中国肿瘤临床
中國腫瘤臨床
중국종류림상
CHINESE JOURNAL OF CLINICAL ONCOLOGY
2014年
22期
1437-1441
,共5页
周荣秒%王娜%牛朝旭%黄茜%霍向然%李琰
週榮秒%王娜%牛朝旭%黃茜%霍嚮然%李琰
주영초%왕나%우조욱%황천%곽향연%리염
PLCε1基因%单核苷酸多态性%食管鳞状细胞癌%遗传易感性
PLCε1基因%單覈苷痠多態性%食管鱗狀細胞癌%遺傳易感性
PLCε1기인%단핵감산다태성%식관린상세포암%유전역감성
PLCε1 gene%single nucleotide polymorphism%esophageal squamous cell carcinoma%genetic susceptibility
目的：探讨PLCε1基因rs2274223 A/G单核苷酸多态性（single nucleotide polymorphism，SNP）和rs11599672 T/G SNP与河北省磁县高发区人群食管鳞状细胞癌（esophageal squamous cell carcinoma，ESCC）遗传易感性之间的关系。方法：采用聚合酶链反应-连接酶检测反应（polymerase chain reaction-ligase detection reaction，PCR-LDR）方法对527例ESCC患者和527例健康对照PLCε1基因rs2274223 A/G SNP和rs11599672 T/G SNP进行基因分型。结果：ESCC患者组上消化道肿瘤（upper gastrointestinal can?cer，UGIC）家族史阳性个体比例为48.6%，显著高于健康对照组（39.3%，χ2=9.25，P=0.002）。ESCC患者组及健康对照组PLCε1基因rs2274223 A/G SNP AA、AG、GG基因型频率分别为48.0%、43.9%、8.1%和57.1%、37.5%、5.4%。与AA基因型相比，携带AG、GG、AG/GG基因型可能增加ESCC的发病风险，经年龄、性别、吸烟状况、UGIC家族史校正后的OR值分别为1.41（95%CI=1.09～1.83）、1.71（95%CI=1.03～2.86）、1.45（95%CI=1.13～1.85）。PLCε1基因rs11599672 T/G SNP等位基因频率和基因型频率总体分布在ESCC患者组及健康对照组之间无显著性差异（P>0.05）。应用2LD软件对PLCε1基因rs2274223 A/G SNP和rs11599672 T/G SNP进行联合分析显示，两个多态性位点间不存在连锁不平衡现象（D'=0.11）。与最常见的AT单体型相比，GT单体型增加了ES?CC的发病风险（OR=1.36，95%CI=1.08～1.71）。结论：PLCε1基因rs2274223 A/G SNP可以作为高发区人群ESCC遗传易感性的标志物。UGIC家族史阳性个体、携带PLCε1基因rs2274223 A/G SNP AG、GG基因型的个体罹患ESCC的风险较高，应定期接受食管内镜检查，以便真正实现ESCC的早期诊断、早期治疗。
目的：探討PLCε1基因rs2274223 A/G單覈苷痠多態性（single nucleotide polymorphism，SNP）和rs11599672 T/G SNP與河北省磁縣高髮區人群食管鱗狀細胞癌（esophageal squamous cell carcinoma，ESCC）遺傳易感性之間的關繫。方法：採用聚閤酶鏈反應-連接酶檢測反應（polymerase chain reaction-ligase detection reaction，PCR-LDR）方法對527例ESCC患者和527例健康對照PLCε1基因rs2274223 A/G SNP和rs11599672 T/G SNP進行基因分型。結果：ESCC患者組上消化道腫瘤（upper gastrointestinal can?cer，UGIC）傢族史暘性箇體比例為48.6%，顯著高于健康對照組（39.3%，χ2=9.25，P=0.002）。ESCC患者組及健康對照組PLCε1基因rs2274223 A/G SNP AA、AG、GG基因型頻率分彆為48.0%、43.9%、8.1%和57.1%、37.5%、5.4%。與AA基因型相比，攜帶AG、GG、AG/GG基因型可能增加ESCC的髮病風險，經年齡、性彆、吸煙狀況、UGIC傢族史校正後的OR值分彆為1.41（95%CI=1.09～1.83）、1.71（95%CI=1.03～2.86）、1.45（95%CI=1.13～1.85）。PLCε1基因rs11599672 T/G SNP等位基因頻率和基因型頻率總體分佈在ESCC患者組及健康對照組之間無顯著性差異（P>0.05）。應用2LD軟件對PLCε1基因rs2274223 A/G SNP和rs11599672 T/G SNP進行聯閤分析顯示，兩箇多態性位點間不存在連鎖不平衡現象（D'=0.11）。與最常見的AT單體型相比，GT單體型增加瞭ES?CC的髮病風險（OR=1.36，95%CI=1.08～1.71）。結論：PLCε1基因rs2274223 A/G SNP可以作為高髮區人群ESCC遺傳易感性的標誌物。UGIC傢族史暘性箇體、攜帶PLCε1基因rs2274223 A/G SNP AG、GG基因型的箇體罹患ESCC的風險較高，應定期接受食管內鏡檢查，以便真正實現ESCC的早期診斷、早期治療。
목적：탐토PLCε1기인rs2274223 A/G단핵감산다태성（single nucleotide polymorphism，SNP）화rs11599672 T/G SNP여하북성자현고발구인군식관린상세포암（esophageal squamous cell carcinoma，ESCC）유전역감성지간적관계。방법：채용취합매련반응-련접매검측반응（polymerase chain reaction-ligase detection reaction，PCR-LDR）방법대527례ESCC환자화527례건강대조PLCε1기인rs2274223 A/G SNP화rs11599672 T/G SNP진행기인분형。결과：ESCC환자조상소화도종류（upper gastrointestinal can?cer，UGIC）가족사양성개체비례위48.6%，현저고우건강대조조（39.3%，χ2=9.25，P=0.002）。ESCC환자조급건강대조조PLCε1기인rs2274223 A/G SNP AA、AG、GG기인형빈솔분별위48.0%、43.9%、8.1%화57.1%、37.5%、5.4%。여AA기인형상비，휴대AG、GG、AG/GG기인형가능증가ESCC적발병풍험，경년령、성별、흡연상황、UGIC가족사교정후적OR치분별위1.41（95%CI=1.09～1.83）、1.71（95%CI=1.03～2.86）、1.45（95%CI=1.13～1.85）。PLCε1기인rs11599672 T/G SNP등위기인빈솔화기인형빈솔총체분포재ESCC환자조급건강대조조지간무현저성차이（P>0.05）。응용2LD연건대PLCε1기인rs2274223 A/G SNP화rs11599672 T/G SNP진행연합분석현시，량개다태성위점간불존재련쇄불평형현상（D'=0.11）。여최상견적AT단체형상비，GT단체형증가료ES?CC적발병풍험（OR=1.36，95%CI=1.08～1.71）。결론：PLCε1기인rs2274223 A/G SNP가이작위고발구인군ESCC유전역감성적표지물。UGIC가족사양성개체、휴대PLCε1기인rs2274223 A/G SNP AG、GG기인형적개체리환ESCC적풍험교고，응정기접수식관내경검사，이편진정실현ESCC적조기진단、조기치료。
Objective: To explore the association of PLCε1 gene rs2274223 A/G single nucleotide polymorphism (SNP) and rs11599672 T/G SNP with susceptibility to esophageal squamous cell carcinoma (ESCC) in a population of Ci County high-incidence region in Hebei Province. Methods:The genotypes of PLCε1 gene rs2274223 A/G SNP and rs11599672 T/G SNP were determined by polymerase chain reaction–ligase detection reaction method in 527 ESCC patients and 527 healthy controls. Results:The frequency of positive family history of upper gastrointestinal cancer UGIC in ESCC patients was 48.6%, which is significantly higher than that in the healthy controls (39.3%) (χ2=9.25, P=0.002). The AA, AG, and GG genotype frequencies of PLCε1 gene rs2274223 A/G SNP were 48.0%, 43.9%, 8.1%in the ESCC patients and 57.1%, 37.5%, 5.4%in the healthy controls, respectively. Compared with AA genotype, AG, GG, and AG/GG genotypes enhanced the risk of ESCC. The age, sex, smoking status, and UGIC family history-adjusted OR were 1.41 (95%CI=1.09-1.83), 1.71 (95%CI=1.03-2.86), and 1.45 (95%CI=1.13-1.85), respectively. No significant difference was observed in the frequency of the genotype and allele of PLCε1 gene rs11599672 T/G SNP between the ESCC cases and the controls (P>0.05). PLCε1 gene rs2274223 A/G SNP and rs11599672 T/G SNP were combined for analysis using a 2LD software. Results showed that no linkage disequilibrium exists between these two SNPs (D'=0.11). Compared with the most frequent AT haplotype, the GT haplotype sig-nificantly increased the risk of ESCC (OR=1.36, 95%CI=1.08-1.71). Conclusion:PLCε1 gene rs2274223 A/G SNP might serve as a marker predicting genetic susceptibility to ESCC of the population from Ci County. The subjects with UGIC family history and the AG-or GG-genotype carriers had higher risk of ESCC and should receive periodic upper gastrointestinal fiber tests for early detection and treatment of ESCC.
