Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis susceptibility and severity

L Jin, M Weisman, G Zhang, M Ward, J Luo, J Bruckel, R Inman, M A Khan, H R Schumacher, W P Maksymowych, M Mahowald, T Martin, J T Rosenbaum, D T Y Yu, M Stone, J Watson, E Dickman, J Davis, J D Reveille

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Abstract

Objective. To study the linkage and association of ankylosing spondylitis (AS) with genotypes for matrix metalloproteinase 3 (MMP3), a gene located at chromosome 11q22.3 and lying within the 101-124 cM region observed in a recent genome-wide scan as a region associated with AS susceptibility. Methods. MMP3 genotypes were examined in 229 pedigrees with AS, 131 sporadic AS cases and 87 Caucasian controls. Eight single-nucleotide polymorphisms (SNPs) were selected and genotyped using Taqman. Non-parametric linkage (NPL) analysis was conducted between the eight MMP3 SNPs and AS using the NPL-all statistic and two-point parametric linkage analysis using GeneHunter Plus. Unrelated AS cases and controls were compared using chi(2) statistics, and family-based controls using the transmission disequilibrium test and pedigree disequilibrium test. Results. None of the eight MMP3 SNPs were significantly associated with AS, either using the 131 sporadic cases alone or in analyses which combined these cases with the 226 unrelated affected AS patients derived from the pedigrees. Analysis of linkage disequilibrium (LD) demonstrated that seven of the eight SNPs studied were in strong LD except for rs626750, which is about 6 kb upstream of the 5' end of the gene. No significant linkage was observed using NPL and LODs in the families. No association was seen of any of the MMP3 SNPs with disease severity (defined by patient functioning), as measured either by the Bath Ankylosing Spondylitis Functional Index or the modified Health Assessment Questionnaire. Conclusion. These data suggest that MMP3 genotypes are not involved in AS susceptibility or severity.
LanguageEnglish
Pages55-60
Number of pages6
JournalRheumatology
Volume44
Issue number1
DOIs
StatusPublished - 2005

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Matrix Metalloproteinase 3
Ankylosing Spondylitis
Genotype
Single Nucleotide Polymorphism
Pedigree
Linkage Disequilibrium
Baths
Genes
Chromosomes
Genome

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Jin, L., Weisman, M., Zhang, G., Ward, M., Luo, J., Bruckel, J., ... Reveille, J. D. (2005). Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis susceptibility and severity. DOI: 10.1093/rheumatology/keh429

Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis susceptibility and severity. / Jin, L; Weisman, M; Zhang, G; Ward, M; Luo, J; Bruckel, J; Inman, R; Khan, M A; Schumacher, H R; Maksymowych, W P; Mahowald, M; Martin, T; Rosenbaum, J T; Yu, D T Y; Stone, M; Watson, J; Dickman, E; Davis, J; Reveille, J D.

In: Rheumatology, Vol. 44, No. 1, 2005, p. 55-60.

Research output: Contribution to journalArticle

Jin, L, Weisman, M, Zhang, G, Ward, M, Luo, J, Bruckel, J, Inman, R, Khan, MA, Schumacher, HR, Maksymowych, WP, Mahowald, M, Martin, T, Rosenbaum, JT, Yu, DTY, Stone, M, Watson, J, Dickman, E, Davis, J & Reveille, JD 2005, 'Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis susceptibility and severity' Rheumatology, vol. 44, no. 1, pp. 55-60. DOI: 10.1093/rheumatology/keh429
Jin, L ; Weisman, M ; Zhang, G ; Ward, M ; Luo, J ; Bruckel, J ; Inman, R ; Khan, M A ; Schumacher, H R ; Maksymowych, W P ; Mahowald, M ; Martin, T ; Rosenbaum, J T ; Yu, D T Y ; Stone, M ; Watson, J ; Dickman, E ; Davis, J ; Reveille, J D. / Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis susceptibility and severity. In: Rheumatology. 2005 ; Vol. 44, No. 1. pp. 55-60
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abstract = "Objective. To study the linkage and association of ankylosing spondylitis (AS) with genotypes for matrix metalloproteinase 3 (MMP3), a gene located at chromosome 11q22.3 and lying within the 101-124 cM region observed in a recent genome-wide scan as a region associated with AS susceptibility. Methods. MMP3 genotypes were examined in 229 pedigrees with AS, 131 sporadic AS cases and 87 Caucasian controls. Eight single-nucleotide polymorphisms (SNPs) were selected and genotyped using Taqman. Non-parametric linkage (NPL) analysis was conducted between the eight MMP3 SNPs and AS using the NPL-all statistic and two-point parametric linkage analysis using GeneHunter Plus. Unrelated AS cases and controls were compared using chi(2) statistics, and family-based controls using the transmission disequilibrium test and pedigree disequilibrium test. Results. None of the eight MMP3 SNPs were significantly associated with AS, either using the 131 sporadic cases alone or in analyses which combined these cases with the 226 unrelated affected AS patients derived from the pedigrees. Analysis of linkage disequilibrium (LD) demonstrated that seven of the eight SNPs studied were in strong LD except for rs626750, which is about 6 kb upstream of the 5' end of the gene. No significant linkage was observed using NPL and LODs in the families. No association was seen of any of the MMP3 SNPs with disease severity (defined by patient functioning), as measured either by the Bath Ankylosing Spondylitis Functional Index or the modified Health Assessment Questionnaire. Conclusion. These data suggest that MMP3 genotypes are not involved in AS susceptibility or severity.",
author = "L Jin and M Weisman and G Zhang and M Ward and J Luo and J Bruckel and R Inman and Khan, {M A} and Schumacher, {H R} and Maksymowych, {W P} and M Mahowald and T Martin and Rosenbaum, {J T} and Yu, {D T Y} and M Stone and J Watson and E Dickman and J Davis and Reveille, {J D}",
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T1 - Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis susceptibility and severity

AU - Jin,L

AU - Weisman,M

AU - Zhang,G

AU - Ward,M

AU - Luo,J

AU - Bruckel,J

AU - Inman,R

AU - Khan,M A

AU - Schumacher,H R

AU - Maksymowych,W P

AU - Mahowald,M

AU - Martin,T

AU - Rosenbaum,J T

AU - Yu,D T Y

AU - Stone,M

AU - Watson,J

AU - Dickman,E

AU - Davis,J

AU - Reveille,J D

N1 - ID number: ISI:000226187300010

PY - 2005

Y1 - 2005

N2 - Objective. To study the linkage and association of ankylosing spondylitis (AS) with genotypes for matrix metalloproteinase 3 (MMP3), a gene located at chromosome 11q22.3 and lying within the 101-124 cM region observed in a recent genome-wide scan as a region associated with AS susceptibility. Methods. MMP3 genotypes were examined in 229 pedigrees with AS, 131 sporadic AS cases and 87 Caucasian controls. Eight single-nucleotide polymorphisms (SNPs) were selected and genotyped using Taqman. Non-parametric linkage (NPL) analysis was conducted between the eight MMP3 SNPs and AS using the NPL-all statistic and two-point parametric linkage analysis using GeneHunter Plus. Unrelated AS cases and controls were compared using chi(2) statistics, and family-based controls using the transmission disequilibrium test and pedigree disequilibrium test. Results. None of the eight MMP3 SNPs were significantly associated with AS, either using the 131 sporadic cases alone or in analyses which combined these cases with the 226 unrelated affected AS patients derived from the pedigrees. Analysis of linkage disequilibrium (LD) demonstrated that seven of the eight SNPs studied were in strong LD except for rs626750, which is about 6 kb upstream of the 5' end of the gene. No significant linkage was observed using NPL and LODs in the families. No association was seen of any of the MMP3 SNPs with disease severity (defined by patient functioning), as measured either by the Bath Ankylosing Spondylitis Functional Index or the modified Health Assessment Questionnaire. Conclusion. These data suggest that MMP3 genotypes are not involved in AS susceptibility or severity.

AB - Objective. To study the linkage and association of ankylosing spondylitis (AS) with genotypes for matrix metalloproteinase 3 (MMP3), a gene located at chromosome 11q22.3 and lying within the 101-124 cM region observed in a recent genome-wide scan as a region associated with AS susceptibility. Methods. MMP3 genotypes were examined in 229 pedigrees with AS, 131 sporadic AS cases and 87 Caucasian controls. Eight single-nucleotide polymorphisms (SNPs) were selected and genotyped using Taqman. Non-parametric linkage (NPL) analysis was conducted between the eight MMP3 SNPs and AS using the NPL-all statistic and two-point parametric linkage analysis using GeneHunter Plus. Unrelated AS cases and controls were compared using chi(2) statistics, and family-based controls using the transmission disequilibrium test and pedigree disequilibrium test. Results. None of the eight MMP3 SNPs were significantly associated with AS, either using the 131 sporadic cases alone or in analyses which combined these cases with the 226 unrelated affected AS patients derived from the pedigrees. Analysis of linkage disequilibrium (LD) demonstrated that seven of the eight SNPs studied were in strong LD except for rs626750, which is about 6 kb upstream of the 5' end of the gene. No significant linkage was observed using NPL and LODs in the families. No association was seen of any of the MMP3 SNPs with disease severity (defined by patient functioning), as measured either by the Bath Ankylosing Spondylitis Functional Index or the modified Health Assessment Questionnaire. Conclusion. These data suggest that MMP3 genotypes are not involved in AS susceptibility or severity.

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JF - Rheumatology

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