Genetic Variants in IL6R and ADAM19 are Associated with COPD Severity in a Mexican Mestizo Population

Autor:	Ramcés Falfán-Valencia, Raúl H Sansores, Rafael Hernández-Zenteno, Juan Carlos Fernández-López, Carlos Espinosa de los Monteros, Alejandra Ramírez-Venegas, Fernando Flores-Trujillo, Alejandra Velazquez-Montero, Fabiola Morales-Mandujano, Mónica Velázquez-Uncal, Irma Silva-Zolezzi, Gloria Pérez-Rubio, Candelaria Sánchez-Romero, Ángel Camarena
Rok vydání:	2016
Předmět:	Male 0301 basic medicine Pulmonary and Respiratory Medicine medicine.medical_specialty Population Single-nucleotide polymorphism Lower risk Bioinformatics Polymorphism Single Nucleotide Severity of Illness Index Pulmonary Disease Chronic Obstructive 03 medical and health sciences 0302 clinical medicine Cytochrome P-450 Enzyme System Internal medicine Severity of illness Ethnicity Humans Medicine Prospective Studies education Mexico Alleles Aged COPD education.field_of_study business.industry Smoking Case-control study Odds ratio Middle Aged Pulmonary Surfactant-Associated Protein D medicine.disease Receptors Interleukin-6 Obstructive lung disease respiratory tract diseases ADAM Proteins 030104 developmental biology Haplotypes 030228 respiratory system Case-Control Studies Female business
Zdroj:	COPD: Journal of Chronic Obstructive Pulmonary Disease. 13:610-615
ISSN:	1541-2563 1541-2555
Popis:	Chronic obstructive pulmonary disease (COPD) is a complex and multifactorial disease with a strong genetic component. Our objective is to identify the genetic variants associated with COPD risk and its severity in Mexican Mestizo population. We evaluated 1285 single-nucleotide polymorphisms (SNPs) of candidate genes in 299 smokers with COPD (COPD-S) and 531 smokers without COPD (SWOC) using an Illumina GoldenGate genotyping microarray. In addition, 251 ancestry informative markers were included. Allele A of rs2545771 in CYP2F2P is associated with a lower risk of COPD (p = 4.02E-10, odds ratio [OR] = 0.104, confidence interval [CI] 95% 0.05-0.18). When the COPD group was stratified by severity according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD; levels III + IV vs. I + II), 3 SNPs (rs4329505 and rs4845626 in interleukin 6 receptor [IL6R] and rs1422794 in a disintegrin and metalloproteinase domain 19 [ADAM19]) were associated with a lower risk of suffering the most severe stages of the disease. rs2819096 in the surfactant protein D (SFTPD) gene was associated with a higher risk of COPD GOLD III + IV (p = 7.79E-03, OR = 1.80, CI 95% 1.16-2.79). Finally, the haplotype in IL6R was associated with a lower risk of suffering from more severe COPD, whereas the haplotype in ADAM19 was associated with a higher risk (p = 7.40E-03, OR = 2.83, CI 95% 1.20-6.86) of suffering from the severe stages of the disease. Our data suggest that there are alleles and haplotypes in the IL6R, ADAM19, and SFTPD genes associated with different severity stages of COPD; in CYP2F2P, rs25455771 is associated with a lower risk of COPD.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f788fbf6608c751c9eef19b9dcb715 https://doi.org/10.3109/15412555.2016.1161017 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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