腫瘤壞死因子超家族成員15與潰瘍性結(jié)腸炎相關(guān)性的研究

[摘要] 目的 研究腫瘤壞死因子超家族成員15與潰瘍性結(jié)腸炎相關(guān)性。方法 方便選取2013年1月—2015年12月福建醫(yī)科大學(xué)附屬泉州市第一醫(yī)院收治的103例UC患者作為病例組，抽取同期103名健康體檢者做為對(duì)照組。應(yīng)用χ2檢驗(yàn)或Fisher確切概率法檢驗(yàn)兩組基因型頻率是否符合Hardy-Weinberg遺傳平衡定律，分析兩組間SNPs基因型頻率與等位基因頻率的差異，并檢驗(yàn)?zāi)[瘤壞死因子超家族成員15（TNFSF15）基因單核苷酸多態(tài)性與UC臨床特征的相關(guān)性。 結(jié)果 TNFSF15基因中rs3810936、rs6478108、rs6478109、rs7848647和rs7869487等5個(gè)SNPs基因型頻率分布符合Hardy-Weinberg遺傳平衡定律（P>0.05）；兩組5個(gè)SNPs位點(diǎn)基因型頻率和等位基因頻率差異無(wú)統(tǒng)計(jì)學(xué)意義（P>0.05）（基因型頻率比較，P=0.685，0.903，0.750，0.808，0.988；等位基因頻率比較，P=0.612，0.764，0.620，0.622， 1.000）。結(jié)論 TNFSF15基因與中國(guó)漢族人群UC的遺傳易感性無(wú)明顯相關(guān)性。

[關(guān)鍵詞] 潰瘍性結(jié)腸炎（UC）；遺傳易感性；TNFSF15基因；單核苷酸多態(tài)性

[中圖分類(lèi)號(hào)] R4 [文獻(xiàn)標(biāo)識(shí)碼] A [文章編號(hào)] 1674-0742（2016）11（c）-0021-04

[Abstract] Objective To investigate the relationship between the Tumor necrosis factor superfamily member 15 and UC.Methods Convenient selection 103 cases of Han Chinese patients with UC in the One Hospital of Qian Zhou of FuJian Medical University from January 2013 to December 2015 were selected as the case group，during the same time 103 case of healthy check-ups were selected as the control group. χ2 tests or Fisher’ exact test were used to test whether the genotype frequencies of the two groups conform the in Hardy-Weinberg law of genetic equilibrium. the difference of SNPs genotypes and allele frequencies in two groups were analyzed ，the relevance of Tumor necrosis factor superfamily member 15 （TNFSF15） gene single nucleotide polymorphism and clinical features of UC were test. Results In TNFSF15，rs3810936、rs6478108、rs6478109、rs7848647 and rs7869487 SNPs genotype frequencies conform Hardy-Weinberg equilibrium（P>0.05）.5 SNPs genotypes and allele frequencies in two groups has no significant difference the difference.（P>0.05）（P=0.685， 0.903，0.750，0.808，0.988 in genotype frequencies；P=0.612，0.764，0.620，0.622，1.000 in allele frequencies）. Conclusion The SNPs of TNFSF15 about Chinese Han people has no significant relations to UC genetic susceptibility.

[Key words] Ulcerative colitis； Predisposition ；TNFSF15；Single nucleotide polymorphisms；Genetic

潰瘍性結(jié)腸炎（Ulcerative colitis UC）是一種慢性非特異性炎癥性疾病，主要累及直腸和結(jié)腸，其與克羅恩（CD）統(tǒng)稱(chēng)為炎癥性腸病（IBD）。至今為止，關(guān)于潰瘍性結(jié)腸炎的病因尚無(wú)明確結(jié)論，研究認(rèn)為，UC是遺傳、感染、環(huán)境和免疫等多因素共同作用的結(jié)果，其發(fā)病機(jī)制可以概括為：遺傳易感者在環(huán)境因素的作用下及腸道茵群的參與下，啟動(dòng)了腸道免疫機(jī)制及非免疫機(jī)制，從而導(dǎo)致腸道發(fā)生反應(yīng)。近年來(lái)，關(guān)于UC的發(fā)病與遺傳因素的相關(guān)性的研究成為臨床熱點(diǎn)。多項(xiàng)研究提出，UC的發(fā)病與ICAM-1、HLA [1]及TNFSF15等多個(gè)基因密切相關(guān)，已有研究表明，TNFSF15基因是CD的易感基因之一[2-3]，但鮮有TNFSF15基因與UC相關(guān)性的研究。……