Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2-13.1

Allelic association methods are better suited than linkage analysis for mapping of susceptibility genes that confer modest increases in risk in complex diseases. In both family- and population-based association studies, it is very useful to have prior knowledge of all sequence variants and the degre...

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Veröffentlicht in:Human genetics 1999-11, Vol.105 (5), p.418-423
Hauptverfasser: BAIPING ZHANG, HENNEY, A, ERIKSSON, P, HAMSTEN, A, WATKINS, H, SHU YE
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container_end_page 423
container_issue 5
container_start_page 418
container_title Human genetics
container_volume 105
creator BAIPING ZHANG
HENNEY, A
ERIKSSON, P
HAMSTEN, A
WATKINS, H
SHU YE
description Allelic association methods are better suited than linkage analysis for mapping of susceptibility genes that confer modest increases in risk in complex diseases. In both family- and population-based association studies, it is very useful to have prior knowledge of all sequence variants and the degree of linkage disequilibrium in a candidate gene region. In this study, we scanned sequence variants in a 2.2-kb promoter sequence and all 13 exons (totalling 3.3 kb) of the matrix metalloproteinase-9 gene, which is associated with coronary heart disease and a candidate for other diseases involving connective tissue remodelling, such as cancer metastasis. The sequences had a total of ten variable sites, four in the promoter, five in the coding region (three of which alter the amino acid encoded) and one in the 3' untranslated sequence. Sequence inspection suggests that some of the variants will have a functional impact on either level of expression or enzymatic activity. Tight linkage disequilibrium was detected between variants across the entire length of the gene (approximately 9 kb), and frequencies of different haplotypes were determined. The data provide an essential tool for studies of the possible contribution of genetic variation at the matrix metalloproteinase-9 locus to genetically determined susceptibility to a number of important diseases. The results also provide experimental data on the extent of linkage disequilibrium in the general population, which is yet to be resolved.
doi_str_mv 10.1007/s004390051124
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source MEDLINE; SpringerLink Journals - AutoHoldings
subjects 3' Untranslated Regions
Base Sequence
Biological and medical sciences
Chromosomes, Human, Pair 20 - genetics
Classical genetics, quantitative genetics, hybrids
DNA Primers - genetics
Exons
Fundamental and applied biological sciences. Psychology
Gene Frequency
Genetic Variation
Genetics of eukaryotes. Biological and molecular evolution
Haplotypes
Human
Humans
Linkage Disequilibrium
Matrix Metalloproteinase 9 - genetics
Medicin och hälsovetenskap
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
title Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2-13.1
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