IL-15Rα及RUNX2基因多态性与内蒙古地区蒙古族后纵韧带骨化的相关性研究

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摘要目的研究内蒙古地区蒙古族人群白细胞介素15受体α亚单位(interleukin-15 receptor α subunits，IL-15Rα)及Runt相关转录因子2(recombinant Runt related transcription factor 2，RUNX2)基因多态性与后纵韧带骨化(ossification of posterior longitudinal ligament，OPLL)的关系。方法采用基因测序法选择2014年1月至2019年12月就诊于我院的蒙古族OPLL患者以及同期健康体检的蒙族人群为研究对象，110例内蒙古地区蒙古族后纵韧带骨化患者和118例健康蒙古族人群进行IL-15Rα基因及RUNX2基因多态性的检测。110例内蒙古地区蒙古族后纵韧带骨化患者，其中男75例，女35例；年龄38~78岁，平均(53.0±12.8)岁。118例健康蒙古族人群，其中男65例，女53例；年龄45~68岁，平均(58.0±11.2)岁。两组IL-15Rα基因及RUNX2基因进行比较，筛选出有意义基因。结果两组采用χ²检验对rs1321075位点基因型、等位基因频率进行比较，AC、CC型差异有统计学意义(P<0.05)，OR值(95%CI)分别为0.584(0.343，0.997)、1.978(1.166，3.353)，等位基因C的OR值(95%CI)为0.588(0.386，0.895)；对rs16873379位点基因型、等位基因频率进行比较，CT、TT型差异有统计学意义(P<0.05)，OR值(95%CI)分别为2.756(1.595，4.760)、0.266(0.153，0.461)，等位基因C的OR值(95%CI)为2.514(1.678，3.768)；对rs2296139位点基因型、等位基因频率进行比较，AA基因型差异有统计学意义(P<0.05)，OR值(95%CI)为0.416(0.218，0.797)；其他位点基因型、等位基因频率进行比较，差异无统计学意义(P＞0.05)。结论 RUNX2基因及IL-15Rα基因中rs1321075位点和rs2296139位点多态性在内蒙古地区蒙古族后纵韧带骨化人群中可能发挥作用。

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	李鹏飞
	朱淑芬 *

关键词 ： IL-15Rα基因, RUNX2基因, 后纵韧带骨化, 基因多态性, 蒙古族

Abstract：Objective To study polymorphic loci in RUNX2 and IL-15Rα and explore the relationtion betweenpolymorphic loci in RUNX2 and IL-15Rα and OPLL of Mongolian in Inner Mongolia.Methods From January 2014 to December 2019，Mongolian OPLL patients and Mongolian people with physical examination in the same period were selected as the research objects.Gene polymorphism of two candidate genes RUNX2 and IL-15Rα were detected by sequencing in 110 OPLL Mongolian patients.There were 75 males and 35 females.The average age was(53.0±12.8)years old.Control group included 118 healthy Mongolian people，including 65 males and 53 females.The average age was(58.0±11.2)years old.The result of sequencing of patients were compared with control subjects to screen loci with significant difference.Results The frequencies of rs1321075 genotype and allele were compared between 118 healthy Mongolian and 110 Mongolian OPLL patients by chi square test.The differences of AC and CC genotype were statistically significant(P< 0.05)，The OR value(95% CI)was 0.584(0.343，0.997)，1.978(1.166，3.353)，the OR value(95% CI)of allele C was 0.588(0.386，0.895)，the difference was statistically significant.Compared with the genotype and allele frequency of rs16873379，the differences of CT and TT were statistically significant(P<0.05)，the OR value(95% CI)was 2.756(1.595，4.760)，0.266(0.153，0.461)，respectively.The OR value of allele C(95% CI)was 2.514(1.678，3.768)；the difference of genotype and allele frequency of rs2296139 was statistically significant(P<0.05)，OR value(95% CI)was 0.416(0.218，0.797)，and the difference of genotype and allele frequency of other loci was not statistically significant(P＞0.05).Conclusion Polymorphism of rs1321075 and rs2296139 in RUNX2 and IL-15Rα may be responsible for OPLL in Mongolian population patients in Inner Mongolia.

Key words： interleukin-15 receptor alpha recombinant Runt related transcription factor 2 ossification of posterior longitudinal ligament gene polymorphism mongolian group

基金资助:内蒙古自治区人民医院博士科研启动基金(BS201803)

通讯作者: 朱淑芬

作者简介: 李鹏飞(1979— )，男，主任医师，内蒙古自治区人民医院脊柱外科，010017。

引用本文:

李鹏飞，朱淑芬 *. IL-15Rα及RUNX2基因多态性与内蒙古地区蒙古族后纵韧带骨化的相关性研究[J]. 实用骨科杂志, 2021, 27(6): 517-533.
Li Pengfei，Zhu Shufen *. IL-15Rα and RUNX2 Polymorphisms Associated with OPLL in the Mongolian Population. sygkzz, 2021, 27(6): 517-533.

链接本文:

http://www.sygkzz.com/CN/ 或 http://www.sygkzz.com/CN/Y2021/V27/I6/517

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