title: A genetic coding variant rs72474224 in GJB2 is associated with clinical features of psoriasis vulgaris in a Chinese Han population.
abstract: Our recent targeted sequencing study identified a missense single-nucleotide polymorphism rs72474224 (c.324C>T) in GJB2. To investigate the correlation between rs72474224 (c.324C>T) and subphenotypes of psoriasis, genotype data for rs72474224 (c.324C>T, p.Val37Ile) was analyzed in 9946 cases and 9906 controls. The additive model provided the best fit for rs72474224 (P = 7.34 × 10(-9)). The genotypic and allelic frequency distributions were associated with plaque psoriasis in case-only (Pgenotype = 2.67 × 10(-3), Pallele = 6.22 × 10(-4)) and subphenotype-control (Pgenotype = 1.58 × 10(-11), Pallele = 8.16 × 10(-12)) analyses. No other significant difference was found in case-only analyses. Rs72474224 in GJB2 is preferentially associated with plaque psoriasis in Chinese population and might contribute to the complexity of psoriasis clinical features.
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.|Department of Dermatology at Anqing Hospital, Anhui Medical University, Hefei, China.
authors.forename: F
authors.initials: F
authors.lastname: Yao
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: M
authors.initials: M
authors.lastname: Yue
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: C
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: X
authors.initials: X
authors.lastname: Zuo
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: X
authors.initials: X
authors.lastname: Zheng
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: A
authors.initials: A
authors.lastname: Zhang
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: S
authors.initials: S
authors.lastname: Liu
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: H
authors.initials: H
authors.lastname: Li
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: L
authors.initials: L
authors.lastname: Meng
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: M
authors.initials: M
authors.lastname: Zeng
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: X
authors.initials: X
authors.lastname: Fan
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: L
authors.initials: L
authors.lastname: Sun
authors.affiliation: Institute of Dermatology and Department of Dermatology, Anhui Medical University, Hefei, China.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
authors.forename: X
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000276:immunology; D005091:Exons; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000208:ethnology / Q000235:genetics* / Q000276:immunology / Q000473:pathology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: GJB2; genotype-phenotype correlation; psoriasis vulgaris; single-nucleotide polymorphism; susceptibility gene