Population analysis of vitamin D receptor polymorphisms and the role of genetic ancestry in an admixed population

The vitamin D receptor (VDR) is an essential protein related to bone metabolism. Some VDR alleles are differentially distributed among ethnic populations and display variable patterns of linkage disequilibrium (LD). In this study, 200 unrelated Brazilians were genotyped using 21 VDR single nucleotid...

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Bibliographic Details
Published in:Genetics and molecular biology 2011-01, Vol.34 (3), p.377-385
Main Authors: Lins, Tulio C, Vieira, Rodrigo G, Grattapaglia, Dario, Pereira, Rinaldo W
Format: Article
Language:English
Subjects:
BIOCHEMISTRY & MOLECULAR BIOLOGY
Brazilian population
GENETICS & HEREDITY
haplotype
HapMap
Human and Medical Genetics
population diversity
VDR
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Summary:The vitamin D receptor (VDR) is an essential protein related to bone metabolism. Some VDR alleles are differentially distributed among ethnic populations and display variable patterns of linkage disequilibrium (LD). In this study, 200 unrelated Brazilians were genotyped using 21 VDR single nucleotide polymorphisms (SNPs) and 28 ancestry informative markers. The patterns of LD and haplotype distribution were compared among Brazilian and the HapMap populations of African (YRI), European (CEU) and Asian (JPT+CHB) origins. Conditional regression and haplotype-specific analysis were performed using estimates of individual genetic ancestry in Brazilians as a quantitative trait. Similar patterns of LD were observed in the 5' and 3' gene regions. However, the frequency distribution of haplotype blocks varied among populations. Conditional regression analysis identified haplotypes associated with European and Amerindian ancestry, but not with the proportion of African ancestry. Individual ancestry estimates were associated with VDR haplotypes. These findings reinforce the need to correct for population stratification when performing genetic association studies in admixed populations.
ISSN:1415-4757
1678-4685
1678-4685
1415-4757
DOI:10.1590/s1415-47572011000300003