Abstract
This study investigated rare variants associated with atopic dermatitis. We performed exome analyses on 37 patients who were diagnosed with atopic dermatitis by board-certified dermatologists and had total serum IgE levels greater than 1,000 IU/ml. The exome analysis identified seven variants with <1% allele frequency in Asian (ASN) population of 1000 Genomes Project phase 1 data and >5% allele frequency in the atopic dermatitis exome samples. We then conducted a replication study using 469 atopic dermatitis patients with total serum IgE ≥1,000 IU/ml and 935 Japanese controls to assess the presence of these 7 candidate variants. The replication study confirmed that CYP27A1 rs199691576 (A/G) was associated with atopic dermatitis with high serum IgE levels (P = 0.012, odds ratio = 2.1). CYP27A1 is involved in the metabolism of Vitamin D3, which plays important roles in modulating immune function. Previous studies have reported polymorphisms in Vitamin D pathway genes that are associated with allergy-related phenotypes. Our data confirm the importance of genes regulating the Vitamin D pathway in the development of atopic dermatitis.
This article is protected by copyright. All rights reserved.
from Allergy and Immunology via xlomafota13 on Inoreader http://ift.tt/1PbokWW
from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1U4lcSu
via IFTTT
from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/28aP3yH
via IFTTT
from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1PtD6hk
via IFTTT
from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1U4ozso
via IFTTT
from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/20YOLWj
via IFTTT
from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1Y7JpZO
via IFTTT
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου