中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
5期
575-579
,共5页
王岚%莫祖聪%汪彦%姬郁林
王嵐%莫祖聰%汪彥%姬鬱林
왕람%막조총%왕언%희욱림
支气管哮喘%抑郁%5-羟色胺转运体%基因多态性
支氣管哮喘%抑鬱%5-羥色胺轉運體%基因多態性
지기관효천%억욱%5-간색알전운체%기인다태성
bronchial asthma%depression%5-hydroxytrypamine transporter%gene polymorphism
目的 检测5-羟色胺转运体(5-hydroxytryptamine transporter,5-HTT)基因的两种多态性(5-HTTLPR及Stin2),以探讨哮喘合并抑郁症的分子遗传学机制.方法 收集成人哮喘患者156例,采用汉密尔顿抑郁量表(Hamilton depression scale,HAMD)进行抑郁评分,将哮喘组分为哮喘合并抑郁组(HAMD≥8分)和单纯哮喘组(HAMD<8分).另设立两组对照,即抑郁症组(n=508)和健康对照组(n=433).采集所有受试者外周血,应用聚合酶链反应方法,扩增包括5-HTTLPR或Stin2多态区域的5-HTT基因片段,在琼脂糖凝胶电泳后使用全自动凝胶数码成像及分析系统分析扩增目的 基因片段.结果 Stin2多态性的基因型频率分布和等位基因频率分布显示,具有Stin2.12/Stin2.10基因型或Stin2.10等位基因型的男性发生哮喘的风险明显增加(Stin2.12/Stin2.10:OR=2.291,95%CI:1.195,4.390;Stin2.10:OR=1.942,95%CI:1.069-3.527),而5-HTTLPR的基因型和等位基因频率分布在哮喘(包括哮喘合并抑郁组和单纯哮喘组)或按性别分层的哮喘与健康对照之间的差异均无统计学意义(P均>0.05).结论 5-HTT基因Stin2多态位点可能在男性哮喘发病中发挥一定作用,该结果支持哮喘与抑郁之间可能存在一定遗传学发病机制相关性的假设.
目的 檢測5-羥色胺轉運體(5-hydroxytryptamine transporter,5-HTT)基因的兩種多態性(5-HTTLPR及Stin2),以探討哮喘閤併抑鬱癥的分子遺傳學機製.方法 收集成人哮喘患者156例,採用漢密爾頓抑鬱量錶(Hamilton depression scale,HAMD)進行抑鬱評分,將哮喘組分為哮喘閤併抑鬱組(HAMD≥8分)和單純哮喘組(HAMD<8分).另設立兩組對照,即抑鬱癥組(n=508)和健康對照組(n=433).採集所有受試者外週血,應用聚閤酶鏈反應方法,擴增包括5-HTTLPR或Stin2多態區域的5-HTT基因片段,在瓊脂糖凝膠電泳後使用全自動凝膠數碼成像及分析繫統分析擴增目的 基因片段.結果 Stin2多態性的基因型頻率分佈和等位基因頻率分佈顯示,具有Stin2.12/Stin2.10基因型或Stin2.10等位基因型的男性髮生哮喘的風險明顯增加(Stin2.12/Stin2.10:OR=2.291,95%CI:1.195,4.390;Stin2.10:OR=1.942,95%CI:1.069-3.527),而5-HTTLPR的基因型和等位基因頻率分佈在哮喘(包括哮喘閤併抑鬱組和單純哮喘組)或按性彆分層的哮喘與健康對照之間的差異均無統計學意義(P均>0.05).結論 5-HTT基因Stin2多態位點可能在男性哮喘髮病中髮揮一定作用,該結果支持哮喘與抑鬱之間可能存在一定遺傳學髮病機製相關性的假設.
목적 검측5-간색알전운체(5-hydroxytryptamine transporter,5-HTT)기인적량충다태성(5-HTTLPR급Stin2),이탐토효천합병억욱증적분자유전학궤제.방법 수집성인효천환자156례,채용한밀이돈억욱량표(Hamilton depression scale,HAMD)진행억욱평분,장효천조분위효천합병억욱조(HAMD≥8분)화단순효천조(HAMD<8분).령설립량조대조,즉억욱증조(n=508)화건강대조조(n=433).채집소유수시자외주혈,응용취합매련반응방법,확증포괄5-HTTLPR혹Stin2다태구역적5-HTT기인편단,재경지당응효전영후사용전자동응효수마성상급분석계통분석확증목적 기인편단.결과 Stin2다태성적기인형빈솔분포화등위기인빈솔분포현시,구유Stin2.12/Stin2.10기인형혹Stin2.10등위기인형적남성발생효천적풍험명현증가(Stin2.12/Stin2.10:OR=2.291,95%CI:1.195,4.390;Stin2.10:OR=1.942,95%CI:1.069-3.527),이5-HTTLPR적기인형화등위기인빈솔분포재효천(포괄효천합병억욱조화단순효천조)혹안성별분층적효천여건강대조지간적차이균무통계학의의(P균>0.05).결론 5-HTT기인Stin2다태위점가능재남성효천발병중발휘일정작용,해결과지지효천여억욱지간가능존재일정유전학발병궤제상관성적가설.
Objective To explore the molecular genetic mechanism of complicating depression in asthma by detecting two gene polymorphisms of 5-hydroxytryptamine transporter (5-HTTLPR/Stin2) gene. Methods One hundred fifty-six adults with asthma were collected, and divided into group of asthma with depression (HAMD score ≥ 8) and group of asthma without depression or single asthma (HAMD score < 8) according to the score of Hamilton depression scale (HAMD). A total of 508 adults with depression alone and 433 healthy individuals were enrolled as controls. The target gene fragments containing the polymorphic regions of 5-HTTLPR and Stin2 were amplified by polymerase chain reaction (PCR). The amplified fragments were then analyzed using agarose gel eleetrophoresis (AGE) and motored molecular imaging system. Results The frequencies of genotype and allele distribution of the Stin2 polymorphism showed that males with genotype Stin2. 12/Stin2.10 and allele Stin2.10 had higher risk for asthma than the others (Stin2.12/Stin2.10: OR=2.291, 95%CI:1.195 and4.390; Stin2.10: OR=1.942, 95%CI:1.069-3.527). No significant difference was found in the frequencies of genotype and allele distribution of the 5-HTTLPR locus between the asthma and healthy control groups and the two stratified by gender. Conclusion The Stin2 polymorphism may play a role in the onset of male asthma. There might be association between the genetic pathogenesis of asthma and depression.
