TIMP2 genetic variation rs4789932 may associate with an increased risk of developing acne scarring based on a case-control study of Chinese Han population

Background: Acne vulgaris is a common chronic inflammatory cutaneous disorder that has a higher prevalence in adolescents and young adults. Previous studies have indicated that both genetic and environmental factors contribute to its risk. The protein encoded by the TIMP2 gene is a natural inhibitor of matrix metalloproteinases (MMPs). Changes in TIMP2 expression are speculated to disrupt the TIMP/MMP balance and result in acne scarring.

Aims: Our study aimed to comprehensively explore the potential genetic susceptibility of TIMP2 to acne scarring based on a case-control study.

Patients and methods: In total, 1060 patients with acne scarring (cases) and 2162 patients without acne scarring (controls) were enrolled in the present study. Seventeen tag single-nucleotide polymorphisms (SNPs) in the TIMP2 gene were selected for genotyping. Genetic association analyses were conducted at both the single marker and haplotypic levels. Single marker-based association analyses were performed in the genotypic model and allelic model. The distributions of clinical variables in different genotype groups of targeted SNPs in patients with acne scarring were also examined.

Results: SNP rs4789932 was identified to be significantly associated with the risk of acne scarring in both the genotypic model (p = 0.001) and allelic model (p = 0.0002). The C allele of SNP rs4789932 was significantly associated with an increased risk of acne scarring (OR [95% CI] = 1.23 [1.10-1.37]). Significant differences were identified between the SNP rs4789932 genotypes and the clinical severity of acne scarring (p < 2.2 × 10^-16 ). The C allele of SNP rs4789932 was associated with severe clinical features of acne scarring.

Conclusions: A significant genetic marker of the promoter region in TIMP2 was identified to contribute to the risk of acne scarring in the Chinese Han population and was significantly associated with the clinical severity of acne scarring in patients.