/annrheumdis-2011-200385
issn: 0003-4967
Appears in Collections:(IPBLN) Artículos
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