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A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans

BACKGROUND: Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to have evolved by gene duplication event and a...

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Autores principales: Pandit, Bhaswati, Ahn, Gwang-Sook, Hazard, Starr E, Gordon, Derek, Patel, Shailendra B
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1413519/
https://www.ncbi.nlm.nih.gov/pubmed/16507104
http://dx.doi.org/10.1186/1471-2350-7-13
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author Pandit, Bhaswati
Ahn, Gwang-Sook
Hazard, Starr E
Gordon, Derek
Patel, Shailendra B
author_facet Pandit, Bhaswati
Ahn, Gwang-Sook
Hazard, Starr E
Gordon, Derek
Patel, Shailendra B
author_sort Pandit, Bhaswati
collection PubMed
description BACKGROUND: Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to have evolved by gene duplication event and are arranged in a head-to-head configuration. We report here a detailed characterization of the STSL in Caucasian and African-American cohorts. METHODS: Caucasian and African-American DNA samples were genotypes for polymorphisms at the STSL locus and haplotype structures determined for this locus RESULTS: In the Caucasian population, 13 variant single nucleotide polymorphisms (SNPs) were identified and resulting in 24 different haplotypes, compared to 11 SNPs in African-Americans resulting in 40 haplotypes. Three polymorphisms in ABCG8 were unique to the Caucasian population (E238L, INT10-50 and G575R), whereas one variant (A259V) was unique to the African-American population. Allele frequencies of SNPs varied also between these populations. CONCLUSION: We confirmed that despite their close proximity to each other, significantly more variations are present in ABCG8 compared to ABCG5. Pairwise D' values showed wide ranges of variation, indicating some of the SNPs were in strong linkage disequilibrium (LD) and some were not. LD was more prevalent in Caucasians than in African-Americans, as would be expected. These data will be useful in analyzing the proposed role of STSL in processes ranging from responsiveness to cholesterol-lowering drugs to selective sterol absorption.
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spelling pubmed-14135192006-04-14 A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans Pandit, Bhaswati Ahn, Gwang-Sook Hazard, Starr E Gordon, Derek Patel, Shailendra B BMC Med Genet Research Article BACKGROUND: Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to have evolved by gene duplication event and are arranged in a head-to-head configuration. We report here a detailed characterization of the STSL in Caucasian and African-American cohorts. METHODS: Caucasian and African-American DNA samples were genotypes for polymorphisms at the STSL locus and haplotype structures determined for this locus RESULTS: In the Caucasian population, 13 variant single nucleotide polymorphisms (SNPs) were identified and resulting in 24 different haplotypes, compared to 11 SNPs in African-Americans resulting in 40 haplotypes. Three polymorphisms in ABCG8 were unique to the Caucasian population (E238L, INT10-50 and G575R), whereas one variant (A259V) was unique to the African-American population. Allele frequencies of SNPs varied also between these populations. CONCLUSION: We confirmed that despite their close proximity to each other, significantly more variations are present in ABCG8 compared to ABCG5. Pairwise D' values showed wide ranges of variation, indicating some of the SNPs were in strong linkage disequilibrium (LD) and some were not. LD was more prevalent in Caucasians than in African-Americans, as would be expected. These data will be useful in analyzing the proposed role of STSL in processes ranging from responsiveness to cholesterol-lowering drugs to selective sterol absorption. BioMed Central 2006-02-28 /pmc/articles/PMC1413519/ /pubmed/16507104 http://dx.doi.org/10.1186/1471-2350-7-13 Text en Copyright © 2006 Pandit et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Pandit, Bhaswati
Ahn, Gwang-Sook
Hazard, Starr E
Gordon, Derek
Patel, Shailendra B
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
title A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
title_full A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
title_fullStr A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
title_full_unstemmed A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
title_short A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
title_sort detailed hapmap of the sitosterolemia locus spanning 69 kb; differences between caucasians and african-americans
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1413519/
https://www.ncbi.nlm.nih.gov/pubmed/16507104
http://dx.doi.org/10.1186/1471-2350-7-13
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