Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.

IF 3.4 2区医学 Q2 GENETICS & HEREDITY Orphanet Journal of Rare Diseases Pub Date : 2024-07-03 DOI:10.1186/s13023-024-03267-x

Jinfu Zhou, Guilin Li, Yinglin Zeng, Xiaolong Qiu, Peiran Zhao, Ting Huang, Xi Wang, Jinying Luo, Na Lin, Liangpu Xu

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Abstract

Background: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and regions. This study aimed to systematically analyze the incidence of PCD in China and delineate regional differences in the prevalence of PCD and SLC22A5 gene variants.

Methods: PubMed, Embase, Web of Science, and Chinese databases were searched up to November 2023. Following quality assessment and data extraction, a meta-analysis was performed on screening results for PCD among Chinese newborns.

Results: After reviewing 1,889 articles, 22 studies involving 9,958,380 newborns and 476 PCD cases were included. Of the 476 patients with PCD, 469 underwent genetic diagnosis, revealing 890 variants of 934 alleles of SLC22A5, among which 107 different variants were detected. The meta-analysis showed that the prevalence of PCD in China was 0.05‰ [95%CI, (0.04‰, 0.06‰)] or 1/20 000 [95%CI, (1/16 667, 1/25 000)]. Subgroup analyses revealed a higher incidence in southern China [0.07‰, 95%CI, (0.05‰, 0.08‰)] than in northern China [0.02‰, 95%CI, (0.02‰, 0.03‰)] (P < 0.001). Furthermore, the result of the meta-analysis showed that the frequency of the variant with c.1400C > G, c.51C > G, c.760C > T, c.338G > A, and c.428C > T were 45% [95%CI, (34%, 59%)], 26% [95%CI, (22%, 31%)], 14% [95%CI, (10%, 20%)], 6% [95%CI, (4%, 8%)], and 5% [95%CI, (4%, 8%)], respectively. Among the subgroup analyses, the variant frequency of c.1400C > G in southern China [39%, 95%CI, (29%, 53%)] was significantly lower than that in northern China [79‰, 95%CI, (47‰, 135‰)] (P < 0.05).

Conclusions: This study systematically analyzed PCD prevalence and identified common SLC22A5 gene variants in the Chinese population. The findings provide valuable epidemiological insights and guidance for future PCD screening effects in newborns.

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对 1000 万中国新生儿进行原发性肉碱缺乏症筛查：系统综述和荟萃分析。

背景：原发性肉碱缺乏症（PCD）是一种由SLC22A5基因变异引起的罕见常染色体隐性脂肪酸氧化障碍性疾病，其发病率和SLC22A5基因突变谱在不同种族和地区存在差异。本研究旨在系统分析PCD在中国的发病率，并划分PCD发病率和SLC22A5基因变异的地区差异：方法：检索了截至2023年11月的PubMed、Embase、Web of Science和中文数据库。在进行质量评估和数据提取后，对中国新生儿PCD筛查结果进行了荟萃分析：结果：在查阅了1889篇文章后，共纳入了22项研究，涉及9958380名新生儿和476个PCD病例。在476例PCD患者中，469例接受了基因诊断，发现了SLC22A5的934个等位基因中的890个变异，其中107个变异被检测到。荟萃分析显示，中国的 PCD 患病率为 0.05‰ [95%CI, (0.04‰, 0.06‰)]或 1/20 000 [95%CI, (1/16 667, 1/25 000)]。亚组分析显示，华南地区的发病率[0.07‰，95%CI，（0.05‰，0.08‰）]高于华北地区[0.02‰，95%CI，（0.02‰，0.03‰）]（P G、c.51C > G、c.760C > T、c.338G > A 和 c.428C > T 分别为 45% [95%CI，（34%，59%）]、26% [95%CI，（22%，31%）]、14% [95%CI，（10%，20%）]、6% [95%CI，（4%，8%）] 和 5% [95%CI，（4%，8%）]。在亚组分析中，华南地区c.1400C > G的变异频率[39%，95%CI，（29%，53%）]明显低于华北地区[79‰，95%CI，（47‰，135‰）]（P 结论：华南地区c.1400C > G的变异频率明显高于华北地区：本研究系统分析了中国人群的 PCD 患病率，并确定了常见的 SLC22A5 基因变异。研究结果为今后新生儿 PCD 筛查提供了有价值的流行病学见解和指导。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.