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

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.

The Cumulative Effect of Gene-Gene Interactions Between GSTM1, CHRNA3, CHRNA5 and SOD3 Gene Polymorphisms Combined with Smoking on COPD Risk.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a multifactorial disorder which is affected by external and internal risk factors. People with no external risk factors may be significantly affected and develop pulmonary disease. The study aimed to define gene-gene and gene-environmental effects on COPD. METHODS: A case control study involved 181 COPD patients and 292 healthy individuals, with peripheral blood sampling and adequate questionnaires. Genotyping was done with various types of PCR design for GSTM1 (null del), GSTT1 (null del), EPHX1 (rs2234922 and rs1051740), GSTP1 (rs1695 and rs1138272), CHRNA3 (rs1051730 and rs12914385), CHRNA5 (rs16969968 and rs17486278), and SOD3 (rs1799895 and rs699473) gene polymorphisms. Gene-gene and gene-environmental interactions were investigated using multidimensional regression analysis. RESULTS: Frequency of risk alleles of rs1051730 (p = 0.001), rs16969968 (p <0.001), and rs1799895 (p <0.001) polymorphisms were significant in univariate analysis. For gene-gene interaction, GSTM1 null, rs1051730, rs16969968, and rs1799895 polymorphisms independently contributed to risk of COPD and any combinations of the risk genotypes have a higher risk of disease. A cumulative effect of the four risk polymorphisms increased the risk of COPD for the smoking index (cOR = 13.6, p <0.001), cigarettes per day (cOR = 32.08, p <0.01), nicotine dependence (cOR = 12.0, p <0.01), and smoking status (cOR = 17.02, p <0.01) for gene-environmental interaction. CONCLUSION: Several pivotal genes showed distinct effects for COPD, and some synergistic effects affected the disease progression. The development of COPD was synergistically increased with gene-gene and gene-environmental risk factors.

Prevalence and risk factors associated with human cystic echinococcosis in rural areas, Mongolia.

Cystic echinococcosis is a chronic, complex and neglected zoonotic disease with considerable socio-economic impact on the affected population. Even though Mongolia is included in the list of high cystic echinococcosis risk countries, there has been very limited research and evidence on the prevalence or prevention of cystic echinococcosis. This field-based cross-sectional study to investigate the prevalence of cystic echinococcosis and its potential risk factors in Mongolia was conducted from April 2016 to March 2018. A total of 1,993 people were examined by ultrasound in five provinces of Mongolia. All cystic echinococcosis positive cases were classified according to the WHO-IWGE expert recommendations. The logistic regression model was used to detect the association between the presence of echinococcus infection and each potential risk factor. This was the first community survey based on ultrasound screening in Mongolia. We found 98 cystic echinococcosis cases (prevalence = 4.9%), including 85 abdominal ultrasound cystic echinococcosis positive cases and 13 abdominal ultrasound cystic echinococcosis negative cases (surgically treated cystic echinococcosis cases 11, and 2 confirmed cases of lung cystic echinococcosis by chestcomputed tomography in hospital of Ulaanbaatar). The prevalence of cystic echinococcosis varied greatly among different provinces, ranging from 2.0% to 13.1%. Children, elderly people and those with lower education had higher chances of getting cystic echinococcosis. Rather than dog ownership itself, daily practice for cleaning dog feces was associated with increased odds of cystic echinococcosis. The results of the present study show very high endemicity of cystic echinococcosis in Umnugovi province. Evaluation of potential risk factors associated with cystic echinococcosisshow high significance for following factors: demographics (age), social condition (education level) and hygiene practices (cleaning dog feces and use of gloves). Children under 18 and elderly people are considered as the most risk age groups in Mongolia.