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- W2022082086 abstract "<h3>Background</h3> Despite its important role in many serious diseases, the genetic background for plasma YKL-40 has still not been systematically catalogued. Therefore, we aimed at identifying genetic variants in <i>CHI3L1</i> influencing plasma YKL-40 levels in the general population. <h3>Methods</h3> We resequenced the promoter, all 10 exons and exon-flanking intron segments of <i>CHI3L1</i> in 904 individuals from the Danish general population (n=8899) with extreme plasma YKL-40 levels, adjusted for age. To potentially identify clinically important genetic variants with elevated plasma YKL-40 levels, we included twice as many individuals with the highest plasma YKL-40 levels (n=603) compared with the lowest plasma YKL-40 levels (n=301). Next, we mapped linkage disequilibrium for all variants with a minor allele frequency (MAF)>0.005. Finally, all participants were genotyped for eight variants that had divergent MAFs in the two extreme plasma YKL-40 groups. <h3>Results</h3> We identified 59 genetic variants in <i>CHI3L1</i>. Fifteen of the genetic variants were associated with plasma YKL-40 levels. Three promoter SNPs, 1 non-synonymous SNP, and four intronic SNPs in C<i>HI3L1</i> were associated with plasma YKL-40 levels at or below genome-wide association significance levels (unadjusted p for trend: from 4 × 10<sup>−8</sup> to 6 × 10<sup>−243</sup>; age adjusted percentiles p for trend: from 3 × 10<sup>−12</sup> to 2 × 10<sup>−304</sup>). <h3>Conclusions</h3> In a systematic search to identify genetic variants influencing plasma YKL-40 levels, we identified eight SNPs associated with plasma YKL-40 levels in the general population." @default.
- W2022082086 created "2016-06-24" @default.
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- W2022082086 date "2013-09-23" @default.
- W2022082086 modified "2023-09-25" @default.
- W2022082086 title "Genetic variants in<i>CHI3L1</i>influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population" @default.
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- W2022082086 doi "https://doi.org/10.1136/jmedgenet-2013-101908" @default.
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