title: NEDD4 single nucleotide polymorphism rs2271289 is associated with keloids in Chinese Han population.
abstract: Keloids are abnormally raised fibroproliferative lesions that usually occur following cutaneous traumas. Recently, a large-scale genome-wide association study (GWAS) has identified multiple single nucleotide polymorphisms (SNPs) in three genetic loci that are associated with keloids in Japanese population. Subsequently, two reported loci 1q41 (rs873549 and rs1442440) and 15q21.3 (rs2271289) for keloids were confirmed in selected Chinese population. The association of these SNPs with clinical features of keloids, has not yet been studied. To explore the role of these SNPs in the pathogenesis of keloids, we performed a case-controlled study in another independent Chinese Han population to analyze the correlation between 4 SNPs (rs873549, rs2118610, rs1511412, rs2271289) and keloids phenotypes. 309 keloids patients and 1080 control subjects were included. The results showed that, in the dominant mode of inheritance, the minor allele T of SNP rs2271289 had significantly higher odd ratios (ORs) in the severe keloid group compared with both the controls and the mild keloid group. The ORs were maintained after Bonferroni's correction (OR: 4.09, 95% CI: 1.78-9.37, P-value 3.25E-04). The ratio of the severe: mild OR for rs2271289 (dominant model) is (4.73/1.84=2.57). Similar associations in SNP rs2271289 were seen for groups with no family history and multiplesite compared with the control groups. No associations between keloid number, family history or severity relative to the controls were observed for the other three SNPs. Our data support that rs2271289 is strongly associated with severe keloids and might contribute to the complexity of clinical features of keloids.
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical UniversityHefei 230001, China; Department of Nursing, Affiliated Provincial Hospital, Anhui Medical UniversityHefei 230001, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical UniversityHefei 230001, China; Wannan Medical CollegeWuhu 241002, China.
authors.forename: Sheng-Li
authors.initials: SL
authors.lastname: Liu
authors.affiliation: Nanjing Central Hospital Nanjing 210018, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Xie
authors.affiliation: Nanjing Central Hospital Nanjing 210018, China.
authors.forename: Mao-Qian
authors.initials: MQ
authors.lastname: Ding
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical UniversityHefei 230001, China; Wannan Medical CollegeWuhu 241002, China.
authors.forename: Meng-Zhu
authors.initials: MZ
authors.lastname: Lu
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei 230001, China.
authors.forename: Lan-Fang
authors.initials: LF
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei 230001, China.
authors.forename: Xiu-Hua
authors.initials: XH
authors.lastname: Yao
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei 230001, China.
authors.forename: Bai
authors.initials: B
authors.lastname: Hu
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei 230001, China.
authors.forename: Wen-Sheng
authors.initials: WS
authors.lastname: Lu
authors.affiliation: Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical UniversityHefei, Anhui, China; Department of Dermatology and Venereology, Anhui Medical UniversityHefei, Anhui, China; State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology & Key laboratory of Dermatology, Ministry of EducationHefei, Anhui, China.
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Zheng
keywords: Keloids; NEDD4; SNP rs2271289; association study