BACKGROUND: Recently, the two single nucleotide polymorphisms, rs7927894 on chromosome 11q13.5 and rs877776 within the region of the hornerin gene, were identified as novel susceptibility variants for atopic dermatitis in the first genome wide association study in atopic dermatitis. OBJECTIVE: The aim of our study was to evaluate the influence of these two genetic variants on atopic dermatitis and disease-related phenotypes in the Austrian population. METHODS: 275 atopic dermatitis patients and 243 controls were genotyped for the two variants rs7927894 and rs877776 by using Taqman based allelic discrimination assays. RESULTS: When comparing patients with controls we found a significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis (OR: 1.71; CI 1.14-2.59; p=0.010). Subgroup analysis revealed no significant association of rs7927894 with early age of onset of the disease, concomitant asthma and allergic rhinoconjunctivitis, total serum IgE levels and family history of atopy. The analysis of the rs877776 variant showed neither a relevant difference in the allelic distribution between patients and controls nor a statistically significant association with any of the analyzed atopic dermatitis phenotypes. CONCLUSIONS: In summary our data show a statistically significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis but not with other disease-related phenotypes. Therefore, we assume that the rs7927894 single nucleotide polymorphism selectively influences eczema development. More investigations in distinct study populations are needed to assess the role of this interesting polymorphism in atopic dermatitis.
BACKGROUND: Recently, the two single nucleotide polymorphisms, rs7927894 on chromosome 11q13.5 and rs877776 within the region of the hornerin gene, were identified as novel susceptibility variants for atopic dermatitis in the first genome wide association study in atopic dermatitis. OBJECTIVE: The aim of our study was to evaluate the influence of these two genetic variants on atopic dermatitis and disease-related phenotypes in the Austrian population. METHODS: 275 atopic dermatitispatients and 243 controls were genotyped for the two variants rs7927894 and rs877776 by using Taqman based allelic discrimination assays. RESULTS: When comparing patients with controls we found a significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis (OR: 1.71; CI 1.14-2.59; p=0.010). Subgroup analysis revealed no significant association of rs7927894 with early age of onset of the disease, concomitant asthma and allergic rhinoconjunctivitis, total serum IgE levels and family history of atopy. The analysis of the rs877776 variant showed neither a relevant difference in the allelic distribution between patients and controls nor a statistically significant association with any of the analyzed atopic dermatitis phenotypes. CONCLUSIONS: In summary our data show a statistically significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis but not with other disease-related phenotypes. Therefore, we assume that the rs7927894 single nucleotide polymorphism selectively influences eczema development. More investigations in distinct study populations are needed to assess the role of this interesting polymorphism in atopic dermatitis.
Authors: Daniel E Miller; Carmy Forney; Mark Rochman; Stacey Cranert; Jeffery Habel; Jeffrey Rymer; Arthur Lynch; Connor Schroeder; Josh Lee; Amber Sauder; Quinton Smith; Mehak Chawla; Michael P Trimarchi; Xiaoming Lu; Ellen Fjellman; Michael Brusilovsky; Artem Barski; Stephen Waggoner; Matthew T Weirauch; Marc E Rothenberg; Leah C Kottyan Journal: G3 (Bethesda) Date: 2019-03-07 Impact factor: 3.154
Authors: Leah C Kottyan; Benjamin P Davis; Joseph D Sherrill; Kan Liu; Mark Rochman; Kenneth Kaufman; Matthew T Weirauch; Samuel Vaughn; Sara Lazaro; Andrew M Rupert; Mojtaba Kohram; Emily M Stucke; Katherine A Kemme; Albert Magnusen; Hua He; Phillip Dexheimer; Mirna Chehade; Robert A Wood; Robbie D Pesek; Brian P Vickery; David M Fleischer; Robert Lindbad; Hugh A Sampson; Vincent A Mukkada; Phil E Putnam; J Pablo Abonia; Lisa J Martin; John B Harley; Marc E Rothenberg Journal: Nat Genet Date: 2014-07-13 Impact factor: 38.330
Authors: Joanna Kinga Ponińska; Bolesław Samoliński; Aneta Tomaszewska; Filip Raciborski; Piotr Samel-Kowalik; Artur Walkiewicz; Agnieszka Lipiec; Barbara Piekarska; Edyta Krzych-Fałta; Andrzej Namysłowski; Grażyna Kostrzewa; Andrzej Pawlik; Monika Jasek; Andrzej Wiśniewski; Piotr Kuśnierczyk; Sławomir Majewski; Rafał Płoski Journal: PLoS One Date: 2017-09-08 Impact factor: 3.240
Authors: Anna Dêbiñska; Hanna Danielewicz; Anna Drabik-Chamerska; Danuta Kalita; Andrzej Boznañski Journal: Postepy Dermatol Alergol Date: 2020-03-09 Impact factor: 1.837
Authors: Leah C Kottyan; Avery Maddox; Julian R Braxton; Emily M Stucke; Vince Mukkada; Philip E Putnam; J Pablo Abonia; Mirna Chehade; Robert A Wood; Robbie D Pesek; Brian P Vickery; Glenn T Furuta; Peter Dawson; Hugh A Sampson; Lisa J Martin; Jennifer A Kelly; Robert P Kimberly; Kathy Sivils; Patrick M Gaffney; Kenneth Kaufman; John B Harley; Marc E Rothenberg Journal: Genes Immun Date: 2018-06-08 Impact factor: 2.676