Effect of SNPs in HSP Family Genes, Variation in the mRNA and Intracellular Hsp Levels in COPD Secondary to Tobacco Smoking and Biomass-Burning Smoke

Ambrocio-Ortiz, Enrique; Pérez-Rubio, Gloría; Ramírez‐Venegas, Alejandra; Hernández-Zenteno, Rafael de Jesús; Ángel-Pablo, Alma D. Del; Pérez-Rodríguez, Martha; Salazar, Ana Marı́a; Abarca-Rojano, Edgar; Falfán-Valencia, Ramcés

doi:10.3389/fgene.2019.01307

Cited by 16 publications

(18 citation statements)

References 49 publications

(49 reference statements)

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“…Unfortunately, in the southern region even though Amerindian contribution predominates, this exposed group was women in charge of household chores, among which is cooking, an activity in which they use wood (primarily) to start and maintain the combustion of biomass to heat food, as we have previously reported. 39 For that reason, the biomass burning-smoke group had a predominance of females.…”

Section: Discussionmentioning

confidence: 99%

Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study

Pérez-Rubio

Ambrocio-Ortiz

López-Flores

et al. 2020

COPD

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The protease inhibitor S (PiS) and Z (PiZ) variants have been stated as the only genetic cause of chronic obstructive pulmonary disease (COPD) in Caucasians. However, its frequency in admixed populations is low. We aimed to identify genetic susceptibility between PiS (rs17580) and PiZ (rs28929474) polymorphisms with COPD related to tobacco smoking and biomass-burning smoke as well as to determine its frequencies in Mestizo and Amerindian populations from Mexico. Patients and Methods: One thousand and eight hundred seventy-eight subjects were included in two comparisons of cases and controls, (1) smokers with and without COPD (COPD-S, n=399; SWOC, n=1106); (2) Biomass-burning smoke-exposed subjects with and without COPD (COPD-BS, n=98; BBES, n=275). In addition, 2354 Mexican subjects identified as Mestizos (n=1952) and Amerindian (n=402) were included. The population structure was evaluated using 59 informative ancestry markers. Results: The AT genotype of rs17580 is associated with COPD in both comparisons (COPD-S vs SWOC p<0.001, OR=2.16; COPD-BS vs BBES p<0.0001, OR=11.50). The population of the Mexico-North has a greater Caucasian contribution (54.7%) compared to the center (46.9%) and southeast (42.7%). Conclusion: The rs17580, AT genotype, is associated with COPD in Mexican-Mestizo smokers and exposed to biomass-burning smoke. The rs17580 AT is more frequent in the Mexican-Mestizo population of the North of the country, which has a high Caucasian component.

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Section: Discussionmentioning

confidence: 99%

Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study

Pérez-Rubio

Ambrocio-Ortiz

López-Flores

et al. 2020

COPD

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“…Based on genotype analysis, we selected a subsample of participants for more in-depth characterization. To obtain sputum, we followed a previously published protocol [ 15 ]; briefly, participants were treated with a nebulizer with a sterile 7% saline solution. Treatment lasted for 5 min followed by a rest period of 5 min.…”

Section: Methodsmentioning

confidence: 99%

Participation of HHIP Gene Variants in COPD Susceptibility, Lung Function, and Serum and Sputum Protein Levels in Women Exposed to Biomass-Burning Smoke

et al. 2020

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Background: A variety of organic materials (biomass) are burned for cooking and heating purposes in poorly ventilated houses; smoke from biomass combustion is considered an environmental risk factor for chronic obstructive pulmonary disease COPD. In this study, we attempted to determine the participation of single-nucleotide variants in the HHIP (hedgehog-interacting protein) gene in lung function, HHIP serum levels, and HHIP sputum supernatant levels in Mexican women with and without COPD who were exposed to biomass-burning smoke. Methods: In a case-control study (COPD-BS, n = 186, BBES, n = 557) in Mexican women, three SNPs (rs13147758, rs1828591, and rs13118928) in the HHIP gene were analyzed by qPCR; serum and supernatant sputum protein levels were determined through ELISA. Results: The rs13118928 GG genotype is associated with decreased risk (p = 0.021, OR = 0.51, CI95% = 0.27–0.97) and the recessive genetic model (p = 0.0023); the rs1828591-rs13118928 GG haplotype is also associated with decreased risk (p = 0.04, OR = 0.65, CI95% 0.43–0.98). By the dominant model (rs13118928), the subjects with one or two copies of the minor allele (G) exhibited higher protein levels. Additionally, two correlations with the AG genotype were identified: BBES with FEV1 (p = 0.03, r2 = 0.53) and COPD-BS with FEV1/FVC (p = 0.012, r2 = 0.54). Conclusions: Single-nucleotide variants in the HHIP gene are associated with decreased COPD risk, higher HHIP serum levels, and better lung function in Mexican women exposed to biomass burning.

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“…Although it has been reported that some genes involved in inflammation are associated with respiratory diseases [ 87 , 88 , 89 , 90 , 91 , 92 ], investigations regarding genetic factors involved in the susceptibility and severity are scanty. Two primary examples in inflammatory response genes, where genetic variability is associated with an altered phenotype, are TNF-α and IL-1β; both are pleiotropic modulators critical in regulating inflammation.…”

Section: Genetic Variants and Influenza A H1n1 Virus Infectionmentioning

confidence: 99%

Role of the Host Genetic Susceptibility to 2009 Pandemic Influenza A H1N1

Pérez-Rubio

Ponce-Gallegos

Domínguez-Mazzocco

et al. 2021

Viruses

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Influenza A virus (IAV) is the most common infectious agent in humans, and infects approximately 10–20% of the world’s population, resulting in 3–5 million hospitalizations per year. A scientific literature search was performed using the PubMed database and the Medical Subject Headings (MeSH) “Influenza A H1N1” and “Genetic susceptibility”. Due to the amount of information and evidence about genetic susceptibility generated from the studies carried out in the last influenza A H1N1 pandemic, studies published between January 2009 to May 2020 were considered; 119 papers were found. Several pathways are involved in the host defense against IAV infection (innate immune response, pro-inflammatory cytokines, chemokines, complement activation, and HLA molecules participating in viral antigen presentation). On the other hand, single nucleotide polymorphisms (SNPs) are a type of variation involving the change of a single base pair that can mean that encoded proteins do not carry out their functions properly, allowing higher viral replication and abnormal host response to infection, such as a cytokine storm. Some of the most studied SNPs associated with IAV infection genetic susceptibility are located in the FCGR2A, C1QBP, CD55, and RPAIN genes, affecting host immune responses through abnormal complement activation. Also, SNPs in IFITM3 (which participates in endosomes and lysosomes fusion) represent some of the most critical polymorphisms associated with IAV infection, suggesting an ineffective virus clearance. Regarding inflammatory response genes, single nucleotide variants in IL1B, TNF, LTA IL17A, IL8, IL6, IRAK2, PIK3CG, and HLA complex are associated with altered phenotype in pro-inflammatory molecules, participating in IAV infection and the severest form of the disease.

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Effect of SNPs in HSP Family Genes, Variation in the mRNA and Intracellular Hsp Levels in COPD Secondary to Tobacco Smoking and Biomass-Burning Smoke

Cited by 16 publications

References 49 publications

<p>Heterozygous Genotype rs17580 AT (PiS) in <em>SERPINA1</em> is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study</p>

<p>Heterozygous Genotype rs17580 AT (PiS) in <em>SERPINA1</em> is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study</p>

Participation of HHIP Gene Variants in COPD Susceptibility, Lung Function, and Serum and Sputum Protein Levels in Women Exposed to Biomass-Burning Smoke

Role of the Host Genetic Susceptibility to 2009 Pandemic Influenza A H1N1

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