Role of Genetic Susceptibility in Nicotine Addiction and Chronic Obstructive Pulmonary Disease

Pérez-Rubio, Gloría; Córdoba-Lanús, Elizabeth; Cupertino, Paula; Cartujano-Barrera, Francisco; Campos, Michael; Falfán-Valencia, Ramcés

doi:10.24875/ric.18002617

Cited by 23 publications

(16 citation statements)

References 187 publications

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“…Also, multiple studies have evaluated the participation of genetics factors in the COPD pathogenesis, 30 including PiS and PiZ variants, mostly applying this phenotypebased concept and leaving out the variability for each polymorphism and the potential contribution to COPD and/or its clinical features.…”

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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“…COPD is classified as a multifactorial disease, which means that in addition to the environmental factors strongly associated with the physiopathology of the disease, genetic factors, mostly single nucleotide polymorphisms (SNPs), have also been determined to contribute to the susceptibility and clinical variables of COPD [ 6 ]. In 2009, through genome-wide association studies (GWAS), several SNPs in the HHIP (hedgehog-interacting protein) gene were identified [ 7 ]; however, in this initial study, the results did not reach strict levels of significance.…”

Section: Introductionmentioning

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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“…Molecular factors associated with a genetic predisposition to COPD have been widely studied (Pérez-Rubio et al, 2019). Several GWASs have identified a genetic loci of susceptibility, including FAM13A, CHRNA5/3, IREB2, MMP3/MMP12, TGFB2, and HHIP.…”

Section: Discussionmentioning

confidence: 99%

The SNP rs13147758 in the HHIP Gene Is Associated With COPD Susceptibility, Serum, and Sputum Protein Levels in Smokers

et al. 2020

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Background: Genetic association studies have identified single nucleotide polymorphisms (SNPs) related to chronic obstructive pulmonary disease (COPD) susceptibility. The aim of this study was to identify HHIP genetic variants associated with COPD, pulmonary function, and serum and sputum HHIP protein levels in Mexican mestizo smokers. Materials and Methods: Association analysis was performed by carrying out a case-control study in Mexican mestizo smokers comprised of two groups: tobaccosmoking subjects with COPD (COPD-TS, n = 222) and smokers without COPD (SWOC, n = 333). We evaluated three SNPs (rs13147758, rs1828591, and rs13118928) in the HHIP gene. Allele discrimination was accomplished by qPCR using TaqMan probes, and determination of protein levels in the serum and sputum supernatants (SS) was performed using ELISA. Results: Statistically significant differences were observed in the rs13147758 GG genotype (adjusted p = 0.014, OR = 1.95) and the rs13147758-rs1828591 GA haplotype (p = 6.6E-06, OR = 2.65) in the case-control comparison. HHIP protein levels were elevated in SS samples from the COPD-TS group compared to those from the SWOC group (p = 0.03). Based on genotype analysis, HHIP protein levels were lower in the serum samples of rs13147758 GG genotype carriers in the COPD-TS group than in the serum samples of rs13147758 GG genotype carriers from the SWOC group (p < 0.05), but there were no differences in the sputum samples. Conclusion: The rs13147758 GG genotype and the rs13147758-rs1828591 GA haplotype are associated with susceptibility to COPD. Furthermore, an association in protein levels was observed between the HHIP rs13147758 genotype and COPD in Mexican mestizo smokers.

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Role of Genetic Susceptibility in Nicotine Addiction and Chronic Obstructive Pulmonary Disease

Cited by 23 publications

References 187 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

The SNP rs13147758 in the HHIP Gene Is Associated With COPD Susceptibility, Serum, and Sputum Protein Levels in Smokers

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