CAJ | 학술논문

目的：阿尔茨海默病（ AD）是最常见的神经退行性疾病，与基因的多态性有关，包括内皮一氧化氮合酶3（ NOS3）发生变化。 NOS分解一氧化氮，并且在血脑屏障中起到有关键作用。探索NOS3基因（ rs1799983，G）与中国南方人群阿尔茨海默病患病风险的关联。方法采用病例-对照研究，在74例散发性患者和139例对照者中，对NOS3基因（rs1799983， G）进行两组间的等位基因及遗传模型基因型差异分析，NOS3基因使用聚合酶连反应-限制性内切酶（ PCR-RFLP）方法分型并测序进行验证。结果①NOS3基因（rs1799983，G）风险等位基因和基因型的频率在病例组和对照间组间的分布无显著性差异（P＞0.05）。②NOS3基因（rs1799983，G）在AD患者中携带ApoE4与非携带ApoEε4两组间基因型频率无显著性差异。结论研究显示NOS3基因rs1799983，G可能与中国南方人群AD患病风险无关联。
목적：아이자해묵병（ AD）시최상견적신경퇴행성질병，여기인적다태성유관，포괄내피일양화담합매3（ NOS3）발생변화。 NOS분해일양화담，병차재혈뇌병장중기도유관건작용。탐색NOS3기인（ rs1799983，G）여중국남방인군아이자해묵병환병풍험적관련。방법채용병례-대조연구，재74례산발성환자화139례대조자중，대NOS3기인（rs1799983， G）진행량조간적등위기인급유전모형기인형차이분석，NOS3기인사용취합매련반응-한제성내절매（ PCR-RFLP）방법분형병측서진행험증。결과①NOS3기인（rs1799983，G）풍험등위기인화기인형적빈솔재병례조화대조간조간적분포무현저성차이（P＞0.05）。②NOS3기인（rs1799983，G）재AD환자중휴대ApoE4여비휴대ApoEε4량조간기인형빈솔무현저성차이。결론연구현시NOS3기인rs1799983，G가능여중국남방인군AD환병풍험무관련。
Objective Alzheimer's disease ( AD ) is the most common neurodegenerative disease , related to genetic polymor-phisms;including endothelial nitric oxide synthase 3(NOS3)varies.NOS break down nitric oxide and have a key role in blood brain barrier regulation.To explore NOS3 gene ( rs1799983, G ) associated with Alzheimer's diseaserisk in southern Chinese popula-tion.Methods 74 AD cases and 139 age-matched non-demented controls from the Southern Chinese population were used in this study,and their blood samples were collected for genotyping.SNPs(rs1799983 G)in NOS3 and APOE(ε2,3,4)alleleswere deter-mined by restriction analysis and sequencing.Results The rs1799983 G polymorphism in NOS3 gene wasnot identified to be associ-ated with AD in the southern Chinese population .①NOS3 gene( rs1799983,G) risk allele and genotype frequencies between cases and controls was no significant difference (P>0.05).②NOS3 gene(rs1799983,G)in patients with AD between theApoEε4 car-riesand ApoEε4 no carriesgenotype frequency have no significant difference.Conclusion The study shows that NOS 3 gen-ers1799983,G was noassociated withAD risk in the southern China population.