Single-nucleotide Polymorphism rs2275294 in ZNF512B is not Associated with Susceptibility to Amyotrophic Lateral Sclerosis in a Large Chinese Cohort.
Single-nucleotide Polymorphism rs2275294 in ZNF512B is not Associated with Susceptibility to Amyotrophic Lateral Sclerosis in a Large Chinese Cohort.
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ZNF512B 中的单核苷酸多态性 rs2275294 与中国大型队列中肌萎缩侧索硬化症的易感性无关
DOI：
10.4103/0366-6999.171421
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发表时间：
2015-12-20
影响因子：
6.1
通讯作者：
Deng M
中科院分区：
文献类型：
--
作者：
Ju XD;Liu T;Chen J;Li XG;Liu XX;Liu WC;Wang K;Deng M
背景资料：肌萎缩侧索硬化症（ALS）是一种致命的神经退行性疾病，主要影响运动神经元，目前尚无有效的治疗方法。最近，Iida等人在ZNF 512 B基因中发现了一个单核苷酸多态性（SNP）rs 2275294，该基因与日本人群中ALS的易感性显著相关。在此，我们进行了一项病例对照研究，在一个大型中国队列中检查rs 2275294与散发性ALS（SALS）风险的可能关联。研究方法：为了评估这种关联，我们对2004年1月至2013年12月在中国北京大学第三医院和安徽医科大学第一附属医院招募的953名SALS患者和1039名年龄和性别匹配的健康对照者进行了重复研究。我们使用聚合酶链反应和直接测序对rs 2275294 SNP进行基因分型。结果：ZNF 512 B基因rs 2275294等位基因频率在日本人和中国人之间存在差异。中国ALS患者与对照组之间的相关性未达到统计学显著性（P = 0.54;比值比= 0.94; 95%置信区间= 0.76-1.15）。结论：ZNF 512 B基因rs 2275294位点多态性与中国人群ALS易感性无关。我们的研究强调了ALS易感性在不同人群中的遗传异质性。鉴于我们的阴性结果，未来应在不同种族中进行更大和更同质的样本的进一步复制研究。
Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that primarily affects motor neurons and has no effective treatment. Recently, Iida et al. identified a single-nucleotide polymorphism (SNP) rs2275294 in the ZNF512B gene that is significantly associated with susceptibility to ALS in the Japanese population. Here, we performed a case–control study examining the possible association of rs2275294 with risk of sporadic ALS (SALS) in a large Chinese cohort. Methods: To assess this association, we performed a replication study in 953 SALS patients and 1039 age- and gender-matched healthy control subjects, who were recruited from Peking University Third Hospital and the First Affiliated Hospital of Anhui Medical University from January 2004 to December 2013 throughout China. We genotyped the rs2275294 SNP using polymerase chain reaction and direct sequencing. Results: The allele frequency of rs2275294 in ZNF512B was different between Japanese and Chinese. The association in Chinese between ALS patients and controls did not reach statistical significance (P = 0.54; odds ratio = 0.94; 95% confidence interval = 0.76–1.15). Conclusions: The SNP rs2275294 in ZNF512B is not considered to be associated with ALS susceptibility in the Chinese population. Our study highlights genetic heterogeneity in ALS susceptibility in different population. Given our negative results, further replication study involving larger and more homogeneous samples in different ethnicities should be performed in the future.