Promoter polymorphisms in CHI3L1 are associated with asthma

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Promoter polymorphisms in CHI3L1 are associated with asthma Dominique J. Verlaan, PhD, Manon Ouimet, MSc, Veronique Adoue, MSc, Dave Sirois-Gagnon, MSc, Mathieu Larivière, MSc, Bing Ge, MSc, Patrick Beaulieu, MSc, Joana Dias, MEng, Kevin C.L. Lam, MSc, Vonda Koka, MSc, Catherine Laprise, PhD, Tomi Pastinen, MD, PhD, Daniel Sinnett, PhD Journal of Allergy and Clinical Immunology Volume 130, Issue 2, Pages 533-535 (August 2012) DOI: 10.1016/j.jaci.2012.03.015 Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Functional analysis of the CHI3L1 gene. AE mapping for cis-regulatory variation in CHI3L1 locus using CEU and YRI population panels of lymphoblastoid cells. Coordinates (hg18) for locus shown on top; top track with vertical red bars show average phased allelic expression for rs10399931 heterozygotes indicated as fold-difference between alleles with up to 6-fold difference (C-allele overexpressed) observed for an expressed SNP in the primary transcript. Each of the red bars corresponds to independently measured population heterozygote ratio (average heterozygote ratio in DNA–average heterozygote ratio in RNA) at different expressed SNPs as described previously.5 The 3 blue tracks indicate the −log10(P value) of the AE association across all SNPs tested in CEU, in YRI, and combined. Top SNP associations are highlighted in the combined mapping track. The location of transcripts is shown below this and bottom graphs show linkage disequilibrium maps (r2). LCLs, Lymphoblastoid cell lines. Journal of Allergy and Clinical Immunology 2012 130, 533-535DOI: (10.1016/j.jaci.2012.03.015) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Gene reporter assays for the CHI3L1 0.5-kb promoter haplotypes containing 3 SNPs (rs4950928, rs10399805, and rs10399931). Relative luciferase activity of the promoter haplotypes was measured following transient transfection in Jurkat cells. The empty promoterless pGL3-Basic vector was used as negative control. Results are expressed in a ratio of Firefly/Renilla activity multiplied by 100. In Jurkat cells, rs10399931 has the strongest effect on promoter activity. P values were calculated from 4 replicates with unpaired Student t test (for rs10399931, Hap02 vs Hap08 P < .0001; Hap01 vs Hap 07 P < .0001; for rs4950928, Hap07 vs Hap08 P = .02; Hap03 vs Hap10 P < .0001). Journal of Allergy and Clinical Immunology 2012 130, 533-535DOI: (10.1016/j.jaci.2012.03.015) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions