The 1G/1G+1G/2G Genotypes of<i>MMP1</i>rs1799750 Are Associated with Higher Levels of MMP-1 and Are Both Associated with Lipodystrophy in People Living with HIV on Antiretroviral Therapy

Silva, Andreia Soares da; Cavalcanti, María Auxiliadora de Queiroz; Belmont, Taciana Furtado de Mendonça; Ximenes, Ricardo Arraes de Alencar; Silva, Aline Vieira da; Nóbrega, Débora Nascimento da; Souza, Roberta dos Santos; Farias, Isabela Cristina Cordeiro; Ó, Kleyton Palmeira do; Vasconcelos, Luydson Richardson Silva; Diniz, George Tadeu Nunes; Miranda-Filho, Demócrito de Barros

doi:10.1089/aid.2020.0237

Cited by 1 publication

(1 citation statement)

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“…Luis Santiago-Ruiz et al, reported that the participants with G/G genotype of rs11646643 polymorphism, had significantly higher plasma levels of MMP2 [ 22 ]. Also, rs1799750 polymorphism was associated with higher expression levels of MMP1 and COPD risk [ 23 , 24 ]. On the other hand, rs243864, rs11646643 of MMP2 , rs3918242, rs3918253 of MMP9 and rs2276109 of MMP12 polymorphisms and the interactions between them, were associated with COPD among Serbians and Mexicans [ 24 , 25 ].…”

Section: Introductionmentioning

confidence: 99%

SNP-SNP positive interaction between MMP2 and MMP12 increases the risk of COPD

Ganbold,

Jamiyansuren,

Munkhzorig

et al. 2024

PLoS ONE

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Determining SNP-SNP interaction of the disease has become important for further investigation of pathogenesis and experimental research. Although many studies have been published on the effect of MMPs gene polymorphisms on chronic obstructive pulmonary disease (COPD), there is a lack of information on SNP-SNP and SNP-environment interactions. This study aimed to investigate the interaction between the polymorphisms of MMP1, MMP2, MMP9 and MMP12 genes and its combined effect with smoking on the risk of developing COPD. Totally 181 COPD patients and 292 healthy individuals were involved. Blood samples from the participants were tested for genotyping and data were collected through questionnaires. Genotyping was performed with nested allele-specific polymerase chain reaction (AS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). SNP-SNP and SNP-environment interactions were investigated using multifactor dimensionality reduction and logistic regression analysis. The result showed that participants with high nicotine dependence and heavy smokers had a higher risk of COPD than non-smokers. Also, G/G genotype (cOR = 5.83; 95% CI, 1.19–28.4, p = 0.029) of MMP2 rs243864 and T/T genotype (cOR = 1.79; 95% CI, 1.16–2.76, p = 0.008) of MMP12 rs652438 independently contributes to the susceptibility of COPD. For SNP-SNP interaction, the positive interaction between rs243864 G/G genotype of MMP2 and rs652438 T/T genotype of MMP12 was found, and the combination of risk genotypes has a high risk of COPD (OR = 12.92; 95% CI, 1.46–114.4, p = 0.021). Moreover, the combination of T/T genotype of MMP12 rs652438 and smoking-related factors increases the risk of COPD approximately 4.5 to 6-fold. The results suggests that there is a combination of MMP2, MMP12, and smoking-related factors may increase the risk of developing COPD.

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