Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan, People's Republic of China.
Neurosci Lett. 2013 Sep 27;552:58-61. doi: 10.1016/j.neulet.2013.07.031. Epub 2013 Jul 31.
Recent GWASs have implicated many novel SNPs in the development of Parkinson's disease (PD). Single nucleotide polymorphism (SNP) rs2046571 of the HSA2 (encoding hyaluronan synthase 2) was reported to have marginal association with PD. Herein, we conducted a case-control study to evaluate the possible association between SNP rs2046571 and PD in Chinese. All subjects (1043 PD patient and 1044 normal control) were successfully genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. No statistically significant difference in genotype frequency between cases and controls was observed (P=0.074), no statistically significant difference in genotype frequency between early-onset and late-onset was observed (P=0.264 and P=0.120, respectively). No statistically significant difference in genotype frequency between male cases and controls (P=0.108). But surprisingly, there was statistically marginal significant difference in genotype frequency between female cases and controls (P=0.042). Our findings suggested that rs2046571 of the HSA2 has marginal association with PD in Chinese population.
最近的全基因组关联研究（GWASs）表明，许多新的单核苷酸多态性（SNPs）与帕金森病（PD）的发生有关。HSA2（编码透明质酸合酶 2）上的 SNP rs2046571 与 PD 有边缘关联。在此，我们进行了一项病例对照研究，以评估 SNP rs2046571 与中国人 PD 之间的可能关联。所有受试者（1043 例 PD 患者和 1044 例正常对照）均成功通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析进行了基因分型。病例组和对照组的基因型频率无统计学差异（P=0.074），早发性和晚发性病例的基因型频率无统计学差异（P=0.264 和 P=0.120）。男性病例和对照组的基因型频率无统计学差异（P=0.108）。但令人惊讶的是，女性病例和对照组的基因型频率有统计学上的边缘显著差异（P=0.042）。我们的研究结果表明，HSA2 的 rs2046571 与中国人群的 PD 有边缘关联。
