维生素D受体基因单核苷酸多态性与海南地区汉族慢性鼻窦炎的关联性分析

The correlation of single nucleotide polymorphism of vitamin D receptor gene with chronic sinusitis of Han nationality in Hainan area

目的:探究维生素D受体(Vitamin D Rceptor,VDR)基因单核苷酸多态性(Single Nucleotide Polymorphism,SNP)位点rs731236(TaqI)、rs1544410(BsmI)、rs7975232(ApaI)及CdxⅡ与海南慢性鼻窦炎(Chronic Sinusitis,CRS)的关联性。方法:选择2017年3-12月就诊的汉族CRS患者111例作为病例组(CRS组),同期在海南医学院第一附属医院体检的113例汉族健康人群作为对照组(HC组),利用Snapshot技术对上述样本VDR基因4个SNP位点TaqI、BsmI、ApaI、CdxⅡ进行基因分型。通过Snpstats云分析平台、SPSS 25.0软件对基因型、等位基因、单倍型等进行统计学分析。结果:TaqI在海南人群中可检测到TC、TT两种基因型,在CRS组中分别为15例(13.51%)、96例(86.49%),HC组分别为11例(9.73%)、102例(90.27%);等位基因T、C在CRS组中分别为207例(93.24%)、15例(6.76%),在HC组中分别为215例(95.13%)、11例(4.87%)。BsmI有AG、GG两种基因型,在CRS组中分别为9例(8.10%)、102例(91.90%),在HC组中分别为11例(9.73%)、102例(90.27%),等位基因A、G在CRS组中为9例(4.05%)、213例(95.95%),在HC组中分别为11例(5.09%)、215例(94.91%)。ApaI有AA、AC、CC三种基因型,在CRS组中分别为6例(5.41%)、48例(43.24%)、57例(51.35%),在HC组中分别为15例(13.27%)、44例(38.94%)、54例(47.79%),等位基因A、C在CRS组中分别为50例(27.02%)、162例(72.97%);在HC组分别为74例(32.74%)、152例(67.26%)。CdxⅡ的三种基因型AA、AG、GG在CRS组中为36例(32.43%)、54例(48.65%)、21例(18.92%),在HC组中为39例(34.51%)、58例(51.33%)、16例(14.16%),等位基因A、G在CRS组中为126例(56.76%)、96例(43.24%),在HC组中分别为136例(60.18%)、90例(39.82%),TaqI、BsmI、ApaI、CdxⅡ四个多态性位点基因型和等位基因的组间差异无统计学意义(P> 0.05)。单倍型TaqI-BsmI-ApaI-CdxⅡ-T-G-C-A在CRS组和HC组中的分布频率差异具有统计学意义(P=0.036)。结论:VDR基因的四个多态性位点(TaqI、BsmI、ApaI、CdxⅡ)单个SNP位点与海南CRS关联性不显著,四个多态性位点组成的单倍型TaqI-BsmI-ApaI-CdxⅡ-T-G-C-A可能与海南汉族CRS的发生发展存在关联性。

Objective: To investigate the correlation of TaqI, BsmI, ApaI and Cdx Ⅱ of SNP of VDR gene with CRS in Hainan area. Methods: 111 cases from March to December 2017 were selected as case group(the CRS group), and 113 healthy people who were examined in the hospital during the same period as control group(the HC group). The Snapshot technique was used to genotype the four SNP sites of the VDR gene in the above samples, namely TaqI, BsmI, ApaI, and Cdx Ⅱ. Through Snpstats cloud analysis platform and SPSS 25.0 software, statistical analysis of genotype, allele, haplotype, and so on were executed. Results: 2 genotypes of TaqI in Hainan population were detected, namely TC and TT, with 15(13.51%), 96(86.49%) in the CRS group, and 11(9.73%), 102(90.27%) in the HC group, respectively. The incidence of allele T and allele C was 207(93.24%), 15(6.76%) in the CRS group, and 215(95.13%),11(4.87%) in the HC group, respectively. 2 genotypes of BsmI in Hainan population, namely AG and GG, with 9(8.10%), 102(91.90%) in the CRS group, and 11(9.73%), 102(90.27%) in the HC group, respectively. The incidence of allele A and allele G in the CRS group was 9(4.05%), 213(95.95%), and in the HC group was 11(5.09%), 215(94.91%), respectively. 3 genotypes of ApaI in Hainan population were detected, namely AA, AC and CC, with 6(5.41%), 48(43.24%), and 57(51.35%) in the CRS group, and 15(13.27%), 44(38.94%), and 54(47.79%) in the HC group, respectively. The incidence of allele A and allele C in the CRS group was 50(27.02%), 162(72.97%), and in the HC group was 74(32.74%), 152(67.26%), respectively. The incidence of AA, AG, and GG three genotypes of Cds Ⅱ in the CRS group was 36(32.43%), 54(48.65%), and 21(18.92%), and in the HC group was 39(34.51%), 58(51.33%), and 16(14.16%), respectively. The occurrence of allele A and allele G in the CRS group was 126(56.76%), 96(43.24%), and in the HC group was 136(60.18%), 90(39.82%),respectively. There was no significant difference in genotype and allele of TaqI, BsmI, ApaI and Cdx Ⅱ in the two groups(P>0.05). The distribution frequency of haplotype TaqI-BsmI-ApaI-Cdx Ⅱ-T-G-C-A in the two groups showed a statistically significant difference(P=0.036). Conclusion: The single SNP locus of TaqI, BsmI, ApaI and Cdx Ⅱ of the DVR gene is not significantly associated with CRS in Hainan area. Haploid TaqI-BsmI-ApaI-Cdx Ⅱ-T-G-C-A consisted of 4 polymorphic loci may be associated with the occurrence and development of CRS in Han group populartion in Hainan area.