Miyake Yoshihiro, Tanaka Keiko, Fukushima Wakaba, Kiyohara Chikako, Sasaki Satoshi, Tsuboi Yoshio, Oeda Tomoko, Shimada Hiroyuki, Kawamura Nobutoshi, Sakae Nobutaka, Fukuyama Hidenao, Hirota Yoshio, Nagai Masaki, Nakamura Yoshikazu
Department of Epidemiology and Preventive Medicine, Ehime University Graduate School of Medicine, Ehime 791-0295, Japan.
Department of Epidemiology and Preventive Medicine, Ehime University Graduate School of Medicine, Ehime 791-0295, Japan.
J Neurol Sci. 2016 Mar 15;362:47-52. doi: 10.1016/j.jns.2016.01.021. Epub 2016 Jan 14.
Epidemiological evidence on the relationships between PARK16 single nucleotide polymorphisms (SNPs) and Parkinson's disease (PD) is inconsistent. We examined this issue in Japan. Included were 229 cases within six years of PD onset. Controls were 356 patients without neurodegenerative disease. Compared with subjects with the AA genotype of SNP rs823128, those with the AG genotype, but not the GG genotype, had a significantly reduced risk of sporadic PD. Compared with the AA genotype of SNP rs947211, both the AG genotype and the GG genotype were significantly related to an increased risk of sporadic PD. Using subjects with the AA genotype of SNP rs823156 as a reference group, there were significant inverse relationships under the additive and dominant models. No significant relationships were found between SNPs rs16856139 or rs11240572 and sporadic PD. The CAAAC, the TGAGA, and the CAGAC haplotypes were significantly related to sporadic PD. The additive interaction between SNP rs823128 and smoking affecting sporadic PD was significant, although the multiplicative interaction was not significant. The PARK16 SNPs rs823128, rs947211, and rs823156 and the CAAAC, TGAGA, and CAGAC haplotypes may be significantly associated with sporadic PD in Japan. New evidence of an additive interaction between SNP rs823156 and smoking is suggested.
关于PARK16单核苷酸多态性（SNP）与帕金森病（PD）之间关系的流行病学证据并不一致。我们在日本对这一问题进行了研究。纳入的患者为229例发病6年内的PD患者。对照组为356例无神经退行性疾病的患者。与SNP rs823128的AA基因型受试者相比，AG基因型受试者患散发性PD的风险显著降低，而GG基因型受试者则不然。与SNP rs947211的AA基因型相比，AG基因型和GG基因型均与散发性PD风险增加显著相关。以SNP rs823156的AA基因型受试者作为参照组，在加性模型和显性模型下存在显著的负相关关系。未发现SNP rs16856139或rs11240572与散发性PD之间存在显著关系。CAAAC、TGAGA和CAGAC单倍型与散发性PD显著相关。SNP rs823128与吸烟之间对散发性PD的加性交互作用显著，尽管乘性交互作用不显著。在日本，PARK16基因的SNP rs823128、rs947211和rs823156以及CAAAC、TGAGA和CAGAC单倍型可能与散发性PD显著相关。提示了SNP rs823156与吸烟之间存在加性交互作用的新证据。
