title: A functional polymorphism in interleukin-1α (IL1A) gene is associated with risk of alopecia areata in Chinese populations.
abstract: Alopecia areata (AA) is an inflammatory hair loss disorder with a major genetic component, which may cause great psychosocial distress for those affected. Studies have shown that interleukin-1 (IL-1) is a very potent inducer of hair loss and a significant human hair growth inhibitor. The 4-bp insertion/deletion (Indel) polymorphism (rs3783553) within the 3' untranslated regions of IL1A gene has been suggested to be associated with risk of various types of cancers, possibly through regulating expression of IL-1α levels. In the current study, we estimated the susceptibility to AA associated with rs3783553 in two independent case-control panels of Eastern and Southern Chinese populations, totally containing 313 AA cases and 626 healthy controls. Logistic regression analysis showed that the heterozygote and the homozygote 4-bp ins/ins confer a significantly lower risk of AA in both panels and total subjects [odds ratio (OR)=0.55, 95% confidence interval (C.I.)=0.41-0.75, P=6.24×10(-5); OR=0.47, 95% C.I.=0.28-0.76, P=0.001, respectively]. Stratification analysis based on age onset showed that the protective roles of ins/del and ins/ins genotype against developing AA was more obvious in AA patients with early age onset (<30years) under dominant model (OR=0.48, 95% C.I.=0.29-0.77, P=0.001). The results of luciferase assay showed that rs3783553 could influence expression of IL-1α in a miR-122 dependant manner. Taken together, our results suggested that the IL1A 4-bp indel polymorphism may be a marker for genetic susceptibility to patchy (mild) AA in Chinese populations, likely through miR-122 mediated regulation.
authors.affiliation: Department of Dermatology, the Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, PR China.
authors.forename: Dandan
authors.initials: D
authors.lastname: Lu
authors.forename: Lingling
authors.initials: L
authors.lastname: Chen
authors.forename: Xin
authors.initials: X
authors.lastname: Shi
authors.forename: Xiaoting
authors.initials: X
authors.lastname: Zhang
authors.forename: Xin
authors.initials: X
authors.lastname: Ling
authors.forename: Xiaojian
authors.initials: X
authors.lastname: Chen
authors.forename: Lixia
authors.initials: L
authors.lastname: Xie
authors.forename: Lingling
authors.initials: L
authors.lastname: Jiang
authors.forename: Lan
authors.initials: L
authors.lastname: Ding
authors.forename: Yan
authors.initials: Y
authors.lastname: He
authors.forename: Xingqi
authors.initials: X
authors.lastname: Zhang
mesh_terms: D020413:3' Untranslated Regions; D000293:Adolescent; D000328:Adult; D000506:Alopecia Areata / Q000235:genetics*; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053582:Interleukin-1alpha / Q000235:genetics*; D008297:Male; D035683:MicroRNAs / Q000235:genetics; D016254:Mutagenesis, Insertional; D011110:Polymorphism, Genetic / Q000235:genetics*; D012306:Risk; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; C508584:IL1A protein, human; D053582:Interleukin-1alpha; C531907:MIRN122 microRNA, human; D035683:MicroRNAs