Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne
September 2021
in “
International Journal of Biomedicine
”
steroidogenesis severe acne single nucleotide polymorphisms SNPs MVK gene ARPCIB gene CA2 gene androgen estrogen 3'UTR exons introns genetic predisposition androgen/estrogen ratios blood serum hereditary component pathophysiology of acne steroid production MVK ARPCIB CA2 male hormones female hormones genetic risk hormone balance blood levels genetic inheritance acne causes
TLDR Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
The study examined the relationship between single nucleotide polymorphisms (SNPs) in genes involved in steroidogenesis and severe acne in 70 participants, with 50 patients having severe acne and 20 serving as healthy controls. The researchers found 12 SNPs in the MVK gene, 7 in the ARPCIB gene, and 9 in the CA2 gene associated with severe acne. Additionally, certain SNPs were linked to an increased risk of developing severe acne, while others seemed to offer protection. Specifically, 5 SNPs in the ARPCIB gene and 1 SNP in the 3'UTR, all 3 SNPs in the exons of the CA2 gene, and 6 SNPs in its introns were associated with severe acne, whereas 2 SNPs in the CA2 gene appeared protective. The study concluded that these SNPs suggest a genetic predisposition to altered steroidogenesis, which may lead to an imbalance in androgen/estrogen ratios in the blood serum of patients with severe acne, although within normal hormonal ranges, indicating a hereditary component in the pathophysiology of acne.
