Investigation of the HIN200 locus in UK SLE families identifies novel copy number variants

Fernando, Michelle M. A., de Smith, Adam J., Coin, Lachlan, Morris, David L., Froguel, Philippe, Mangion, Jonathan, Blakemore, Alexandra I. F., Graham, Robert R., Behrens, Timothy W. and Vyse, Timothy J. (2011) Investigation of the HIN200 locus in UK SLE families identifies novel copy number variants. Annals of Human Genetics, 75 3: 383-397. doi:10.1111/j.1469-1809.2011.00641.x

Author Fernando, Michelle M. A.
de Smith, Adam J.
Coin, Lachlan
Morris, David L.
Froguel, Philippe
Mangion, Jonathan
Blakemore, Alexandra I. F.
Graham, Robert R.
Behrens, Timothy W.
Vyse, Timothy J.
Title Investigation of the HIN200 locus in UK SLE families identifies novel copy number variants
Journal name Annals of Human Genetics   Check publisher's open access policy
ISSN 0003-4800
Publication date 2011-01-01
Sub-type Article (original research)
DOI 10.1111/j.1469-1809.2011.00641.x
Open Access Status Not Open Access
Volume 75
Issue 3
Start page 383
End page 397
Total pages 15
Place of publication Chichester, West Sussex, United Kingdom
Publisher Wiley-Blackwell
Language eng
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 association with certain HIN200 SNPs and serologic subphenotypes in UK SLE that parallels the association of lupus antibodies with the orthologous murine locus. Furthermore, we find the HIN200 locus to be unexpectedly complex in terms of genetic structural organisation. We have identified a number of copy number variants (CNVs) in this region in healthy French males, HapMap samples, and UK SLE families. In summary, candidate interferon signalling genes show evidence of common CNV in human SLE and healthy subjects. The impact of these CNVs in health and disease remains to be determined. © 2011 The Authors Annals of Human Genetics
Keyword Copy number variation
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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