TY - JOUR
T1 - Association of TRPM3 Polymorphism (rs10780946) and Aspirin-Exacerbated Respiratory Disease (AERD)
AU - Narayanankutty, Arun
AU - Palma-Lara, Icela
AU - Pavón-Romero, Gandhi
AU - Pérez-Rubio, Gloria
AU - Camarena, Ángel
AU - Teran, Luis M.
AU - Falfán-Valencia, Ramcés
N1 - Publisher Copyright:
© 2016, Springer Science+Business Media New York.
PY - 2016/4/1
Y1 - 2016/4/1
N2 - Introduction: Aspirin-exacerbated respiratory disease (AERD) refers to the combination of asthma rhinosinusitis and poliposis; ingestion of aspirin or other non-steroid anti-inflammatory drugs exacerbate asthma-like symptoms. The pathogenesis of AERD is unknown, and genetic and environmental factors contribute to the disease. Our objective is identifying polymorphisms associated with susceptibility in a Mexican mestizo population. Methods: Primarily we performed custom Illumina goldengate array-based genotyping of 1512 SNPs, carefully selected from a variety of acute/chronic inflammatory lung conditions previously reported. Four SNPs in TRPM3 gene showed the lowest p-values (rs10780946, rs7025694, rs1889915, and rs7047645). We further selected rs10780946 and rs7025694 for validation using Taqman genotyping (n = 743; 288 AERD, 272 ATA, and 183 HC). Results: rs10780946 showed association when compared between AERD and ATA groups under co-dominant (p = 0.006), dominant (p = 0.002), overdominant (p = 0.01), and log-additive (p = 0.03) genetic models. AERD showed increased heterozygous TC (rs10780946–rs7025694) haplotype compared to ATA and HC (p < 0.05). We could not confirm any association between rs7025694 and AERD. Conclusion: rs10780946 TRPM3 polymorphism is associated with AERD susceptibility.
AB - Introduction: Aspirin-exacerbated respiratory disease (AERD) refers to the combination of asthma rhinosinusitis and poliposis; ingestion of aspirin or other non-steroid anti-inflammatory drugs exacerbate asthma-like symptoms. The pathogenesis of AERD is unknown, and genetic and environmental factors contribute to the disease. Our objective is identifying polymorphisms associated with susceptibility in a Mexican mestizo population. Methods: Primarily we performed custom Illumina goldengate array-based genotyping of 1512 SNPs, carefully selected from a variety of acute/chronic inflammatory lung conditions previously reported. Four SNPs in TRPM3 gene showed the lowest p-values (rs10780946, rs7025694, rs1889915, and rs7047645). We further selected rs10780946 and rs7025694 for validation using Taqman genotyping (n = 743; 288 AERD, 272 ATA, and 183 HC). Results: rs10780946 showed association when compared between AERD and ATA groups under co-dominant (p = 0.006), dominant (p = 0.002), overdominant (p = 0.01), and log-additive (p = 0.03) genetic models. AERD showed increased heterozygous TC (rs10780946–rs7025694) haplotype compared to ATA and HC (p < 0.05). We could not confirm any association between rs7025694 and AERD. Conclusion: rs10780946 TRPM3 polymorphism is associated with AERD susceptibility.
KW - AERD
KW - Aspirin intolerance
KW - Association study
KW - Ca channel
KW - TRPM3
UR - http://www.scopus.com/inward/record.url?scp=84961199238&partnerID=8YFLogxK
U2 - 10.1007/s00408-016-9852-9
DO - 10.1007/s00408-016-9852-9
M3 - Artículo
SN - 0341-2040
VL - 194
SP - 273
EP - 279
JO - Lung
JF - Lung
IS - 2
ER -