TY - JOUR
T1 - Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene
AU - Nejentsev, Sergey
AU - Godfrey, Lisa
AU - Snook, Hywel
AU - Rance, Helen
AU - Nutland, Sarah
AU - Walker, Neil M
AU - Lam, Alex C
AU - Guja, Cristian
AU - Ionescu-Tirgoviste, Constantin
AU - Undlien, Dag E
AU - Rønningen, Kjersti S
AU - Tuomilehto-Wolf, Eva
AU - Tuomilehto, Jaakko
AU - Newport, Melanie J
AU - Clayton, David G
AU - Todd, John A
PY - 2004/8/1
Y1 - 2004/8/1
N2 - A 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.
AB - A 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.
KW - Chromosomes, Human, Pair 12
KW - Gambia
KW - Humans
KW - Linkage Disequilibrium
KW - Polymorphism, Single Nucleotide
KW - Receptors, Calcitriol/genetics
KW - United Kingdom
U2 - https://doi.org/10.1093/hmg/ddh169
DO - https://doi.org/10.1093/hmg/ddh169
M3 - Article
C2 - 15175274
SN - 0964-6906
VL - 13
SP - 1633
EP - 1639
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 15
ER -