The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma.

Marie-Hélène Dizier, Patricia Margaritte-Jeannin, Anne-Marie Madore, Jorge Esparza-Gordillo, Miriam Moffatt, Eve Corda, Florent Monier, Michel Guilloud-Bataille, Andre Franke, Stephan Weidinger, Isabella Annesi-Maesano, Jocelyne Just, Isabelle Pin, Francine Kauffmann, William Cookson, Young-Ae Lee, Catherine Laprise, Mark Lathrop, Emmanuelle Bouzigon, Florence Demenais
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Journal of allergy and clinical immunology
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The significant single nucleotide polymorphisms are located within the overlapping anoctamin 3 (ANO3) and mucin 15 (MUC15) genes. Several lines of evidence suggest that MUC15 is a strong candidate for eczema. Further investigation is needed to confirm our findings and to better understand the role of the ANO3/MUC15 locus in eczema and its relationship with respect to asthma.We found significant association of eczema with 11p14 genetic variants in the vicinity of the linkage peak in EGEA (P = 10(-4) for rs1050153 by using the family-based association method, which reached the multiple testing-corrected threshold of 10(-4); P = .003 with logistic regression). Pooled analysis of the 3 asthma-ascertained samples showed strong improvement in the evidence for association (P = 6 × 10(-6) for rs293974, P = 3 × 10(-5) for rs1050153, and P = 8 × 10(-5) for rs15783). No association was observed in the eczema-ascertained samples.Association analyses were first conducted in the family sample from the French EGEA by using 2 methods: the family-based association method and logistic regression. Replication of the EGEA findings was sought in French Canadian and United Kingdom family samples, which, similarly to EGEA samples, were ascertained through asthma. We also tested for association in 2 German samples ascertained through eczema.Our purpose was to conduct fine-scale mapping of the 11p14 region to identify the genetic variants associated with eczema.A previous genome-wide linkage scan in 295 families of the French Epidemiological Study on the Genetics and Environment of Asthma (EGEA) reported strong evidence of linkage of 11p14 to eczema.