RGD Reference Report - The MMP1 (-16071G/2G) single nucleotide polymorphism associates with the HAART-related lipodystrophic syndrome. - Rat Genome Database

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The MMP1 (-16071G/2G) single nucleotide polymorphism associates with the HAART-related lipodystrophic syndrome.

Authors: Montes, AH  Valle-Garay, E  Suarez-Zarracina, T  Melon, S  Martinez, E  Carton, JA  Collazos, J  Asensi, V 
Citation: Montes AH, etal., AIDS. 2010 Oct 23;24(16):2499-506. doi: 10.1097/QAD.0b013e32833e922c.
RGD ID: 8549721
Pubmed: PMID:20852404   (View Abstract at PubMed)
DOI: DOI:10.1097/QAD.0b013e32833e922c   (Journal Full-text)

OBJECTIVE: Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) are involved in extracellular matrix remodelling and adipocyte differentiation and are inhibited by antiretrovirals. MMPs and TIMPs and their single nucleotide polymorphisms (SNPs) might contribute to the HAART-related lipodystrophic syndrome pathogenesis. DESIGN AND SETTING: Cross-sectional study in a university-based outpatient clinic. PATIENTS AND METHODS: Two hundred and sixteen HIV-infected patients on extended HAART were studied. Serum MMPs (1, 2, 3, 8, 9, 10, 13) and TIMPs (1, 2, 4) were measured by ELISA microarrays. MMP1 (-16071G/2G) SNP was also genotyped. Lipodystrophic syndrome was diagnosed by a clinical scale validated by fat dual energy X-ray absorptiometry. RESULTS: Eighty-two patients (38.0%) showed lipodystrophic syndrome, mostly lipoatrophy. The 2G/2G MMP1 SNP genotype was more frequent among lipodystrophic syndrome patients (41.3 vs. 20.5%, odds ratio, 2.73; 95% confidence interval, 1.41-5.29; chi(2) = 9.62, P = 0.002 for HIV-infected patients with and without lipodystrophic syndrome respectively). Carriers of this genotype had higher serum levels of MMP1 compared with those with the 1G/1G (P = 0.02). Higher MMP1 (P = 0.022) and lower TIMP4 (P = 0.038) serum levels were observed while comparing HIV patients with and without lipodystrophic syndrome. MMP1 2G carriage (P = 0.0008), TIMP4 lower serum levels (P = 0.02), treatment with stavudine (P < 0.0001), treatment with zidovudine (P = 0.006) and absence of hepatitis C virus coinfection (P = 0.002) were associated with lipodystrophic syndrome by logistic regression. CONCLUSION: MMP1 SNP, which induced increased serum levels of this protein, was associated with lipodystrophic syndrome.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
HIV-Associated Lipodystrophy Syndrome  IAGP 8549721DNA:SNPRGD 
HIV-Associated Lipodystrophy Syndrome  ISOMMP1 (Homo sapiens)8549721; 8549721DNA:SNPRGD 

Objects Annotated

Genes (Rattus norvegicus)
Mmp1  (matrix metallopeptidase 1)

Genes (Mus musculus)
Mmp1a  (matrix metallopeptidase 1a (interstitial collagenase))

Genes (Homo sapiens)
MMP1  (matrix metallopeptidase 1)


Additional Information