Genetic susceptibility for chronic lymphocytic leukemia among Chinese in Hong Kong

Genetic susceptibility for chronic lymphocytic leukemia among Chinese in Hong Kong
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DOI:
10.1111/j.1600-0609.2010.01518.x
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发表时间:
2010-12-01
影响因子:
3.1
通讯作者:
Rothman, Nathaniel
Rothman, Nathaniel
中科院分区:
医学3区
文献类型:
--
作者:
Lan, Qing;Au, Wing-Yan;Rothman, Nathaniel

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慢性淋巴细胞白血病(CLL)的遗传学基础迄今尚未完全阐明。虽然它是高加索人最常见的血液系统恶性肿瘤,但在亚洲人中并不常见。最近在英国对高加索人的CLL进行的全基因组扫描发现,有六种变异显示出很强的相关性。我们试图在71名慢性淋巴细胞性白血病患者和1273名香港中国人对照中复制这些发现。6个变异体中有3个与慢性淋巴细胞性白血病显著相关。IRF4基因区域的rs872071变异(优势比(95%可信区间)=1.78(1.25-2.53),P=0.0013)显示出最强的相关性,与英国的研究报告相似。SP140和ACOXL基因多态性也与慢性淋巴细胞性白血病的风险相关。此外,与高加索人相比,中国人6个变种的平均等位基因频率中等(59%)到极低(0.5%)。这些结果提示,三个基因座的变异可能与中国人慢性淋巴细胞白血病的发病风险有关。
The genetic basis of chronic lymphocytic leukemia (CLL) has not been fully elucidated to date. Although it is the most common haematological malignancy in Caucasians, it is uncommon among Asians. A recent genome-wide scan of CLL in Caucasians, which was carried out in the UK, identified six variants showing strong association. We attempted to replicate these findings in 71 patients with CLL and 1273 controls in Hong Kong Chinese. Three of the six variants were significantly associated with CLL. The rs872071 variant (Odds Ratio (95% Confidence Interval) = 1.78 (1.25-2.53), P = 0.0013) in the IRF4 gene region showed the strongest association, similar to that reported in the UK study. Polymorphisms in SP140 and ACOXL were also associated with risk of CLL. Further, the mean allele frequencies of the six variants were moderately (59%) to extremely (0.5%) lower in the Chinese population compared with Caucasians. These results suggest that variants in three loci may contribute to risk of CLL among Chinese.