| 新疆癫痫患儿HLA-B基因多态性与奥卡西平所致斑丘疹的相关性研究 |
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| 引用本文： | 于鲁海,李红健,赵婷,王婷婷,贾莉,玛尔江·巴合提别克,刘文丽,孙岩,孙力,于爱平.新疆癫痫患儿HLA-B基因多态性与奥卡西平所致斑丘疹的相关性研究[J].中国医院药学杂志,2021,41(1):13-16,41. |
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| 作者姓名： | 于鲁海 李红健 赵婷 王婷婷 贾莉 玛尔江·巴合提别克 刘文丽 孙岩 孙力 于爱平 |
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| 作者单位： | 1. 新疆维吾尔自治区人民医院药学部, 新疆 乌鲁木齐 830001;2. 新疆维吾尔自治区人民医院儿科, 新疆 乌鲁木齐 830001;3. 新疆维吾尔自治区人民医院医院办公室, 新疆 乌鲁木齐 830001 |
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| 基金项目： | 国家自然科学基金资助项目(编号:81460571)。 |
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| 摘 要： | 目的： 探讨我国新疆癫痫患儿HLA-B基因多态性与奥卡西平（oxcarbazepine，OXC）引起斑丘疹的相关性。方法： 收集服用OXC后引起斑丘疹16例和未发生斑丘疹的135例癫痫患儿，采用第二代测序技术对151例癫痫患儿的HLA-B等位基因进行全基因组测序，分析OXC引起的斑丘疹与HLA-B基因多态性的相关性。结果： OXC-MPE组、OXC-耐受组和一般人群的HLA-B*0702基因型频率分别为：28.13%（9/32），2.43%（9/370）和2.14%（103/4 816）。HLA-B*0702的等位基因阳性率在OXC-MPE组、OXC-耐受组和一般人群之间的差异均具有统计学意义（P<0.01，OR=26.51，95% CI：4.40~82.58；P<0.01，OR=27.45，95% CI：13.08~57.65）。HLA-B*4032的等位基因阳性率在OXC-MPE组、OXC-耐受组和一般人群之间的差异均具有统计学意义（P<0.05，OR=6.19，95% CI：0.90~0.99）。此外，OXC-MPE组，OXC-耐受组和一般人群的HLA-B*4001基因型频率分别为：0%（0/32），3.78%（14/370）和0.53%（27/5 117）。HLA-B*4001的等位基因阳性率在OXC-MPE组和OXC-耐受组之间的差异有统计学意义（P<0.05，OR=4.08，95% CI：1.00~9.08）。结论： 我国新疆癫痫患儿中HLA-B*0702和HLA-B*4032等位基因可能是OXC诱发斑丘疹的风险等位基因，其中HLA-B*0702等位基因的风险度较大。
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| 关 键 词： | 奥卡西平 斑丘疹 HLA-B 癫痫患儿 |
| 收稿时间： | 2020-09-05 |
Relationship between HLA-B gene polymorphism and macular papule caused by oxcarbazepine in epileptic children in Xinjiang |
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| YU Lu-hai,LI Hong-jian,ZHAO Ting,WANG Ting-ting,JIA Li,BAHATIBIEKE Ma-er-jiang,LIU Wen-li,SUN Yan,SUN Li,YU Ai-ping.Relationship between HLA-B gene polymorphism and macular papule caused by oxcarbazepine in epileptic children in Xinjiang[J].Chinese Journal of Hospital Pharmacy,2021,41(1):13-16,41. |
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| Authors: | YU Lu-hai LI Hong-jian ZHAO Ting WANG Ting-ting JIA Li BAHATIBIEKE Ma-er-jiang LIU Wen-li SUN Yan SUN Li YU Ai-ping |
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| Institution: | 1. Department of Pharmacy, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Urumqi 830001, China;2. Department of Pediatrics, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Urumqi 830001, China;3. Administrative Office, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Urumqi 830001, China |
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| Abstract: | OBJECTIVE To explore the relationship between HLA-B gene polymorphism and macular papule caused by oxcarbazepine in Han epileptic children in Xinjiang.METHODS Sixteen cases of maculopapular eruption(MPE)caused by oxcarbazepine(OXC)and 135 Han epileptic children without MPE were recruited.Next-generation sequencing was employed for sequencing whole genome of HLA-B alleles in 151 epileptic children and correlation between macular papule caused by oxcarbazepine and HLA-B gene polymorphism was analyzed.RESULTS The frequencies of HLA-B*0702 genotypes in OXC-MPE group,OXC-/tolerance group and general population were 28.13%(9/32),2.43%(9/370)and 2.14%(103/4816)respectively.Significant differences existed in positive rate of HLA-B*0702 allele between OXC-MPE group,OXC-tolerance group and general population(P<0.01,OR=26.51,95%CI:4.40-82.58,P<0.01,OR=27.45,95%CI:13.08-57.65).Significant differences existed in positive rate of HLA-B*4032 allele among OXC-MPE group,OXC-tolerance group and general population(P<0.05,OR=6.19,95%CI:0.90-0.99).In addition,the frequencies of HLA-B*4001 genotypes in OXC-MPE group,OXC-tolerance group and general population were 0%(0/32),3.78%(14/370)and 0.53%(27/5117)respectively.Significant difference existed in positive rate of HLA-B*4001 allele between OXC-MPE and OXC-tolerance group(P<0.05,OR=4.08,95%CI:1.00-9.08).CONCLUSION HLA-B*0702 and HLA-B*4032 alleles may be the risk genes of macular papule induced by OXC in epileptic children in Xinjiang and the risk of HLA-B*0702 allele is higher. |
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| Keywords: | oxcarbazepine maculopapular eruption HLA-B epileptic children |
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