Ortega-Martínez Alejandro, Pérez-Rubio Gloria, Ramírez-Venegas Alejandra, Ramírez-Díaz María Elena, Cruz-Vicente Filiberto, Martínez-Gómez María de Lourdes, Ramos-Martínez Espiridión, Abarca-Rojano Edgar, Falfán-Valencia Ramcés
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City 14080, Mexico.
Sección de Estudios de Posgrado e Investigación. Escuela Superior de Medicina, Instituto Politécnico Nacional, Plan de San Luis y Díaz Mirón s/n, Casco de Santo Tomas, Mexico City 11340, Mexico.
Diagnostics (Basel). 2020 Sep 23;10(10):734. doi: 10.3390/diagnostics10100734.
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 (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.
In a case-control study (COPD-BS, = 186, BBES, = 557) in Mexican women, three SNPs (rs13147758, rs1828591, and rs13118928) in the gene were analyzed by qPCR; serum and supernatant sputum protein levels were determined through ELISA.
The rs13118928 GG genotype is associated with decreased risk ( = 0.021, OR = 0.51, CI95% = 0.27-0.97) and the recessive genetic model ( = 0.0023); the rs1828591-rs13118928 GG haplotype is also associated with decreased risk ( = 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 FEV ( = 0.03, r = 0.53) and COPD-BS with FEV/FVC ( = 0.012, r = 0.54).
Single-nucleotide variants in the gene are associated with decreased COPD risk, higher HHIP serum levels, and better lung function in Mexican women exposed to biomass burning.
在通风不良的房屋中,人们燃烧各种有机材料(生物质)用于烹饪和取暖;生物质燃烧产生的烟雾被认为是慢性阻塞性肺疾病(COPD)的一个环境风险因素。在本研究中,我们试图确定刺猬相互作用蛋白(HHIP)基因中的单核苷酸变异在接触生物质燃烧烟雾的墨西哥COPD女性和非COPD女性的肺功能、HHIP血清水平及HHIP痰液上清液水平中的作用。
在一项针对墨西哥女性的病例对照研究(COPD - BS组,n = 186;BBES组,n = 557)中,通过qPCR分析HHIP基因中的三个单核苷酸多态性(SNPs,rs13147758、rs1828591和rs13118928);通过酶联免疫吸附测定(ELISA)确定血清和痰液上清液中的蛋白质水平。
rs13118928的GG基因型与降低风险相关(P = 0.021,比值比[OR] = 0.51,95%置信区间[CI] = 0.27 - 0.97),且与隐性遗传模型相关(P = 0.0023);rs1828591 - rs13118928的GG单倍型也与降低风险相关(P = 0.04,OR = 0.65,95% CI 0.43 - 0.98)。根据显性模型(rs13118928),携带一个或两个次要等位基因(G)拷贝的受试者表现出更高的蛋白质水平。此外,还发现了与AG基因型的两种相关性:BBES组与第1秒用力呼气容积(FEV1)相关(P = 0.03,r = 0.53),COPD - BS组与FEV1/用力肺活量(FVC)相关(P = 0.012,r = 0.54)。
HHIP基因中的单核苷酸变异与接触生物质燃烧的墨西哥女性降低COPD风险、提高HHIP血清水平及改善肺功能相关。