Recent advances in the epidemiology and genetics of acute intermittent porphyria

• Published in: Intractable & Rare Diseases Research Vol. 9; no. 4; pp. 196 - 204
• Main Authors: Ma, Liyan, Tian, Yu, Peng, Chenxing, Zhang, Yiran, Zhang, Songyun
• Format: Journal Article
• Language: English
• Published: Japan International Research and Cooperation Association for Bio & Socio-Sciences Advancement 01.11.2020
• Subjects: acute intermittent porphyria; genetic traits; genotype-phenotype correlation; modifying genes; penetrance; prevalence; Review; prevalence; genetic traits; modifying genes; acute intermittent porphyria; genotype-phenotype correlation; penetrance
• ISSN: 2186-3644; 2186-361X
• DOI: 10.5582/irdr.2020.03082

Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. In addition, quite a few studies have indicated that AIP susceptibility was affected by other factors, such as modifying genes. Findings regarding possible modifying genes are documented here, helping to reveal the pathogenesis of and treatments for AIP. The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.