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. 2010 Apr;42(4):289-91.
doi: 10.1038/ng.547. Epub 2010 Mar 7.

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

Marc E Rothenberg  1 , Jonathan M Spergel, Joseph D Sherrill, Kiran Annaiah, Lisa J Martin, Antonella Cianferoni, Laura Gober, Cecilia Kim, Joseph Glessner, Edward Frackelton, Kelly Thomas, Carine Blanchard, Chris Liacouras, Ritu Verma, Seema Aceves, Margaret H Collins, Terri Brown-Whitehorn, Phil E Putnam, James P Franciosi, Rosetta M Chiavacci, Struan F A Grant, J Pablo Abonia, Patrick M A Sleiman, Hakon Hakonarson
Affiliations

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

Marc E Rothenberg et al. Nat Genet. 2010 Apr.

Abstract

Eosinophilic esophagitis (EoE) is an allergic disorder characterized by the accumulation of eosinophils in the esophagus. We report association of EoE with variants at chromosome 5q22 encompassing TSLP and WDR36 (rs3806932, combined P = 3.19 x 10(-9)). TSLP is overexpressed in esophageal biopsies from individuals with EoE compared with unaffected individuals, whereas WDR36 expression is unaltered between the two groups. These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region.

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Figures

Figure 1
Figure 1
Regional plot of the 5q22 locus and follow-up expression studies. (a) Regional plot showing the associated SNPs in the TSLP-WDR36 region. The relative position of each SNP is plotted against −log10 P values and the recombination rate in the region. (b,c) TSLP mRNA is increased in the esophagus in EoE cases. Quantitative PCR on esophageal biopsies from 26 unaffected individuals (NL) and 33 EoE cases show that mRNA levels of TSLP are significantly increased in EoE (c), but that WDR36 (b) is not. Data are normalized to GAPDH mRNA levels. ***, P < 0.0001; ns, not significant. (d) TSLP expression level stratified by rs3806932 genotype. TSLP expression is decreased in individuals homozygous for the protective minor allele (G). Error bars in b–d, interquartile range.
Figure 1
Figure 1
Regional plot of the 5q22 locus and follow-up expression studies. (a) Regional plot showing the associated SNPs in the TSLP-WDR36 region. The relative position of each SNP is plotted against −log10 P values and the recombination rate in the region. (b,c) TSLP mRNA is increased in the esophagus in EoE cases. Quantitative PCR on esophageal biopsies from 26 unaffected individuals (NL) and 33 EoE cases show that mRNA levels of TSLP are significantly increased in EoE (c), but that WDR36 (b) is not. Data are normalized to GAPDH mRNA levels. ***, P < 0.0001; ns, not significant. (d) TSLP expression level stratified by rs3806932 genotype. TSLP expression is decreased in individuals homozygous for the protective minor allele (G). Error bars in b–d, interquartile range.
Figure 1
Figure 1
Regional plot of the 5q22 locus and follow-up expression studies. (a) Regional plot showing the associated SNPs in the TSLP-WDR36 region. The relative position of each SNP is plotted against −log10 P values and the recombination rate in the region. (b,c) TSLP mRNA is increased in the esophagus in EoE cases. Quantitative PCR on esophageal biopsies from 26 unaffected individuals (NL) and 33 EoE cases show that mRNA levels of TSLP are significantly increased in EoE (c), but that WDR36 (b) is not. Data are normalized to GAPDH mRNA levels. ***, P < 0.0001; ns, not significant. (d) TSLP expression level stratified by rs3806932 genotype. TSLP expression is decreased in individuals homozygous for the protective minor allele (G). Error bars in b–d, interquartile range.
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References

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