File(s) not publicly available
Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene
journal contribution
posted on 2023-06-08, 17:10 authored by Sergey Nejentsev, Lisa Godfrey, Hywel Snook, Helen Rance, Sarah Nutland, Neil M Walker, Alex C Lam, Cristian Guja, Constantin Ionescu-Tirgoviste, Dag E Undlien, Kjersti S Rønningen, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Melanie J Newport, David G Clayton, John A ToddA genome-wide map of single nucleotide polymorphisms (SNP) and a pattern of linkage disequilibrium (LD) between their alleles are being established in three main ethnic groups. An important question is the applicability of such maps to different populations within a main ethnic group. Therefore, we have developed high-resolution SNP, haplotype and LD maps of vitamin D receptor gene region in large samples from five populations. Comparative analysis reveals that the LD patterns are identical in all four European populations tested with two small regions of 1.3 and 5.7 kb at which LD is disrupted completely resulting in three block-like regions over which there is significant and extensive LD. In an African population the pattern is similar, but two additional LD-breaking spots are also apparent. This LD pattern suggests combined action of recombination hotspots and founder effects, but cannot be explained by random recombination and genetic drift alone. Direct comparison indicates that the tag SNPs selected in one European population effectively predict the non-tag SNPs in the other Europeans, but not in the Gambians, for this region.
History
Publication status
- Published
Journal
Human Molecular GeneticsISSN
0964-6906Publisher
Oxford University PressExternal DOI
Issue
15Volume
13Page range
1633-9Department affiliated with
- Global Health and Infection Publications
Full text available
- No
Peer reviewed?
- Yes
Legacy Posted Date
2014-05-09Usage metrics
Categories
No categories selectedKeywords
Licence
Exports
RefWorks
BibTeX
Ref. manager
Endnote
DataCite
NLM
DC