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Analysis of high-density SNP data from complex populations

หน่วยงาน Edinburgh Research Archive, United Kingdom

รายละเอียด

ชื่อเรื่อง : Analysis of high-density SNP data from complex populations
นักวิจัย : Floyd, James A.B.
คำค้น : GWAS , genome-wide association study , haplotype analysis
หน่วยงาน : Edinburgh Research Archive, United Kingdom
ผู้ร่วมงาน : Haley, Chris , Knott, Sara , Biotechnology and Biological Sciences Research Council (BBSRC)
ปีพิมพ์ : 2554
อ้างอิง : http://hdl.handle.net/1842/4926
ที่มา : -
ความเชี่ยวชาญ : -
ความสัมพันธ์ : Vitart, V., Rudan, I., Hayward, C., Gray, N. K., Floyd, J., Palmer, C. N., Knott, S. A., Kolcic, I., Polasek, O., Graessler, J., Wilson, J. F., Marinaki, A., Riches, P. L., Shu, X., Janicijevic, B., Smolej-Narancic, N., Gorgoni, B., Morgan, J., Campbell, S., Biloglav, Z., Barac-Lauc, L., Pericic, M., Klaric, I. M., Zgaga, L., Skaric-Juric, T., Wild, S. H., Richardson, W. A., Hohenstein, P., Kimber, C. H., Tenesa, A., Donnelly, L. A., Fairbanks, L. D., Aringer, M., McKeigue, P. M., Ralston, S. H., Morris, A. D., Rudan, P., Hastie, N. D, Campbell, H. and Wright, A. F. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nature Genetics, 40(4):437-442
ขอบเขตของเนื้อหา : -
บทคัดย่อ/คำอธิบาย :

Data from a Croatian isolate population are analysed in a genome-wide association study (GWAS) for a variety of disease-related quantitative traits. A novel genomewide approach to analysing pedigree-based association data called GRAMMAR is utilised. One of the significant findings, for uric acid, is followed up in greater detail, and is replicated in another isolate population, from Orkney. The associated SNPs are located in the SLC2A9 gene, coding for a known glucose transporter, which leads to identification of SLC2A9 as a urate transporter too (Vitart et al., 2008). These SNPs are later implicated in affecting gout, a disease known to be linked with high serum uric acid levels, in an independent study (Dehghan et al., 2008). Subsequently, investigation into different ways in which to use SNP data to identify quantitative trait loci (QTL) for genome-wide association (GWA) studies is performed. Several multi-marker approaches are compared to single SNP analysis using simulated phenotypes and real genotype data, and results show that for rare variants haplotype analysis is the most effective method of detection. Finally, the multi-marker methods are compared with single SNP analysis on the real uric acid data. Interpretation of real data results was complicated due to low sample size, since only founder and unrelated individuals may be used for population-based haplotype analysis, nonetheless, results of the prior analyses of simulated data indicate that multi-marker methods, in particular haplotypes, may greatly facilitate detection of QTL with low minor allele frequency in GWA studies.

บรรณานุกรม :
Floyd, James A.B. . (2554). Analysis of high-density SNP data from complex populations.
    กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom .
Floyd, James A.B. . 2554. "Analysis of high-density SNP data from complex populations".
    กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom .
Floyd, James A.B. . "Analysis of high-density SNP data from complex populations."
    กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom , 2554. Print.
Floyd, James A.B. . Analysis of high-density SNP data from complex populations. กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom ; 2554.