Intractable Rare Dis Res. 2020;9(4):196-204. (DOI: 10.5582/irdr.2020.03082)

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Ma LY, Tian Y, Peng CX, Zhang YR, Zhang SY


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.

KEYWORDS: acute intermittent porphyria, prevalence, penetrance, genetic traits, genotype-phenotype correlation, modifying genes

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