Journal article

Investigation of the HIN200 Locus in UK SLE Families Identifies Novel Copy Number Variants

Michelle MA Fernando, Adam J de Smith, Lachlan Coin, David L Morris, Philippe Froguel, Jonathan Mangion, Alexandra IF Blakemore, Robert R Graham, Timothy W Behrens, Timothy J Vyse

ANNALS OF HUMAN GENETICS | WILEY-BLACKWELL | Published : 2011

Abstract

We undertook a candidate locus study of the HIN200 gene cluster on 1q21-23 in UK systemic lupus erythematosus (SLE) families. To date, despite mounting evidence demonstrating the importance of these proteins in autoimmune disease, cancer, apoptosis, inflammation, and cell cycle arrest, there has been a dearth of data with respect to the genetic characterisation of the HIN200 locus in SLE or any other disease. We typed 83 single nucleotide polymorphisms (SNPs) across 317 kb of the HIN200 cluster in 428 UK SLE families and sought replication from a European-American lupus cohort. We do not find strong evidence of SNP association in either cohort. Interestingly, we do observe a trend for associ..

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University of Melbourne Researchers

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Funding Acknowledgements

TJV was funded through a Wellcome Trust Senior Fellowship and MMAF was funded through a Clinical Research Fellowship from Arthritis Research UK. The Broad Institute Centre for Genotyping and Analysis is supported by Grant U54 RR020278 from the National Centre for Research Resources. This study makes use of data generated by the Genome Structural Variation Consortium (PIs Nigel Carter, Matthew Hurles, Charles Lee and Stephen Scherer) whom we thank for pre-publication access to their CNV discovery and genotyping data, made available through the websites http://www.sanger.ac.uk/humgen/cnv/42mio/ and http://projects.tcag.ca/variation/ as a resource to the community. Funding for the project was provided by the Wellcome Trust [Grant No. 077006/Z/05/Z], Canada Foundation of Innovation and Ontario Innovation Trust, Canadian Institutes of Health Research, Genome Canada/Ontario Genomics Institute, the McLaughlin Centre for Molecular Medicine, Ontario Ministry of Research and Innovation, the Hospital for Sick Children Foundation, the Department of Pathology at Brigham and Women's Hospital and the National Institutes of Health grants HG004221 and GM081533.