CAJ | 학술논문

目的：探讨CYP2C9-1601A/C基因多态性在广东地区特发性房颤患者中的分布及其对华法林用量的影响。方法选择广东地区特发性房颤患者150例为病例组，正常人群120例作为对照组，采用PCR-RFLP方法检测CYP2C9基因，比较两组CYP2C9-1601A/C基因型分布特征，并对不同基因型的特发性房颤患者华法林用量进行对比分析。结果 CYP2C9基因1601位A碱基突变为C后，能够被Kpn Ⅰ内切酶识别，产生134 bp和18 bp两个片段。特发性房颤患者中，CYP2C9-1061 AA型105例（70．0％），AC型40例（26．7％），CC型5例（3．3％）。 AC型比例显著高于正常人群（χ2＝13．3259，P＝0．0003），AA型比例显著低于正常人群（χ2＝14．5200，P＝0．0000），CC型发生率两组无显著差异（χ2＝0．2218，P＝0．6377）。AC型及CC型患者华法林用量（3．62±0．58）mg、（3．12±0．16）mg均显著低于AA型的（4．28±0．63）mg（P＜0．01）；CC型患者低于AC型（P＜0．05）。结论广东地区特发性房颤患者中存在较多的 CYP2C91061A/C 基因多态性，并且 CYP2C91061A/C突变使患者的华法林用量减低，可作为临床个体化用药的参考。
목적：탐토CYP2C9-1601A/C기인다태성재엄동지구특발성방전환자중적분포급기대화법림용량적영향。방법선택엄동지구특발성방전환자150례위병례조，정상인군120례작위대조조，채용PCR-RFLP방법검측CYP2C9기인，비교량조CYP2C9-1601A/C기인형분포특정，병대불동기인형적특발성방전환자화법림용량진행대비분석。결과 CYP2C9기인1601위A감기돌변위C후，능구피Kpn Ⅰ내절매식별，산생134 bp화18 bp량개편단。특발성방전환자중，CYP2C9-1061 AA형105례（70．0％），AC형40례（26．7％），CC형5례（3．3％）。 AC형비례현저고우정상인군（χ2＝13．3259，P＝0．0003），AA형비례현저저우정상인군（χ2＝14．5200，P＝0．0000），CC형발생솔량조무현저차이（χ2＝0．2218，P＝0．6377）。AC형급CC형환자화법림용량（3．62±0．58）mg、（3．12±0．16）mg균현저저우AA형적（4．28±0．63）mg（P＜0．01）；CC형환자저우AC형（P＜0．05）。결론엄동지구특발성방전환자중존재교다적 CYP2C91061A/C 기인다태성，병차 CYP2C91061A/C돌변사환자적화법림용량감저，가작위림상개체화용약적삼고。
Objective To explore the distribution of CYP2C9-1061A/C gene polymorphism in patients with idiopathic paroxysmal atrial fibrillation in Guangdong area and its effects on the dosage of warfarin .Methods 150 patients with idiopathic atrial paroxysmal fibrillation from Guangdong area were considered as patient group ,and 120 healthy people from the same area were regarded as control group.The difference of the distribution of CYP2C9-1061A/C gene polymorphism detected by PCR-RFLP between the 2 groups was compared and the difference of dosage of warfarin for the patients with different genotype was analyzed each other .Results The CYP2C9 gene fragment was cut into 134 bp and 18 bp by KpnⅠenzyme after the A base was mutated by C base .There were 105 patients (70.0%) with AA type,40 ones (26.7%) with AC type and 5 ones (3.3%) with CC type.Compared with the normal people,the ratio of AC type in patients with idiopathic paroxysmal atrial fibrillation was higher (χ2 =13.3259,P=0.0003),AA ratio was lower(χ2 =14.5200,P=0.0000),but CC ratio was not different obviously (χ2 =0.2218,P=0.6377).The dosage of warfarin for patients with AC and CC type [(3.62 ±0.58)mg,(3.12 ±0.16)mg] was lower than that with AA type[(4.28 ±0.63)mg](P<0.01),and the dosage of warfarin for patients with CC type was lower than that with AC type (P<0.05).Conclusions There are more CYP2C9-1061A/C gene polymorphism in patients with idiopathic paroxysmal atrial fibrillation in Guangdong area .The mutation of CYP2C9-1061A/C decreases the dosage of warfarin .Therefore, CYP2C9 gene polymorphism can be used as reference to the personalized dosage regimen of warfarin in patients with idiopathic atrial paroxysmal fibrillation .