title: Variants in SELL, MRPS36P2, TP63, DDB2, CACNA1H, ADAM19, GNAI1, CDH13 and GABRG2 interact to confer risk of acne in Chinese population.
abstract: Acne vulgaris is a common skin disease characterized by chronic inflammation of the pilosebaceous unit resulting from androgen-induced increased sebum production, altered keratinization, inflammation and bacterial colonization of hair follicles by propionibacterium acnes. Our previous genome-wide association study on acne has identified two new susceptibility loci. To search for potential gene-gene interactions and investigate the best-fit association models for the single nucleotide polymorphisms (SNP) from these interacting genes, we implemented logistic regression analysis in the combined sample of 2916 cases with severe acne and 4716 controls. The most significant association evidence was observed under an additive model for rs6896064 and under a dominant model the rest of these SNP. Significant interactions between these SNP were observed in this study: the SELL × MRPS36P2 (Padjusted = 4.15 × 10(-10)), TP63 × DDB2 (Padjusted = 7.62 × 10(-08)), DDB2 × CACNA1H (Padjusted = 1.89 × 10(-07)), ADAM19 × GNAI1 × CDH13 (Padjusted = 1.22 × 10(-04)) and ADAM19 × GABRG2 × GNAI2 × CDH13 (Pad justed = 6.33 × 10(-05)). These results may contribute to our understanding of acne genetic etiology and account for the additional risk of certain patients.
authors.affiliation: Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China.
authors.forename: HongYan
authors.initials: H
authors.lastname: Wang
authors.forename: MeiHua
authors.initials: M
authors.lastname: Guo
authors.forename: SongKe
authors.initials: S
authors.lastname: Shen
authors.forename: Li
authors.initials: L
authors.lastname: He
authors.forename: XueJun
authors.initials: X
authors.lastname: Zhang
authors.forename: XianBo
authors.initials: X
authors.lastname: Zuo
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
mesh_terms: D051722:ADAM Proteins / Q000235:genetics; D000152:Acne Vulgaris / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D015820:Cadherins / Q000235:genetics; D020747:Calcium Channels, T-Type / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D019206:GTP-Binding Protein alpha Subunits, Gi-Go / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D019041:L-Selectin / Q000235:genetics; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011963:Receptors, GABA-A / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C479952:CACNA1H protein, human; D015820:Cadherins; D020747:Calcium Channels, T-Type; C117669:DDB2 protein, human; D004268:DNA-Binding Proteins; C546279:GABRG2 protein, human; C099972:H-cadherin; D024101:Mitochondrial Proteins; D011963:Receptors, GABA-A; D012269:Ribosomal Proteins; C546935:SELL protein, human; C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D019041:L-Selectin; D051722:ADAM Proteins; C411902:ADAM19 protein, human; C584114:GNAI1 protein, human; D019206:GTP-Binding Protein alpha Subunits, Gi-Go
keywords: acne; genome-wide association study; interaction; single nucleotide polymorphism