Recent advances in the epidemiology and genetics of acute intermittent porphyria

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, a...

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Published inIntractable & 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
LanguageEnglish
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
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Abstract 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.
AbstractList 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.
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.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.
Author Zhang, Yiran
Tian, Yu
Ma, Liyan
Zhang, Songyun
Peng, Chenxing
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  fullname: Ma, Liyan
  organization: Department of Endocrinology, The second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China
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  fullname: Tian, Yu
  organization: Department of Endocrinology, The second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China
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  fullname: Peng, Chenxing
  organization: Department of Endocrinology, The second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China
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  fullname: Zhang, Yiran
  organization: School of First Clinical Medical College, Southern Medical University, Guangzhou, Guangdong, China
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  fullname: Zhang, Songyun
  organization: Department of Endocrinology, The second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China
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Snippet Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for...
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SubjectTerms acute intermittent porphyria
genetic traits
genotype-phenotype correlation
modifying genes
penetrance
prevalence
Review
Title Recent advances in the epidemiology and genetics of acute intermittent porphyria
URI https://www.jstage.jst.go.jp/article/irdr/9/4/9_2020.03082/_article/-char/en
https://www.ncbi.nlm.nih.gov/pubmed/33139978
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https://pubmed.ncbi.nlm.nih.gov/PMC7586877
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