【摘要】 目的检测TNF超家族成员15(TNFSF15)基因多态性与浙江地区汉族人克罗恩病患者遗传易感性的相关性。方法抽取42例克罗恩病患者(克罗恩病组)、49名健康者(对照组)外周静脉血并提取DNA,设计TNFSF15三个单核苷酸多态性(SNP)(rs3810936,rs6478109,rs7848647)目的基因特异性引物,扩增样本中的目的基因进行测序,分析等位基因的多态性与遗传易感性及与临床亚型的关系。结果两组rs3810936,rs6478109,rs7848647三个位点的等位基因携带频率及基因型频率比较差异无统计学意义。三个基因多态性位点组成的亚型B1(cc-gg-cc)即包含三个危险等位基因的亚型,与对照组相比,其亚型频率分别为38%和26%(χ2=1.393,P=0.238),而亚型A1(tt-aa-tt)即包含三个保护等位基因的亚型,与对照组相比,其亚型频率分别为14%和12%(χ2=0.082,P=0.774),无明显保护作用。多因素Logistic回归分析显示TNFSF15的SNP可能与克罗恩病的临床亚型无显著相关性,但rs3810936与rs6478109有相关性(r=0.802,P<0.01),rs3810936与rs7848647有相关性(r=0.793,P<0.01),rs6478109与rs7848647有相关性(r=0.948,P<0.01)。结论 TNFSF15的三个SNP(rs3810936,rs6478109,rs7848647)与浙江地区汉族人克罗恩病遗传易感性、临床亚型无显著相关性。TNFSF15基因rs3810936,rs6478109,rs7848647的SNP可能存在种族及地域差异。更多还原

【Abstract】 Objective To investigate the association between the single nucleotide polymorphism( SNP) of Tumor necrosis factor superfamily member 15( TNFSF15) and Crohn’s disease( CD) of han nationality in the place of Zhejiang. Methods Extract the peripheral venous blood of 42 CD patients and 49healthy persons followed by extracting DNA. Design specific primers of target gene segments of the three polymorphism sites rs3810936,rs6478109,rs7848647,which are located in TNFSF15. Amplify target gene segments of DNA specimens using PCR followed by sequencing them. At last,analyze the relationship among allele polymorphism and susceptibility and subtype of disease. Results The TNFSF15 SNP( rs3810936,rs6478109,rs7848647) showed no significant in allele frequency between the control and CD groups. In CD group and control group, both haplotype B1( cc-gg-cc) carring the three risk alleles of rs3810936,rs6478109,rs7848647( 38. 1% and 26. 5%,χ2= 1. 393,P = 0. 238) and haplotype A1( tt-aa-tt) carring the opposite alleles of three SNPs( 14. 3% and 12. 2%,χ2= 0. 082,P = 0. 774) showed no significant association with CD. According to multiple regression analysis,these three polymorphisms of TNFSF15 have no significant association with clinical subtypes involved of CD in China,but there is relationship between rs3810936and rs6478109( r = 0. 802,P < 0. 01),rs3810936 and rs7848647( r = 0. 793,P < 0. 01),rs6478109 and rs7848647( r = 0. 948,P < 0. 01). Conclusions SNP( rs3810936,rs6478109,rs7848647) of TNFSF 15showed no significant association with CD in Chinese Han population,and have no significant association with clinical subtypes,it may have racial and regional difference.更多还原