Chinese researchers have identified a gene linked to severe acne in Han Chinese, the largest ethnic group in China.
In 2014, researchers from Kunming Institute of Zoology, under the Chinese Academy of Sciences, and the First Affiliated Hospital of Kunming Medical University identified SELL and DDB2, two genes that are involved in androgen metabolism, inflammation and scar formation in severe acne in Han Chinese.
According to the researchers, the 2014 study is a genome-wide association study (GWAS) and focused on “common variants,” or genetic variants that are expected to be found in most of the general population manifesting a certain disease.
In recent years, scientists have found that common variants alone did not explain the genetic basis of human diseases. More studies showed that rare genetic variants occurring at low frequency in a population may play a significant role in human diseases.
Identity-by-descent (IBD) mapping has been emerging as a novel way in recent years to detect rare variants in existing GWAS datasets. In the new study, researchers applied IBD to analyze data from a 2014 study and identified F13A1, a gene linked to severe acne.
In the research article published online on the Journal of Investigative Dermatology, the researchers said previous studies found that mutations of F13A1 will increase the level of Interleukin 6 which is involved in the formation of acne.
The study is expected to provide new perspectives on early diagnosis and intervention of severe acne.
Appearing as small to large painful and pus-filled red bumps, acne is a skin condition resulting from clogged pores. The Pillsbury acne grading scale classifies the severity from Grade 1 (least severe) to Grade 4 (most severe). For Grade 4, many comedones and deep lesions tend to join together into a continuous area on the cheeks and upper forehead.