维生素D受体基因遗传变异对慢性变应性鼻炎的预警作用
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摘要
目的探讨变应性鼻炎(AR)患者中维生素D受体(VDR)基因rs731236、rs1544410、rs11568820等3个单核苷酸多态性位点(SNP)的遗传变异情况并分析其对AR的诊断及预警作用。方法选择2017年3—12月在海南医学院第一附属医院就诊的AR患者94例(AR组)及同期在该院体检的健康人群113例(HC组),所有患者提取基因组DNA,利用质谱分型技术对rs731236、rs1544410、rs11568820 3个SNP位点进行基因分型。利用SNPstats在线软件、SPSS 25.0软件等对基因型及等位基因分布频率进行统计学分析。结果 rs11568820可检测到GG、AG、AA 3种基因型,3种基因型在AR组和HC组中的分布频数为29. 8%/34. 5%,51.1%/51. 3%, 19. 1%/14. 2%,共显性模型、显性模型、隐性模型的验证结果组间比较差异均无统计学意义(P> 0. 05)。rs731236仅检测出野生型纯合子TT及杂合子TC,2种基因型在AR组和HC组中的分布频率为87. 2%/90. 3%、12. 8%/9.7%,组间比较差异无统计学意义(P>0.05)。rs1544410亦检测出野生型纯合子GG及杂合子GA,2种基因型在AR组和HC组中的分布频率为90.4%/90. 3%,9.6%/9. 7%,组间比较差异无统计学意义(P> 0. 05)。SPSS 25. 0统计软件分析上述SNP位点等位基因的组间分布,差异均无统计学意义(P>0.05)。结论 VDR基因SNP位点rs731236、rs1544410、rs11568820与慢性变应性鼻炎不存在相关性,不能作为AR的预警指标。
Objective To investigate the genetic variation of three single nucleotide polymorphism loci(SNP) of vitaminD receptor(VDR) genes rs731236, rs1544410 and rs11568820 in patients with allergic rhinitis(AR), and to analyze their diagnostic and early warning effects on AR. Methods Ninety-four AR patients(AR group) and 113 healthy people(HC group) were selected from the First Affiliated Hospital of Hainan Medical College from March to December 2017. Genomic DNA was extracted from all patients and genotyping of rs731236, rs1544410 and rs11568820 SNP loci was performed by mass spectrometry. Genotypes and allele frequencies were analyzed by SNPstats online software and SPSS 25.0 software. Results rs11568820 can detect three genotypes of GG, AG and AA. The frequency of distribution of three genotypes in AR group and HC group is 29. 8%/34. 5%, 51. 1%/51.3%, 19.1%/14. 2%, codominance There were no significant differences in the comparison between the validation results of the model, the dominant model and the recessive model(P >0.05).Only wild type homozygous TT and heterozygous TC were detected in rs731236. The frequency of distribution of the two genotypes in AR group and HC group was 87.2%/90. 3% and 12. 8%/9.7%. There was no significant difference between the two groups(P >0.05). Wild type homozygous GG and heterozygous GA were also detected in rs1544410. The frequency of distribution of the two genotypes in AR and HC groups was 90.4%/90. 3%,9.6%/9.7%. There was no significant difference between the two groups( P >0.05). The SPSS 25.0 statistical software analyzed the distribution of alleles of the above SNP loci, and the difference was not statistically significant(P>0.05). Conclusion The SNP loci rs731236,rs1544410 and rs11568820 of VDR gene are not correlated with chronic AR and can not be used as early warning indicators of AR.
Objective To investigate the genetic variation of three single nucleotide polymorphism loci(SNP) of vitaminD receptor(VDR) genes rs731236, rs1544410 and rs11568820 in patients with allergic rhinitis(AR), and to analyze their diagnostic and early warning effects on AR. Methods Ninety-four AR patients(AR group) and 113 healthy people(HC group) were selected from the First Affiliated Hospital of Hainan Medical College from March to December 2017. Genomic DNA was extracted from all patients and genotyping of rs731236, rs1544410 and rs11568820 SNP loci was performed by mass spectrometry. Genotypes and allele frequencies were analyzed by SNPstats online software and SPSS 25.0 software. Results rs11568820 can detect three genotypes of GG, AG and AA. The frequency of distribution of three genotypes in AR group and HC group is 29. 8%/34. 5%, 51. 1%/51.3%, 19.1%/14. 2%, codominance There were no significant differences in the comparison between the validation results of the model, the dominant model and the recessive model(P >0.05).Only wild type homozygous TT and heterozygous TC were detected in rs731236. The frequency of distribution of the two genotypes in AR group and HC group was 87.2%/90. 3% and 12. 8%/9.7%. There was no significant difference between the two groups(P >0.05). Wild type homozygous GG and heterozygous GA were also detected in rs1544410. The frequency of distribution of the two genotypes in AR and HC groups was 90.4%/90. 3%,9.6%/9.7%. There was no significant difference between the two groups( P >0.05). The SPSS 25.0 statistical software analyzed the distribution of alleles of the above SNP loci, and the difference was not statistically significant(P>0.05). Conclusion The SNP loci rs731236,rs1544410 and rs11568820 of VDR gene are not correlated with chronic AR and can not be used as early warning indicators of AR.
引文
[1]谢忠建,程群,丁悦.维生素D代谢和作用[J].中华骨质疏松和骨矿盐疾病杂志,2018, 11(1):26-33.DOI:10. 3969/j. issn.1674-2591.2018.01.003.
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[8]黄启钊,戚华兵,杜晓兰,等.维生素D信号通路在骨骼稳态维持中的作用[J].中华骨质疏松和骨矿盐疾病杂志,2015,8(2):156-163. DOI:10. 3969/j. issn. 1674-2591.2015.02.011.
[9]乔俊英,宋丽,张艳丽,等.哮喘小鼠HMGB1/TLR4/NF-κB信号通路及维生素D的作用[J].中国当代儿科杂志,2017,19(1):95-103. DOI:10.7499/j. issn. 1008-8830. 2017.01.016.
[10]桂明才,李兵,戚思国,等.1,25-二羟维生素D3通过PI3K/AKT/Bcl-2信号通路诱导喉癌细胞Hep-2细胞凋亡[J].重庆医科大学学报,2017,42(11):1422-1425. DOI:10. 13406/j. cnki. cyxb.001071.
[11]夏征,胡亚卓,韩志涛,等.维生素D受体基因多态性与北京地区老年男性原发性高血压的相关性[J].中华老年心脑血管病杂志,2019,21(1):12-17.DOI:10.3969/j.issn.1009-0126.2019.01.004.
[12]陈咏,于月新,芦冬梅,等.维生素D受体基因多态性与多囊卵巢综合征Meta分析[J].中国实用妇科与产科杂志,2018, 34(1):94-99. DOI:10.19538/j.fk201801012.
[13]王丽,陈星,程泽星,等.维生素D受体及其基因多态性与鼻咽癌的关联[J].临床耳鼻咽喉头颈外科杂志,2017, 31(23):1803-1806. DOI:10.13201/j.issn. 1001-1781.2017.23.006.
[14] Yin J, Pan H, Long T, et al. Polymorphisms of VDR gene and risk of gastric cardiac adenocarcinoma in Chinese population[J]. Oncotarget,2017, 8(28):45531-45543. D01:10. 18632/oncotarget.17270.
[15] Yang J, Wang H, Ji A, et al. Vitamin D Signaling Pathways Confer the Susceptibility of Esophageal Squamous Cell Carcinoma in a Northern Chinese Population[J]. Nutrition and Cancer, 2017, 69(4):593-600. DOI:10. 1080/01635581.2017. 1299873.
[16] Tian HQ,Chen XY,Lu Y, et al. Association of VDR and CYP2R1Polymorphisms with Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population[J]. PLoS One, 2015, 10(7):e0133162. DOI:10.1371/journal. pone. 0133162.
[2]耿珊珊,任秀敏.徐鸥,等.变应性鼻炎患者血清维生素D与Treg/Th17细胞的相关性研究[J].中国耳鼻咽喉头颈外科,2018, 25(4):177-181. DOI:10.16066/j. 1672-7002.2018.04.002.
[3] Huang CH, Hu TH, Lu SN, et al. Association of vitamin D receptor gene polymorphisms with response to peginterferon plus ribavirin in Asian patients with chronic hepatitis C[J]. J Formos Med Assoc,2016, 115(4):278-283. DOI:10.1016/j. jfma.2015.11.008.
[4]陈赛明,周小柳,李智群,等.CYP2R1基因遗传变异对海南变应性鼻炎的影响[J].海南医学院学报,2018, 24(21):1871-1873.DOI:10.13210/j.cnki.jhmu. 20181116.002.
[5]中华医学会耳鼻咽喉头颈外科学分会鼻科学组.变应性鼻炎诊断和治疗指南(2015年,天津)[J].中华耳鼻咽喉头颈外科杂志,2016, 51(1):6-24. DOI:10. 3760/cma. j. issn. 1673-0860.2016.01.004.
[6]章如新.变应性鼻炎的研究进展[J].山东大学耳鼻喉眼学报,2016, 30(4):3-6. DOI:10.6040/j. issn. 1673-3770.0.2016.241.
[7]焦沃尔,陈始明.Notch信号在变应性鼻炎发病中的作用及机制研究进展[J].疑难病杂志,2018,17(8):860-864.DOI:10.3969/j. issn. 1671-6450.2018.08.026.
[8]黄启钊,戚华兵,杜晓兰,等.维生素D信号通路在骨骼稳态维持中的作用[J].中华骨质疏松和骨矿盐疾病杂志,2015,8(2):156-163. DOI:10. 3969/j. issn. 1674-2591.2015.02.011.
[9]乔俊英,宋丽,张艳丽,等.哮喘小鼠HMGB1/TLR4/NF-κB信号通路及维生素D的作用[J].中国当代儿科杂志,2017,19(1):95-103. DOI:10.7499/j. issn. 1008-8830. 2017.01.016.
[10]桂明才,李兵,戚思国,等.1,25-二羟维生素D3通过PI3K/AKT/Bcl-2信号通路诱导喉癌细胞Hep-2细胞凋亡[J].重庆医科大学学报,2017,42(11):1422-1425. DOI:10. 13406/j. cnki. cyxb.001071.
[11]夏征,胡亚卓,韩志涛,等.维生素D受体基因多态性与北京地区老年男性原发性高血压的相关性[J].中华老年心脑血管病杂志,2019,21(1):12-17.DOI:10.3969/j.issn.1009-0126.2019.01.004.
[12]陈咏,于月新,芦冬梅,等.维生素D受体基因多态性与多囊卵巢综合征Meta分析[J].中国实用妇科与产科杂志,2018, 34(1):94-99. DOI:10.19538/j.fk201801012.
[13]王丽,陈星,程泽星,等.维生素D受体及其基因多态性与鼻咽癌的关联[J].临床耳鼻咽喉头颈外科杂志,2017, 31(23):1803-1806. DOI:10.13201/j.issn. 1001-1781.2017.23.006.
[14] Yin J, Pan H, Long T, et al. Polymorphisms of VDR gene and risk of gastric cardiac adenocarcinoma in Chinese population[J]. Oncotarget,2017, 8(28):45531-45543. D01:10. 18632/oncotarget.17270.
[15] Yang J, Wang H, Ji A, et al. Vitamin D Signaling Pathways Confer the Susceptibility of Esophageal Squamous Cell Carcinoma in a Northern Chinese Population[J]. Nutrition and Cancer, 2017, 69(4):593-600. DOI:10. 1080/01635581.2017. 1299873.
[16] Tian HQ,Chen XY,Lu Y, et al. Association of VDR and CYP2R1Polymorphisms with Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population[J]. PLoS One, 2015, 10(7):e0133162. DOI:10.1371/journal. pone. 0133162.
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