Title白细胞介素4受体α亚单位基因多态性与重症肌无力的相关性
Other TitlesAssociation of IL-4Rα Polymorphism with Myasthenia Gravis
Authors姜平
岳耀先
谢琰臣
高翔
谷传凯
郝洪军
秦月
丁晓君
宋敏
张栩
李海峰
Affiliation青岛大学附属医院神经内科,山东 青岛,266000
山东大学齐鲁医院神经内科,山东 青岛,266000
首都医科大学北京友谊医院神经内科,北京,100050
青岛大学附属医院重症医学科,山东 青岛,266000
北京大学第一医院神经免疫室,北京,100034
Keywords重症肌无力
白介素-4受体
基因多态性
胸腺瘤
Myasthenia gravis
IL-4R
Gene polymorphism
Thymoma
Issue Date2018
Publisher中风与神经疾病杂志
Citation中风与神经疾病杂志. 2018, 35(5), 399-403.
Abstract目的 探索IL-4R基因多态性与汉族人MG易感性和严重程度的相关性.方法 采用SNPscanTM技术对480例MG患者和487例健康对照的6个SNP(rs2107356、rs1805010、rs1805011、rs1805015、rs1801275和rs8832)进行分型,比较MG与对照组、MG亚组与对照组及亚组间等位基因和基因型的频率.结果 rs2107356和rs1805010的等位基因和基因型频率在伴胸腺瘤的成人亚组高于对照组和不伴胸腺瘤的成人亚组,但不伴胸腺瘤的成人亚组和对照组之间无差异.MG患者rs1801275 G等位基因的频率高于对照组,尤其是在AChR抗体阳性不伴胸腺瘤的成人亚组.rs1801275的基因型是MG患者AChR抗体阳性的独立相关因素.结论 在中国汉族人群,rs2107356、rs1805010和rs1801275与MG的易感性相关.
Objective To explore the association between IL-4R gene polymorphism and the susceptibility and se-verity of myasthenia gravis ( MG ) .Methods We genotyped six SNPs ( rs2107356 , rs1805010 , rs1805011 , rs1805015 , rs1801275 and rs8832) in IL-4R gene with SNPscan TM technique.The allele and genotype frequencies were compared be-tween 480 MG patients and 487 healthy controls ,between each MG subgroup and the control group and between each pairs of MG subgroups.Results There are significant differences in allele and genotype frequencies of rs 2107356 and rs1805010 between adult thymoma MG subgroup and the control group ,and between adult thymoma MG subgroup and adult non-thymoma MG subgroup .No difference were found in allele frequencies of these two SNPs between adult non -thymoma MG subgroup and the control group .There is significant difference in frequency of rs 1801275 G allele between MG patients and healthy controls,especially AChR antibody positive non-thymoma adult MG subgroup.The genotype of rs1801275 was found to be independent factor associated with AChR antibody positivity in MG .Conclusion In Chinese Han population , rs2107356 and rs1805010 and rs1801275 was found to be associated with the susceptibility of MG .
URIhttp://hdl.handle.net/20.500.11897/519371
ISSN1003-2754
Appears in Collections:第一医院

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