Association Study Between Single Nucleotide Polymorphism Of CYP19A1Gene And Adult Acne Vulgaris In Chinese Han Ethnic Group

BackgroundAcne vulgaris is a common chronic inflammatory skin disorder that involves pilosebaceous unit. Androgen plays an essential role in the pathophysiology of acne however which is not yet well understood up to now. Coding gene polymorphism of two synthetic enzymes for androgen and androgen receptor (AR) has been proved to be associated with acne. The aromatase enzyme converts androgens to estrogens and is expressed in sebaceous gland. Sequence variation in the gene encoding aromatase, CYP19A1, might change expression of aromatase, and then imbalance androgen/estrogen, and finally influence the risk of developing acne.ObjectiveOur aim is to explore the association between a genetic polymorphism in CYP19al gene and the development of acne in Chinese Han ethnic group.Methods309Chinese of Han ethnic group with Pillsbury Ⅰ-Ⅳ°acne were enrolled in our study, who were divided into two groups, mild group (Ⅰ°acne,99cases) and moderate-server group (Ⅱ-Ⅳ°acne,210cases). Genomic DNA was extracted from peripheral venous blood of individual patients. SNaPshot technique was used to detect the10candidate SNPs in CYP19al gene after obtaining target segments. Statistics were done by SPSS16.0, Unphase, Hapstata, comparing gene distribution among two groups and analyzing haplotype.Results1. rs6493497was excited as it wasn’t coincident with Hardy-Weinberg equilibrium(p=2.659e-08vs p=3.097e-11for mild group and moderate-server group respectively).2. For SNP rs28892002(overall genotype frequencies, CC54.7%, CT38.2%, CT7.1%), there exists a significant difference between mild group and moderate-server group (p-value<0.05). According to dominant model, the genotype CC was more frequent in moderate-server group (58.6%) than mild group (46.5%)(p-value=0.046). According to allelic model, the allele T was less frequent in moderate-server group (23.8%) than mild group (31.3%)(p-value=0.048). No positive results were drew for the remaining loci.3. Dates showed that there existed a good linkage disequilibrium between rs2255192, rs4646, rs10064,rs700519, and between rs2414096, rs4775936, and between rs28892002, rs752760. According to dominant model, the genotype frequency of C-C-A-C and T-C-A-C for the first haplotype showed a significant difference between mild group and moderate-server group, for p-value0.0000and0.0216respectively, and for OR5.0198and2.0707respectively.ConclusionsThese findings suggest that rs28892002genotype CC might be associated with predisposition to moderate-server acne vulgaris in Chinese Han ethnic group; the genotype C-C-A-C and T-C-A-C for haplotype of rs2255192-rs4646-rs10064-rs700519might be associated with low risk for moderate-server acne vulgaris in Chinese Han ethnic group.