中华内科杂志
中華內科雜誌
중화내과잡지
CHINESE JOURNAL OF INTERNAL MEDICINE
2014年
7期
521-526
,共6页
郑香云%蒋平%吴昊%邵晓晓%胡定元%姜立佳%林秀清%李士林%蒋益
鄭香雲%蔣平%吳昊%邵曉曉%鬍定元%薑立佳%林秀清%李士林%蔣益
정향운%장평%오호%소효효%호정원%강립가%림수청%리사림%장익
结肠炎,溃疡性%TNF相关凋亡诱导配体%基因多态性%诱骗受体%护骨素
結腸炎,潰瘍性%TNF相關凋亡誘導配體%基因多態性%誘騙受體%護骨素
결장염,궤양성%TNF상관조망유도배체%기인다태성%유편수체%호골소
Colitis,ulcerative%TNF-related apoptosis-inducing ligand%Genetic polymorphism%Decoy receptor%Osteoprotegerin
目的 探讨诱骗受体(DcR)1、DcR2及护骨素(OPG)基因的多态性与溃疡性结肠炎(UC)易感性的关系.方法 收集352例UC患者和463例性别、年龄相匹配的健康对照者,采用微测序技术检测DcR1(rs12549481位点)、DcR2(rs1133782位点)及OPG(rs3102735位点)的基因型频率.结果 在显性模型中,UC组DcR2(rs1133782位点)的突变等位基因(A)和基因型(GA+ AA)频率均低于对照组[6.25％ (44/704)比8.96％(83/926),P=0.043;11.36％ (40/352)比17.28％(80/463),P=0.018];而在隐性模型中,UC组OPG(rs3102735位点)的突变等位基因(T)和纯合子突变基因型(TT)的频率均高于对照组[86.36％(608/704)比81.53％(755/926),P=0.009;75.28％(265/352)比66.95％ (310/463),P=0.010].采用非条件Logistic回归分析发现,重度UC患者中OPG(rs3102735位点)的突变等位基因(T)的频率明显低于轻-中度患者[76.67％(69/90)比87.79％(539/614),OR=0.457,95％CI0.265～0.788,P=0.004].而DcR2(rs1 133782位点)基因多态性与UC患者临床病理特征的关联性无统计学意义(P＞0.05).由于对照组中DcR1基因型分布不符合Hardy-Weinberg平衡规律,故对其未进一步做统计学分析.结论 DcR2(rs1133782位点)基因多态性可能与UC的易感性相关;OPG(rs3102735位点)基因突变不仅会提高UC的患病风险,还可能影响UC的疾病严重程度.
目的 探討誘騙受體(DcR)1、DcR2及護骨素(OPG)基因的多態性與潰瘍性結腸炎(UC)易感性的關繫.方法 收集352例UC患者和463例性彆、年齡相匹配的健康對照者,採用微測序技術檢測DcR1(rs12549481位點)、DcR2(rs1133782位點)及OPG(rs3102735位點)的基因型頻率.結果 在顯性模型中,UC組DcR2(rs1133782位點)的突變等位基因(A)和基因型(GA+ AA)頻率均低于對照組[6.25％ (44/704)比8.96％(83/926),P=0.043;11.36％ (40/352)比17.28％(80/463),P=0.018];而在隱性模型中,UC組OPG(rs3102735位點)的突變等位基因(T)和純閤子突變基因型(TT)的頻率均高于對照組[86.36％(608/704)比81.53％(755/926),P=0.009;75.28％(265/352)比66.95％ (310/463),P=0.010].採用非條件Logistic迴歸分析髮現,重度UC患者中OPG(rs3102735位點)的突變等位基因(T)的頻率明顯低于輕-中度患者[76.67％(69/90)比87.79％(539/614),OR=0.457,95％CI0.265～0.788,P=0.004].而DcR2(rs1 133782位點)基因多態性與UC患者臨床病理特徵的關聯性無統計學意義(P＞0.05).由于對照組中DcR1基因型分佈不符閤Hardy-Weinberg平衡規律,故對其未進一步做統計學分析.結論 DcR2(rs1133782位點)基因多態性可能與UC的易感性相關;OPG(rs3102735位點)基因突變不僅會提高UC的患病風險,還可能影響UC的疾病嚴重程度.
목적 탐토유편수체(DcR)1、DcR2급호골소(OPG)기인적다태성여궤양성결장염(UC)역감성적관계.방법 수집352례UC환자화463례성별、년령상필배적건강대조자,채용미측서기술검측DcR1(rs12549481위점)、DcR2(rs1133782위점)급OPG(rs3102735위점)적기인형빈솔.결과 재현성모형중,UC조DcR2(rs1133782위점)적돌변등위기인(A)화기인형(GA+ AA)빈솔균저우대조조[6.25％ (44/704)비8.96％(83/926),P=0.043;11.36％ (40/352)비17.28％(80/463),P=0.018];이재은성모형중,UC조OPG(rs3102735위점)적돌변등위기인(T)화순합자돌변기인형(TT)적빈솔균고우대조조[86.36％(608/704)비81.53％(755/926),P=0.009;75.28％(265/352)비66.95％ (310/463),P=0.010].채용비조건Logistic회귀분석발현,중도UC환자중OPG(rs3102735위점)적돌변등위기인(T)적빈솔명현저우경-중도환자[76.67％(69/90)비87.79％(539/614),OR=0.457,95％CI0.265～0.788,P=0.004].이DcR2(rs1 133782위점)기인다태성여UC환자림상병리특정적관련성무통계학의의(P＞0.05).유우대조조중DcR1기인형분포불부합Hardy-Weinberg평형규률,고대기미진일보주통계학분석.결론 DcR2(rs1133782위점)기인다태성가능여UC적역감성상관;OPG(rs3102735위점)기인돌변불부회제고UC적환병풍험,환가능영향UC적질병엄중정도.
Objective To investigate the correlation between decoy receptor (DcR)1,DcR2 and osteoprotegerin (OPG) gene polymorphisms with the susceptibility to ulcerative colitis (UC) in Chinese population.Methods A total of 352 patients with UC as well as 463 sex-and age-matched healthy controls were recruited in the study.The genetic polymorphisms of DcR1 (rs12549481),DcR2(rs1133782) and OPG(rs3102735) were determined using a mini-sequencing technique method.Results In the autosomal dominant model,the rates of mutant allele (A) and genotype (GA + AA) of DcR2 (rs1 133782) were lower in UC patients compared to the controls [6.25％ (44/704) vs 8.96％ (83/926),P =0.043; 11.36％ (40/ 352) vs 17.28％ (80/463),P =0.018,respectively].In the recessive model,moreover,we found that the rates of mutant allele (T) and homozygote (TT) of OPG(rs3102735) were significantly increased in UC patients in contrast with the controls [86.36％ (608/704) vs 81.53％ (755/926),P =0.009; 75.28％ (265/352) vs 66.95％ (310/463),P =0.010,respectively].By means of unconditional Logistic regression analysis,the rate of mutant allele (T) of OPG (rs3102735) was shown to be significantly decreased in patients with severe UC compared to the other UC patients [76.67％ (69/90) vs 87.79％ (539/614),OR =0.457,95％ CI 0.265-0.788,P =0.004].Nevertheless,the genetic polymorphism of DcR2(rs1133782) was not significantly related to the clinical features in UC patients.In addition,the genotypic distribution of DcR1 (rs12549481) in control group did not conform to the Hardy-Weinberg equilibrium rule,thus a further statistical analysis was not performed in our study.Conclusions The genetic polymorphism of DcR2 (rs1133782) might be associated with the susceptibility to UC.Not only is the mutation of OPG(rs3102735) gene correlated to the development of UC,but also to the severity of disease.
