基于基因数据库估算中国人群中卟啉症相关基因变异的携带率和流行率

IF 3.4 2区 医学 Q2 GENETICS & HEREDITY
Yinan Wang, Nuoya Li, Songyun Zhang
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引用次数: 0

摘要

卟啉症是一组罕见的代谢性疾病,由编码血红素生物合成途径中关键酶的基因突变引起。然而,由于缺乏对中国人群中卟啉症患者的全面基因分析,识别和诊断卟啉症携带者具有挑战性。我们根据 ACMG 指南,利用 ChinaMAP 数据库确定了 P/LP 卟啉症相关基因变异的频率。我们还计算了在哈代-温伯格平衡下中国人群中每种类型卟啉症的携带率和患病率。与 gnomAD 数据库中的变异相比,中国人群中与卟啉症相关的 P/LP 变异的遗传谱更为明显。在 ChinaMAP 数据库中,我们发现了 23 个变体。我们估计中国人群中常染色体显性卟啉症(AIP、HCP、VP、PCT)的携带率分别为1/1059、1/1513、1/10588和1/1765。常染色体隐性卟啉症(ADP、EPP、HEP、CEP)的估计携带率分别为1/5294、1/2117、1/1765和1/2647,预测患病率分别为8.92×10-9、7.51×10-5、8.02×10-8和3.57×10-8。值得注意的是,我们发现的变异中有 12 个是中国人特有的。在中国人群的各种卟啉症类型中,EPP 的预测患病率最高,而其他类型的患病率则处于中低水平。这是首次对中国人群卟啉症进行全面的遗传学研究。明确中国人群中各种类型卟啉症的遗传特征,为研究和基因筛查卟啉症携带者提供了科学合理的参考数据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases
Porphyria is a group of rare metabolic disorders caused by mutations in the genes encoding crucial enzymes in the heme biosynthetic pathway. However, the lack of comprehensive genetic analysis of porphyria patients in the Chinese population makes identifying and diagnosing carriers of the condition challenging. Using the ChinaMAP database, we determined the frequencies of P/LP porphyria-associated gene variants according to the ACMG guidelines. We also calculated the carrier rates and prevalence of each type of porphyria in the Chinese population under Hardy–Weinberg equilibrium. Compared with the variants in the gnomAD database, the genetic spectrum of porphyria-related P/LP variants in the Chinese population is distinct. In the ChinaMAP database, we identified 23 variants. We estimated the carrier rates for autosomal dominant porphyrias (AIP, HCP, VP, PCT) in the Chinese population to be 1/1059, 1/1513, 1/10588, and 1/1765, respectively. For autosomal recessive porphyrias (ADP, EPP, HEP, CEP), the estimated carrier rates were 1/5294, 1/2117, 1/1765, and 1/2647, respectively, with predicted prevalence rates of 8.92 × 10−9, 7.51 × 10−5, 8.02 × 10−8, and 3.57 × 10−8, respectively. Notably, 12 of the variants we identified were unique to the Chinese population. The predicted prevalence rate of EPP was the highest among the various types of porphyria in the Chinese population, while the others were moderate to low. This is the first comprehensive genetic study on porphyria in the Chinese population. Clarifying the genetic characteristics of various porphyria types among the Chinese population provides scientifically sound reference data for both research and genetic screening to identify porphyria carriers.
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来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
期刊介绍: Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
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