Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?
Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?
复制标题
泰国脊髓小脑共济失调亚型的频率：了解人口历史的窗口？
DOI：
--
复制
发表时间：
2009
影响因子：
3.5
通讯作者：
S. Tunlayadechanont
中科院分区：
文献类型：
--
作者：
T. Sura;J. Eu;Supak Youngcharoen;M. Busabaratana;Donniphat Dejsuphong;Objoon Trachoo;S. Theerasasawat;A. Tunteeratum;Chinnakrit Noparutchanodom;S. Tunlayadechanont
脊髓小脑共济失调（SCA）是一组异质性疾病，有近30个亚型。各亚型的患病率和相对频率在不同人群中存在差异。在这篇文章中，我们报告的相对频率SCA亚型在泰国人口，并试图解释观察到的模式相比，在该地区的其他人群。我们使用GeneScan分析在来自182个家庭的340名患者中搜索SCA 1型、SCA 2、SCA 3、SCA 6、SCA 7和齿状核红核-苍白球路易体萎缩突变，其中至少有一人有SCA的临床诊断。我们分析了SCA亚型在家庭基础上的相对频率，并与中国和印度人群的数据进行了比较。SCA 3阳性率为19.2%（Agresti-Coull 95%可信区间为14.1-25.6%），SCA 1阳性率为11.5%（7.6-17.1%），SCA 2阳性率为10.4%（6.7-15.8%）。SCA 6在3个家系中检出，相对频率为1.6%（0.3-5.0%）。与相关人群相比，泰国SCA 3基因频率低于中国人，而高于大多数印度研究中的频率。对于SCA 1/SCA 2频率，情况正好相反。在新加坡进行的一项类似研究也显示了中国人和印度人之间的频率，新加坡有明显的人口混合史。虽然SCA 3是泰国最常见的可识别SCA亚型，但SCA 1和SCA 2也相对常见。我们的研究结果也支持一定程度的混合物与印度人在泰国人口，并证明在该地区进一步研究。
Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern when compared with other populations in this region. We searched for SCA type 1, SCA2, SCA3, SCA6, SCA7 and dentatorubral–pallidoluysian atrophy mutations using GeneScan analysis in 340 patients from 182 families, in which at least one person had a clinical diagnosis of SCA. We analyzed the relative frequencies of SCA subtypes on a family basis, and compared these with the data in the Chinese and Indian populations. SCA3 was found in 19.2% of the patients (Agresti–Coull 95% confidence interval: 14.1–25.6%), SCA1 in 11.5% (7.6–17.1%) and SCA2 in 10.4% (6.7–15.8%). SCA6 was found in three families, with a relative frequency of 1.6% (0.3–5.0%). Compared with the related populations, the Thai SCA3 frequency was less than that of the Chinese, whereas it was higher than that in most of the Indian studies. The reverse is true for the SCA1/SCA2 frequency. A similar study in Singapore, where there was a clear history of population admixture, also showed the frequencies between those of the Chinese and the Indian populations. Although SCA3 was the most common identifiable SCA subtype in Thailand, SCA1 and SCA2 were also relatively common. Our results also supported some degree of admixture with the Indians in the Thai population and justify further study in the area.
影响因子：
9.8
作者：
H. Takano;G. Cancel;T. Ikeuchi;D. Lorenzetti;R. Mawad;G. Stevanin;O. Didierjean;A. Durr;M. Oyake;T. Shimohata;R. Sasaki;R. Koide;S. Igarashi;Shigenobu Hayashi;Y. Takiyama;M. Nishizawa;Hirosato Tanaka;H. Zoghbi;A. Brice;S. Tsuji
通讯作者：
H. Takano;G. Cancel;T. Ikeuchi;D. Lorenzetti;R. Mawad;G. Stevanin;O. Didierjean;A. Durr;M. Oyake;T. Shimohata;R. Sasaki;R. Koide;S. Igarashi;Shigenobu Hayashi;Y. Takiyama;M. Nishizawa;Hirosato Tanaka;H. Zoghbi;A. Brice;S. Tsuji