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Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus

Abstract

A genetic contribution to the development of systemic lupus erythematosus (SLE) is well established. Several genome-wide linkage scans have identified a number of putative susceptibility loci for SLE, some of which have been replicated in independent samples. This study aimed to identify the regions showing the most consistent evidence for linkage by applying the genome scan meta-analysis (GSMA) method. The study identified two genome-wide suggestive regions on 6p21.1–q15 and 20p11–q13.13 (P-value=0.0056 and P-value=0.0044, respectively) and a region with P-value<0.01 on 16p13–q12.2.

The region on chromosome 6 contains the human leukocyte antigen cluster, and the chromosome 16 and 20 regions have been replicated in several cohorts. The potential importance of the identified genomic regions are also highlighted. These results, in conjunction with data emerging from dense single nucleotide polymorphism typing of specific regions or future genome-wide association studies will help guide efforts to identify the actual predisposing genetic variation contributing to this complex genetic disease.

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Acknowledgements

This research was supported by the UK Medical Research Council (G0400960 to CML), the NIH (K24 AR02175) and Mary Kirkland Scholar Award to LAC, the Swedish Research Council, Gustaf Vth:80 years Jubilee, the Swedish Association Against Rheumatism, Magnus Borgströms Foundation and Magnus Bergvalls Foundation to MEAR, the NIH (RO1AR43814) to BPT, the US Department of Veterans Affairs, Mary Kirkland Scholar Award, Alliance for Lupus Research and NIH (AR12253, AR42460, AI24717, AR048940, AR049084, RR020143) to JBH. Data from the Lupus Multiplex Registry and Repository (AR12253) was used in these studies.

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Correspondence to L A Criswell.

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Forabosco, P., Gorman, J., Cleveland, C. et al. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun 7, 609–614 (2006). https://doi.org/10.1038/sj.gene.6364338

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