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UGT1A6、UGT1A9基因多态性对汉族癫痫患者丙戊酸血药浓度的影响
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| 篇名： | UGT1A6、UGT1A9基因多态性对汉族癫痫患者丙戊酸血药浓度的影响 |
| TITLE： | |
| 摘要： | 目的：考察尿苷二磷酸葡萄糖醛酸转移酶（UGT）1A6和1A9基因多态性对汉族癫痫患者丙戊酸血药浓度的影响。方法：选取2014年1月—2015年4月于我院门诊就诊的汉族癫痫患者107例，均使用丙戊酸单药治疗，治疗时间为3个月～6年。采用酶放大免疫法测定患者体内丙戊酸稳态血药浓度，采用基质辅助激光解吸电离飞行时间质谱法检测其UGT1A6（rs2070959、rs6759892）和UGT1A9（rs13418420、rs2741045、rs2741049、rs6731242、rs72551330）基因型，并考察基因多态性与丙戊酸标准化血药浓度（CDR）的相关性。结果：未检出UGT1A9 rs72551330突变型，其余6个位点基因型频率均符合Hardy-Weinberg平衡（P＞0.05）。UGT1A6 rs2070959、rs6759892突变基因携带（AG+GG或TG+GG型）者丙戊酸CDR值显著低于其野生纯合子携带（AA或TT型）者，差异均有统计学意义（P＜0.05）；而携带UGT1A9 rs13418420、rs2741045、rs2741049和rs6731242野生纯合子和突变基因的患者丙戊酸CDR值比较，差异均无统计学意义（P＞0.05）。结论：汉族癫痫患者UGT1A6 rs2070959、rs6759892基因多态性与丙戊酸血药浓度有关，且UGT1A6 rs2070959、rs6759892突变基因携带者可能需要更高的丙戊酸剂量。 |
| ABSTRACT： | OBJECTIVE： To investigate the effects of UGT1A6 and UGT1A9 gene polymorphisms on blood concentration of valproic acid in Han epileptic patients. METHODS： Totally 107 Chinese Han epileptic patients were selected from outpatient department of our hospital during Jan. 2014-Apr. 2015. They were given valproic acid monotherapy treatment for 3 months to 6 years. The steady state concentration of valproic acid was detected by EMIT. UGT1A6 （rs2070959， rs6759892） and UGT1A9 （rs13418420， rs2741045， rs2741049， rs6731242， rs72551330） genotypes were detected by MALDI-TOF-MS. The correlation of gene polymorphism with concentration dose ratios （CDR） of valproic acid was investigated. RESULTS： UGT1A9 rs72551330 mutation had not been detected， and the frequency of genotypes in other 6 sites were all in line with Hardy-Weinberg balance （P＞0.05）. The CDR of valproic acid in patients with UGT1A6 rs2070959， rs6759892 mutation （AG+GG or TG+GG type） were significantly lower than those with wild homozygote （AA or TT type）， with statistical significance （P＜0.05）. There was no statistical significance in CDR of valproic acid among patients with UGT1A9 rs13418420， rs2741045， rs2741049 and rs6731242 wild homozygote and mutation （P＞0.05）. CONCLUSIONS： UGT1A6 rs2070959， rs6759892 gene polymorphisms of Han epileptic patients are associated with blood concentration of valproic acid， and the patients with UGT1A6 rs2070959， rs6759892 mutation need more dose of valproic acid. |
| 期刊： | 2017年第28卷第8期 |
| 作者： | 林雪玉，张燕青，林鹏锋，周凯琴，洪惠，费燕 |
| AUTHORS： | LIN Xueyu，ZHANG Yanqing，LIN Pengfeng，ZHOU Kaiqin，HONG Hui，FEI Yan |
| 关键字： | UGT1A6；UGT1A9；基因多态性；汉族；癫痫患者；丙戊酸；标准化血药浓度 |
| KEYWORDS： | UGT1A6；UGT1A9； Gene polymorphism； Han nationality； Epileptic patients； Valproic acid； Concentration dose ratios |
| 阅读数： | 463 次 |
| 本月下载数： | 6 次 |
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