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Updated: Sep 27, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Associations Between Genetic Variants in the 17q21 Locus, CDHR3 and Childhood Asthma
Anastasia Filiou1,2, Angela Hoyer1, Idun Holmdahl1,3,4
1Department of Women's and Children's Health, Karolinska Institutet, 171 77 Stockholm, Sweden.
Abstract:
Background: Previously identified asthma-susceptibility genes account for a small part of asthma heritability and their role in asthma pathogenesis is unclear. We explored associations between genetic variants in the 17q21 locus, CDHR3 (cadherin-related family member 3), coding a receptor for Rhinovirus-C, preschool wheeze and asthma at 7 years. Methods: Four genetic variants in the 17q21 locus (rs8076131, rs12603332, rs8079416, rs3859192) and rs6967330 in CDHR3 were studied regarding associations with preschool wheeze and asthma at 7 years. We compared 125 cases, enrolled during an acute wheezing episode, with 96 healthy controls at preschool age (6-45 months). A total of 99 of 125 children attended the follow-up at 7 years old. Cases with asthma (N = 68) and without asthma (N = 31) at 7 years old were compared regarding genetic variants and other clinical parameters. Results: Rs8076131 (AA vs. GG) was associated with preschool wheeze (OR 3.50, p = 0.001), and asthma at 7 years (OR 8.55, p = 0.002). Rs12603332 (CC vs. TT) was related to asthma at 7 years irrespective of rhinovirus infection at inclusion or current signs of airborne allergy (aOR 7.17, p = 0.016). The association of rs6967330 with asthma was restricted to children with specific genotypes in the 17q21 locus; rs8076131-AA (p = 0.028), rs8079416-CC (p = 0.006), and rs3859192-TT (p = 0.042). Rhinovirus infection at inclusion was significantly related to asthma exclusively in homozygotes rs8079416-CC (p = 0.032) and rs3859192-TT (p = 0.027). Conclusions: Our results highlight the impact of asthma heritability by reporting strong associations between the 17q21 locus and asthma in a high-risk cohort. The association of rs6967330 in CDHR3 and early-life rhinovirus infection with asthma at school age might be dependent on specific genotypes in the 17q21 locus.
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