汉族长寿老人中 DC-SIGNR 的颈区多态性。
The neck-region polymorphism of DC-SIGNR in peri-centenarian from Han Chinese population.
机构信息
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, PR China.
出版信息
BMC Med Genet. 2009 Dec 14;10:134. doi: 10.1186/1471-2350-10-134.
BACKGROUND
DC-SIGNR (also called CD209L) has been extensively studied on its role in host genetic predisposition to viral infection. In particular, variable number tandem repeat (VNTR) of the neck-region of DC-SIGNR is highly polymorphic and the polymorphism has been investigated for genetic predisposition to various infectious diseases, though conflicting results had been reported. As infection is a major cause of human death and a mechanism of natural selection, we hypothesized that VNTR polymorphism of DC-SIGNR might have an effect on human life span.
METHODS
Here we collected 361 peri-centenarian individuals (age >or=94 for female and age >or=90 for male) and 342 geographically matched controls (age 22-53, mean 35.0 +/- 12.0) from Han Chinese. The VNTR polymorphism of the neck region was determined by PCR and genotype was called by separating the PCR products in agarose gel.
RESULTS
A total of 11 genotypes and 5 alleles were found in our population. The genotype distribution, allele frequencies and homozygote proportion did not show a significant difference between peri-centenarian and control group. As gender differences in lifespan are ubiquitously observed throughout the animal kingdom, we then stratified the samples by gender. There was more 6/7 genotypes in female peri-centenarian group than that in female control group, at a marginal level of significance (5.56 vs. 1.28%, p = 0.041). The difference was not significant after correction by Bonferroni method. It suggests a possible differential effect of DC-SIGNR VNTR genotypes between sexes. Further studies are warranted to confirm our preliminary findings and investigate the mechanisms of the underlying functions.
CONCLUSIONS
Our study indicated that there was absence of association between the neck region polymorphism of DC-SIGNR and longevity in Han Chinese population. But the question of whether the DC-SIGNR could affect longevity in a gender-specific pattern remains open.
背景
DC-SIGNR（也称为 CD209L）在宿主对病毒感染的遗传易感性方面的作用已得到广泛研究。特别是，DC-SIGNR 颈部区域的可变数量串联重复（VNTR）高度多态，该多态性已被研究用于各种传染病的遗传易感性，尽管报道的结果存在冲突。由于感染是人类死亡的主要原因，也是自然选择的机制，我们假设 DC-SIGNR 的 VNTR 多态性可能对人类寿命有影响。
方法
我们从汉族人群中收集了 361 名准百岁老人（女性年龄≥94 岁，男性年龄≥90 岁）和 342 名地理匹配的对照者（年龄 22-53 岁，平均 35.0±12.0 岁）。通过 PCR 确定颈部区域的 VNTR 多态性，并通过在琼脂糖凝胶中分离 PCR 产物来调用基因型。
结果
在我们的人群中发现了 11 种基因型和 5 种等位基因。准百岁老人组和对照组之间的基因型分布、等位基因频率和纯合子比例没有显著差异。由于寿命在整个动物界都存在性别差异，因此我们按性别对样本进行分层。女性准百岁老人组中 6/7 基因型的比例高于女性对照组，具有边缘统计学意义（5.56%比 1.28%，p=0.041）。经 Bonferroni 方法校正后，差异无统计学意义。这表明 DC-SIGNR VNTR 基因型在性别之间可能存在差异作用。需要进一步的研究来证实我们的初步发现并探讨潜在功能的机制。
结论
我们的研究表明，在中国汉族人群中，DC-SIGNR 颈部区域多态性与长寿之间没有关联。但是，DC-SIGNR 是否以性别特异性的方式影响长寿的问题仍然存在。
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