RT Journal Article
SR Electronic
T1 Haplotypes associated with COPD and its severity in Mexican mestizo population
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP P1400
VO 42
IS Suppl 57
A1 Ramcés Falfán-Valencia
A1 Gloria Pérez-Rubio
A1 Juan Carlos Fernández-López
A1 Alejandra Raírez-Venegas
A1 Angel Camarena
A1 Raúl Sansores
YR 2013
UL http://erj.ersjournals.com/content/42/Suppl_57/P1400.abstract
AB Background: COPD is a complex disease whose main risk factor is cigarette smoking, there is genetic component that predisposes to develop it; the objective of this study is to evaluate haplotypes associated with COPD and its severity in Mexican mestizo population.Methods: We conducted a study with 299 patients with COPD (P-COPD) secondary to smoking and 531 smokers without COPD (SW-C), P-COPD were classified according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2010, in 2 groups, GOLD I+II and III+IV. It was designed a microarray (Illumina, CA, USA) with 1536 single nucleotide polymorphisms (SNPs); 251 were ancestry informative markers (AIMs), the rest were distributed in 24 candidate genomic regions. To describe the study population used SPSS; population stratification was performed by EIGENSOFT software, the structure of linkage disequilibrium and haplotype generation was performed using the software Haploview 4.2.Results: We find haplotypes associated with COPD in 3 genes: FAM69A, ZNF583 and SLC9A8.View this table:Haplotypes associatedAnalysis according GOLD, shows an haplotype in IL6R gene (I+II vs III+IV) associated to protection (p = 8.00E-03) and other to susceptibility in ADAM19 (p = 7.40E-03), both genes encoding proteins involved in the inflammation process.Conclusions: There are haplotypes associated with COPD and GOLD severity in Mexican mestizo population.