Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-04-17

AUTHORS

Rebecca C. J. Twells, Charles A. Mein, Felicity Payne, Riitta Veijola, Matthew Gilbey, Matthew Bright, Andrew Timms, Yusuke Nakagawa, Hywel Snook, Sarah Nutland, Helen E. Rance, Philippa Carr, Frank Dudbridge, Heather J. Cordell, Jason Cooper, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Michael Phillips, Michael Metzker, J. Fred Hess, John A. Todd

ABSTRACT

Linkage of chromosome 11q13 to type 1 diabetes (T1D) was first reported from genome scans (Davies et al. 1994; Hashimoto et al. 1994) resulting in P <2.2×10−5 (Luo et al. 1996) and designated IDDM4 (insulin dependent diabetes mellitus 4). Association mapping under the linkage peak using 12 polymorphic microsatellite markers suggested some evidence of association with a two-marker haplotype, D11S1917*03-H0570POLYA*02, which was under-transmitted to affected siblings and over-transmitted to unaffected siblings (P=1.5×10−6) (Nakagawa et al. 1998). Others have reported evidence for T1D association of the microsatellite marker D11S987, which is approximately 100 kb proximal to D11S1917 (Eckenrode et al. 2000). We have sequenced a 400-kb interval surrounding these loci and identified four genes, including the low-density lipoprotein receptor related protein (LRP5) gene, which has been considered as a functional candidate gene for T1D (Hey et al. 1998; Twells et al. 2001). Consequently, we have developed a comprehensive SNP map of the LRP5 gene region, and identified 95 SNPs encompassing 269 kb of genomic DNA, characterised the LD in the region and haplotypes (Twells et al. 2003). Here, we present our refined linkage curve of the IDDM4 region, comprising 32 microsatellite markers and 12 SNPs, providing a peak MLS=2.58, P=5×10−4, at LRP5 g.17646G>T. The disease association data, largely focused in the LRP5 region with 1,106 T1D families, provided no further evidence for disease association at LRP5 or at D11S987. A second dataset, comprising 1,569 families from Finland, failed to replicate our previous findings at LRP5. The continued search for the variants of the putative IDDM4 locus will greatly benefit from the future development of a haplotype map of the genome. More... »

PAGES

99-105

References to SciGraph publications

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  • Identifiers

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    http://scigraph.springernature.com/pub.10.1007/s00439-003-0940-6

    DOI

    http://dx.doi.org/10.1007/s00439-003-0940-6

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1075271259

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/12700977


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