PMID- 15993717 OWN - NLM STAT- MEDLINE DCOM- 20051018 LR - 20081121 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 66 IP - 6 DP - 2005 Jun TI - Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects. PG - 716-20 AB - Matrix metalloproteinases (MMPs), such as stromelysin-1 (MMP-3), are a family of enzymes important in resorption and remodeling of the extracellular matrix whose degradation may play a role in the villous atrophy characteristic of celiac disease (CD). We investigated the association between the polymorphism at position -1171 of the MMP-3 gene and susceptibility to CD in 225 Italian patients and 170 controls previously typed for human leukocyte antigen (HLA) class II genes. We also evaluated sex differences in the effect of this polymorphism on disease risk. A male-specific association of the 5A/6A polymorphism with CD was observed. The frequencies of 6A allele and 6A/6A genotype in affected male subjects were significantly above those observed both in male controls (p = 4.1 x 10(-3) and p = 3.4 x 10(-3); odds ratio = 2.4, 95% confidence interval 1.3-4.3) and in female patients (p = 2.7 x 10(-4) and p = 6.2 x 10(-4)). This is the first demonstration of a sex-specific association between the MMP-3 promoter polymorphism and CD. Homozygosity for the 6A allele appears as a risk factor for CD only in men, which is different from the HLA susceptibility alleles that confer a higher risk in women. FAU - Mora, Barbara AU - Mora B AD - Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Rome, Italy. FAU - Bonamico, Margherita AU - Bonamico M FAU - Ferri, Mirella AU - Ferri M FAU - Megiorni, Francesca AU - Megiorni F FAU - Osborn, John AU - Osborn J FAU - Pizzuti, Antonio AU - Pizzuti A FAU - Mazzilli, Maria Cristina AU - Mazzilli MC LA - eng PT - Journal Article DEP - 20050318 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (HLA-DQ Antigens) RN - EC 3.4.24.17 (Matrix Metalloproteinase 3) SB - IM MH - Case-Control Studies MH - Celiac Disease/enzymology/*genetics/physiopathology MH - Female MH - Gene Frequency MH - *Genetic Predisposition to Disease MH - Genotype MH - HLA-DQ Antigens/genetics MH - Humans MH - Male MH - Matrix Metalloproteinase 3/*genetics MH - Polymorphism, Genetic MH - Promoter Regions, Genetic MH - Sex Factors EDAT- 2005/07/05 09:00 MHDA- 2005/10/19 09:00 CRDT- 2005/07/05 09:00 PHST- 2004/09/21 00:00 [received] PHST- 2005/02/07 00:00 [revised] PHST- 2005/02/11 00:00 [accepted] PHST- 2005/07/05 09:00 [pubmed] PHST- 2005/10/19 09:00 [medline] PHST- 2005/07/05 09:00 [entrez] AID - S0198-8859(05)00050-9 [pii] AID - 10.1016/j.humimm.2005.02.005 [doi] PST - ppublish SO - Hum Immunol. 2005 Jun;66(6):716-20. doi: 10.1016/j.humimm.2005.02.005. Epub 2005 Mar 18.