TY - JOUR
T1 - ATG16L1 gene polymorphisms are associated with palmoplantar pustulosis
AU - Douroudis, Konstantinos
AU - Kingo, Külli
AU - Traks, Tanel
AU - Rätsep, Ranno
AU - Silm, Helgi
AU - Vasar, Eero
AU - Kõks, Sulev
N1 - Funding Information:
This study was supported by a grant from the European Union through the European Regional Development Fund and the Archimedes Foundation , by the Estonian Ministry of Education Grant Number SF0180043s07 , and by the Estonian Science Foundation Grant Number 7549 .
PY - 2011/7
Y1 - 2011/7
N2 - Genes in autophagy pathway play an important role in innate and adaptive immunity. The aim of the study was to assess the impact of ATG16L1 gene on susceptibility of palmoplantar pustulosis. Four single nucleotide polymorphisms (SNPs) within the ATG16L1 region (rs2241880, rs2241879, rs7587633, and rs13005285) were genotyped in 241 control subjects and 38 palmoplantar pustulosis (PPP) patients of Estonian descent. The data analysis revealed a significantly higher frequency distribution of the rs2241880 G (odds ratio [OR] = 1.88, p = 0.0073) and rs2241879 A (OR = 1.87, p = 0.0079) allele in the PPP group when compared with the control group. The frequency distribution of the GACG haplotype was significantly higher (OR = 1.82, p = 0.016) in the PPP group when compared with the control group. The current study provides evidence of an association of the ATG16L1 gene in susceptibility to palmoplantar pustulosis, and supports the notion that the ATG16L1 gene as a member of the autophagy pathway most likely plays an important role in immune response.
AB - Genes in autophagy pathway play an important role in innate and adaptive immunity. The aim of the study was to assess the impact of ATG16L1 gene on susceptibility of palmoplantar pustulosis. Four single nucleotide polymorphisms (SNPs) within the ATG16L1 region (rs2241880, rs2241879, rs7587633, and rs13005285) were genotyped in 241 control subjects and 38 palmoplantar pustulosis (PPP) patients of Estonian descent. The data analysis revealed a significantly higher frequency distribution of the rs2241880 G (odds ratio [OR] = 1.88, p = 0.0073) and rs2241879 A (OR = 1.87, p = 0.0079) allele in the PPP group when compared with the control group. The frequency distribution of the GACG haplotype was significantly higher (OR = 1.82, p = 0.016) in the PPP group when compared with the control group. The current study provides evidence of an association of the ATG16L1 gene in susceptibility to palmoplantar pustulosis, and supports the notion that the ATG16L1 gene as a member of the autophagy pathway most likely plays an important role in immune response.
KW - ATG16L1
KW - Palmoplantar pustulosis
KW - SNP
UR - http://www.scopus.com/inward/record.url?scp=79958290829&partnerID=8YFLogxK
U2 - 10.1016/j.humimm.2011.03.009
DO - 10.1016/j.humimm.2011.03.009
M3 - Article
C2 - 21513755
AN - SCOPUS:79958290829
SN - 0198-8859
VL - 72
SP - 613
EP - 615
JO - Human Immunology
JF - Human Immunology
IS - 7
ER -