Molecular Epidemiology of Na(+)-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1.
Molecular Epidemiology of Na(+)-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1.
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DOI：
10.3389/fgene.2022.874379
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发表时间：
2022
影响因子：
3.7
通讯作者：
Song, Yuan-Zong
中科院分区：
文献类型：
--
作者：
Li, Hua;Chen, Rong;Lin, Gui-Zhi;Lin, Wei-Xia;Yaqub, Muhammad-Rauf;Song, Yuan-Zong
Na+-牛磺胆酸共转运多肽缺乏症（NTCPD）是一种由双等位基因SLC 10A 1突变引起的常染色体隐性遗传疾病。作为一种新发现的先天性胆汁酸代谢异常，其在中国人群中的流行病学尚不清楚。在这项研究中，从中国人口最多的广东省的12个城市共收集了2，828份外周血样本，并且四种流行的SLC 10A 1变体c.800C > T采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对p.Ser267Phe、c.263T > C（p.Ile88Thr）、c.595A > C（p.Ser199Arg）和c.665T > C（p.Leu222Ser）进行了筛选。结果共检出SLC 10A 1突变等位基因663个，突变等位基因频率为11.72%（663/5,656），携带率为20.69%（1/5），广东省NTCPD理论发病率为1.37%（1/73）。在4种流行变异中，c.800C > T（p.Ser267Phe）等位基因频率最高（χ2 = 1501.27，p < 0.0001），周边地区等位基因频率高于珠江三角洲地区（χ2 = 4.834，p < 0.05）。结果提示NTCPD可能是广东省一种较为常见的疾病。本研究揭示了广东省人群NTCPD的分子流行病学特征，为NTCPD的诊断和管理提供了初步的实验室依据。
Na+-taurocholate cotransporting polypeptide deficiency (NTCPD) is an autosomal recessive disorder arising from biallelic SLC10A1 mutations. As a newly-described inborn error of bile acid metabolism, the epidemiology of this condition remains largely unclear in Chinese population so far. In this study, a total of 2,828 peripheral blood samples were collected from 12 cities in Guangdong, a province with the largest population in China, and the four prevalent SLC10A1 variants c.800C > T (p.Ser267Phe), c.263T > C (p.Ile88Thr), c.595A > C (p.Ser199Arg) and c.665T > C (p.Leu222Ser) were screened for by using polymerase chain reaction (PCR)- restriction fragment length polymorphism (RFLP). As a result, 663 mutated SLC10A1 alleles were detected, and the mutated allele frequency was calculated to be 11.72% (663/5,656), with a carrier frequency 20.69% (1/5) and a theoretical morbidity rate 1.37% (1/73) of NTCPD in Guangdong province. The variant c.800C > T (p.Ser267Phe) exhibited highest allele frequency among the four prevalent variants (χ2 = 1501.27, p < 0.0001) as well as higher allele frequency in the peripheral region than that within the Pearl River Delta (χ2 = 4.834, p < 0.05). The results suggested that NTCPD might be a disorder rather common in Guangdong province. The findings depicted the molecular epidemiologic features of NTCPD, providing preliminary but significant laboratory evidences for the subsequent NTCPD diagnosis and management in Guangdong population.
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