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目的探讨中国人散发性肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)致病风险与碳水化合物激酶域包含(carbohydrate kinase domain containing,FGGY,又称FLJ10986)基因中rs6700125的关联,及其是否与其他人群相同。方法提取外周血基因组样本DNA,采用两种方法进行单核苷酸多态性(SNP)分型,第一部分样本以不对称PCR扩增包含目标SNP在内的片段,采用高分辨熔解法完成非标记探针的基因分型,第二部分样本采用质谱分型。结果完成了中国汉族人群组成的143例ALS患者与153名正常对照之间rs6700125位点的基因分型。rs6700125基因型Hardy-Weinberg平衡采用Pearson检验、lIr检验、精确检验,结果显示对照组及病例组均符合Hardy-Weinberg平衡,说明本研究的样本为连锁平衡群体,具有群体代表性。rs6700125位点在中国人群为来源的143例ALS患者与153名正常对照之间,等位基因(T/C)频率(OR=1.117,95%CI:0.84～1.62,χ2=0.94,P%=0.331)及基因型频率(OR=1.136,95%CI:0.64～2.013,χ2=0.19,P%=0.662)的差异无统计学意义。结论本研究未发现FGGY基因中的rs6700125位点与中国人散发性ALS的致病风险相关。这可能和ALS本身复杂的遗传异质性相关,也不除外人种差异,有必要根据全基因关联分析的初步结果在中国汉族患者中筛查与发病风险有关的特异易感位点。
Objective To investigate the association between the risk of developing amyotrophic lateral sclerosis (ALS) and rs6700125 in carbohydrate kinase domain containing (FGGY) gene and its relationship with other The same crowd. Methods Genomic DNA samples from peripheral blood were extracted and SNPs were genotyped by two methods. The first part of the sample was amplified by asymmetric PCR, including the target SNP. The high resolution melting method was used to complete the non - The genotyping of the labeled probe, the second part of the sample using mass spectrometry. Results The genotyping of rs6700125 locus between 143 ALS patients and 153 normal controls in Chinese Han population was completed. The Hardy-Weinberg equilibrium of rs6700125 genotype was determined by Pearson test, lIr test and exact test. The results showed that the control group and the case group were in accordance with the Hardy-Weinberg equilibrium, indicating that the samples in this study were group with linkage equilibrium and group representative. The frequency of allele (T / C) (rs = 1.117, 95% CI: 0.84-1.62, χ2 = 0.94, P% = 0.94) was significantly higher in patients with rs6700125 locus than in the 153 normal controls from 143 Chinese patients with ALS 0.331) and genotype frequency (OR = 1.136, 95% CI: 0.64 ~ 2.013, χ2 = 0.19, P% = 0.662). Conclusion This study does not find the locus rs6700125 in FGGY gene is associated with the risk of sporadic ALS in Chinese. This may be related to the complex genetic heterogeneity of ALS itself, not to exclude ethnic differences. It is necessary to screen specific susceptibility loci associated with the risk of developing in Chinese Han patients based on the preliminary results of whole genome association analysis.