[1]梁伟峰,汤雯婷,黄耀光.维生素D受体基因TaqI rs731236位点和BsmI rs1544410位点多态性与良性阵发性位置性眩晕的关系研究[J].现代检验医学杂志,2025,40(05):172-177.[doi:10.3969/j.issn.1671-7414.2025.05.033]
　LIANG Weifeng,TANG Wenting,HUANG Yaoguang.Relationship between Polymorphisms of Vitamin D Receptor Gene TaqI rs731236 and BsmI rs1544410 and Benign Paroxysmal Positional Vertigo[J].Journal of Modern Laboratory Medicine,2025,40(05):172-177.[doi:10.3969/j.issn.1671-7414.2025.05.033]
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维生素D受体基因TaqI rs731236位点和BsmI rs1544410位点多态性与良性阵发性位置性眩晕的关系研究()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年05期
页码:
172-177
栏目:
论著
出版日期:
2025-09-15

文章信息/Info

Title:
Relationship between Polymorphisms of Vitamin D Receptor Gene TaqI rs731236 and BsmI rs1544410 and Benign Paroxysmal Positional Vertigo
文章编号:
1671-7414（2025）05-172-06
作者:
梁伟峰a，汤雯婷b，黄耀光a
东莞市人民医院a.耳鼻喉科；b.产科，广东东莞 523109
Author(s):
LIANG Weifenga，TANG Wentingb，HUANG Yaoguanga
a. Department of Otolaryngology；b. Department of Obstetrics, Dongguan People’s Hospital，Guangdong Dongguan 523109，China
关键词:
良性阵发性位置性眩晕; 维生素D受体基因; TaqI; BsmI; 单核苷酸多态性
分类号:
R764.3；Q786
DOI:
10.3969/j.issn.1671-7414.2025.05.033
文献标志码:
A
摘要:
目的研究维生素D受体（VDR）基因TaqIrs731236位点和BsmIrs1544410位点多态性与良性阵发性位置性眩晕（BPPV）的关系及临床意义。方法回顾性选取2021年1月～2023年10月东莞市人民医院收治的确诊BPPV患者263例，另选取同期健康体检者100例作为对照。采用荧光定量PCR检测TaqIrs731236位点和BsmIrs1544410位点的单核苷酸多态性（SNP）。Hardy-Weinberg平衡检验TaqI和BsmI基因遗传平衡状态；对比两组基因型及等位基因分布，分析TaqI，BsmI基因型与BPPV临床特征的关系；Logsitic回归分析影响BPPV发病的危险因素。结果两组临床资料比较，BPPV组糖尿病（22.05%）、高血压（28.90%）及血尿酸（345.38±36.69μmol/L）、胆固醇（4.98±0.68mmol/L）和低密度脂蛋白（3.48±0.67mmol/L）水平明显高于对照组（11.00%，15.00%，328.76±32.24μmol/L，4.36±0.57mmol/L，3.07±0.62mmol/L），血清25-羟维生素D[25(OH)D]水平（62.78±8.69nmol/L）明显低于对照组（97.65±9.54nmol/L），差异具有统计学意义（t/χ2=3.982～33.233，均P<0.05）。Hardy-Weinberg检验两组TaqI，BsmI基因SNP位点基因型分布符合遗传平衡定律，具有群体代表性（χ2=1.406～2.851，均P>0.05）。BPPV组TaqIrs731236位点AG基因型（53.99%）和A等位基因（57.41%）频率明显高于对照组（44.00%，48.00%），而GG基因型（15.59%）频率明显低于对照组（30.00%）；BPPV组BsmIrs1544410位点CC基因型（32.32%）和C等位基因（54.56%）频率明显高于对照组（18.00%，38.00%），而TT基因型（23.19%）和T等位基因（45.44%）频率明显低于对照组（42.00%，62.00%），差异具有统计学意义（χ2=9.589，5.185；14.603，15.900，均P<0.05）。携带rs731236位点AG，AA基因型和rs1544410位点CT，CC基因型的BPPV患者血尿酸、胆固醇水平更高，血清25(OH)D水平更低，差异具有统计学意义（t=4.256～12.742，均P<0.05）。TaqIrs731236位点AG基因型和A等位基因，BsmIrs1544410位点CC基因型和C等位基因是影响BPPV发生的独立危险因素（Waldχ2=8.651，7.269；5.010，6.793，均P<0.05）。结论携带TaqIrs731236位点AG基因型和A等位基因及BsmIrs1544410位点CC基因型和C等位基因与患者血尿酸、胆固醇及血清25(OH)D水平密切相关，且会增加BPPV发病风险，VDR基因多态性改变是BPPV发病的独立危险因素。
Abstract:
Objective To investigate the relationship between vitamin D receptor (VDR) gene TaqI rs731236 and BsmI rs1544410 polymorphisms and benign paroxysmal positional vertigo (BPPV), the relationship and clinical significance of BPPV. Methods A total of 263 patients with confirmed BPPV admitted to Dongguan People’s Hospital from January 2021 to October 2023 were retrospectively selected, and another 100 healthy subjects in the same period were selected as controls. Single nucleotide polymorphisms (SNPs) at the locus of TaqI rs731236 and BsmI rs1544410 gene locus of the were detected by fluorescence quantitative PCR. Single nucleotide polymorphisms (SNP) at TaqI rs731236 and BsmI rs1544410 were detected by fluorescence quantitative PCR. The genetic balance of TaqI and BsmI genes was tested by Hardy-Weinberg balance. Genotype and allele distribution were compared between the two groups. The correlation between TaqI and BsmI genotype and clinical features of BPPV was analyzed. The risk factors of BPPV were analyzed by Logistic regression. Results Compared with the clinical data of the two groups, the levels of diabetes(22.05%), hypertension(28.90%), blood uric acid(345.38±36.69μmol/L), cholesterol(4.98±0.68mmol/L) and low density lipoprotein(3.48±0.67mmol/L) in BPPV group were significantly higher than those in control group（11.00%, 15.00%, 328.76±32.24μmol/L, 4.36±0.57mmol/L, 3.07±0.62mmol/L）, and the serum 25(OH)D level（62.78±8.69nmol/L）was significantly lower than that in control group（97.65±9.54nmol/L），and the differences were statistically significant (t/χ2=3.982~33.233，all P<0.05). Hardy-Weinberg test showed that the genotype distribution of the SNP locus of TaqI and BsmI genes conforms s to the law of genetic equilibrium and is representative of the population (χ2=1.406~2.851，all P>0.05). The frequencies of AG genotype (53.99%) and A allele (57.41%) at TaqI rs731236 in BPPV group were significantly higher than those in control group（44.00%，48.00%）, while the frequencies of GG genotype (15.59%) at TaqI rs731236 in BPPV group were significantly lower than those in control group（30.00%），the frequencies of CC genotype (32.32%) and C allele (54.56%) at BsmI rs1544410 locus in BPPV group were significantly higher than those in control group（18.00%，38.00%）, while the frequencies of TT genotype (23.19%) and T allele (45.44%) at BsmI rs1544410 locus were significantly lower than those in control group（42.00%，62.00%），and the differences were statistically significant（χ2=9.589，5.185；14.603,15.900，all P<0.05）.BPPV patients carrying AG and AA genotypes at TaqI rs731236 and CT and CC genotypes at BsmI rs1544410 had higher blood uric acid and cholesterol levels and lower serum 25(OH)D levels，and the differences were statistically significant (t=4.256~12.742，all P<0.05). The AG genotype and A allele at TaqI rs731236, CC genotype and C allele at BsmI rs1544410 were one of the independent risk factors for BPPV（Wald χ2 =8.651， 7.269；5.010，6.793，all P<0.05）.Conclusion Carrier of AG genotype and A allele at TaqⅠ rs731236 and CC genotype and C allele at BsmI rs1544410 are closely associated with blood uric acid, cholesterol and serum 25(OH)D levels, and insrease the risk of BPPV. The polymorphism of VDR gene is an independent risk factor for BPPV.

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备注/Memo

备注/Memo:
基金项目：东莞市社会发展科技项目( 20211800903732; 20231800940432) 。
作者简介：梁伟峰（1991-），男，硕士研究生，主治医师，研究方向：鼻内镜外科学， E-mail ：JaneEyre2213@163.com。
通讯作者：黄耀光（1988-），男，硕士研究生，主治医师，研究方向：鼻科学、内耳疾病， E-mail ：yghuangyg@126.com。
更新日期/Last Update: 2025-09-15