中国癌症杂志
中國癌癥雜誌
중국암증잡지
CHINA ONCOLOGY
2015年
2期
119-128
,共10页
王松%胡斌%雍军%冯娟%王玲玲%阿依恒·曲库尔汗
王鬆%鬍斌%雍軍%馮娟%王玲玲%阿依恆·麯庫爾汗
왕송%호빈%옹군%풍연%왕령령%아의항·곡고이한
碱基切除修复通路%X射线交错互补修复基因%单核苷酸多态性%喉癌%易感性
堿基切除脩複通路%X射線交錯互補脩複基因%單覈苷痠多態性%喉癌%易感性
감기절제수복통로%X사선교착호보수복기인%단핵감산다태성%후암%역감성
Base excision repair pathways%X-ray repair cross complementing group 1%SNP%Laryngeal cancer%Susceptibility
背景与目的：影响肿瘤遗传易感性的修复基因主要存在修复通路碱基切除修复(base excision repair，BER)途径，而X射线交错互补修复基因1(X-ray repair cross complementing group 1，XRCC1)是BER通路中的核心基因。近几年，国内外开展了许多有关基因多态性和喉癌易感性的研究。探讨BER通路DNA修复基因XRCC1多位点单核甘酸多态性与新疆不同民族喉癌易感性关系。方法：采用患者组与对照组的研究方法，选择58例喉癌(经病理证实为鳞状细胞癌)患者和120名体检正常的健康人对照，应用Multiplex SNaPshot技术检测DNA碱基切除修复基因XRCC1的Gln632Gln(rs3547)、Arg399Gln(rs25487)、Arg280His(rs25489)、Arg194Trp(rs1799782)位点单核苷酸多态在患者组和正常对照组中的分布情况。结果：喉癌患者组中XRCC1 Arg280His(rs25489)C/T(杂合型)及T/T(突变型)基因型的比例与对照组比较差异无统计学意义(P>0.05)。喉癌患者组中XRCC1的其余3个位点Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487) C/T(杂合型)及T/T(突变型)基因型、Arg194Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型的比例明显高于对照组(P＜0.01)。其中汉、维、哈3个民族患者组Gln632Gln(rs3547)C/T(杂合型)及T/T(突变型)基因型、Arg399Gln(rs25487)C/T(杂合型)及T/T(突变型)基因型、Arg194Trp(rs1799782)G/A(杂合型)及A/A(突变型)基因型比例显著高于对照组(P＜0.05)，携带(rs3547)C/T及T/T基因型、(rs25487)C/T及T/T基因型、(rs1799782)G/A及A/A基因型个体较携带XRCC1(rs3547)C/C基因型、(rs25487)C/C基因型、(rs1799782)G/G基因型的个体患喉鳞状细胞癌的风险升高了分别为0.96倍、1.74倍、1.39倍；1.47倍、1.32倍、0.77倍，1.49倍、1.51倍、1.56倍。结论：汉、维、哈3个民族的XRCC1 Gln632Gln、Arg399Gln、Arg280His、Arg194Trp位点的单核苷酸多态性可能与喉癌遗传性有关联且有差异，XRCC1基因中的Gln632Gln、Arg399Gln、Arg194Trp位点的突变将导致喉癌的发病风险升高。而XRCC1基因中的Arg280His位点突变与喉癌发病的差异无统计学意义，可能该位点的突变与喉癌发病无关。
揹景與目的：影響腫瘤遺傳易感性的脩複基因主要存在脩複通路堿基切除脩複(base excision repair，BER)途徑，而X射線交錯互補脩複基因1(X-ray repair cross complementing group 1，XRCC1)是BER通路中的覈心基因。近幾年，國內外開展瞭許多有關基因多態性和喉癌易感性的研究。探討BER通路DNA脩複基因XRCC1多位點單覈甘痠多態性與新疆不同民族喉癌易感性關繫。方法：採用患者組與對照組的研究方法，選擇58例喉癌(經病理證實為鱗狀細胞癌)患者和120名體檢正常的健康人對照，應用Multiplex SNaPshot技術檢測DNA堿基切除脩複基因XRCC1的Gln632Gln(rs3547)、Arg399Gln(rs25487)、Arg280His(rs25489)、Arg194Trp(rs1799782)位點單覈苷痠多態在患者組和正常對照組中的分佈情況。結果：喉癌患者組中XRCC1 Arg280His(rs25489)C/T(雜閤型)及T/T(突變型)基因型的比例與對照組比較差異無統計學意義(P>0.05)。喉癌患者組中XRCC1的其餘3箇位點Gln632Gln(rs3547)C/T(雜閤型)及T/T(突變型)基因型、Arg399Gln(rs25487) C/T(雜閤型)及T/T(突變型)基因型、Arg194Trp(rs1799782)G/A(雜閤型)及A/A(突變型)基因型的比例明顯高于對照組(P＜0.01)。其中漢、維、哈3箇民族患者組Gln632Gln(rs3547)C/T(雜閤型)及T/T(突變型)基因型、Arg399Gln(rs25487)C/T(雜閤型)及T/T(突變型)基因型、Arg194Trp(rs1799782)G/A(雜閤型)及A/A(突變型)基因型比例顯著高于對照組(P＜0.05)，攜帶(rs3547)C/T及T/T基因型、(rs25487)C/T及T/T基因型、(rs1799782)G/A及A/A基因型箇體較攜帶XRCC1(rs3547)C/C基因型、(rs25487)C/C基因型、(rs1799782)G/G基因型的箇體患喉鱗狀細胞癌的風險升高瞭分彆為0.96倍、1.74倍、1.39倍；1.47倍、1.32倍、0.77倍，1.49倍、1.51倍、1.56倍。結論：漢、維、哈3箇民族的XRCC1 Gln632Gln、Arg399Gln、Arg280His、Arg194Trp位點的單覈苷痠多態性可能與喉癌遺傳性有關聯且有差異，XRCC1基因中的Gln632Gln、Arg399Gln、Arg194Trp位點的突變將導緻喉癌的髮病風險升高。而XRCC1基因中的Arg280His位點突變與喉癌髮病的差異無統計學意義，可能該位點的突變與喉癌髮病無關。
배경여목적：영향종류유전역감성적수복기인주요존재수복통로감기절제수복(base excision repair，BER)도경，이X사선교착호보수복기인1(X-ray repair cross complementing group 1，XRCC1)시BER통로중적핵심기인。근궤년，국내외개전료허다유관기인다태성화후암역감성적연구。탐토BER통로DNA수복기인XRCC1다위점단핵감산다태성여신강불동민족후암역감성관계。방법：채용환자조여대조조적연구방법，선택58례후암(경병리증실위린상세포암)환자화120명체검정상적건강인대조，응용Multiplex SNaPshot기술검측DNA감기절제수복기인XRCC1적Gln632Gln(rs3547)、Arg399Gln(rs25487)、Arg280His(rs25489)、Arg194Trp(rs1799782)위점단핵감산다태재환자조화정상대조조중적분포정황。결과：후암환자조중XRCC1 Arg280His(rs25489)C/T(잡합형)급T/T(돌변형)기인형적비례여대조조비교차이무통계학의의(P>0.05)。후암환자조중XRCC1적기여3개위점Gln632Gln(rs3547)C/T(잡합형)급T/T(돌변형)기인형、Arg399Gln(rs25487) C/T(잡합형)급T/T(돌변형)기인형、Arg194Trp(rs1799782)G/A(잡합형)급A/A(돌변형)기인형적비례명현고우대조조(P＜0.01)。기중한、유、합3개민족환자조Gln632Gln(rs3547)C/T(잡합형)급T/T(돌변형)기인형、Arg399Gln(rs25487)C/T(잡합형)급T/T(돌변형)기인형、Arg194Trp(rs1799782)G/A(잡합형)급A/A(돌변형)기인형비례현저고우대조조(P＜0.05)，휴대(rs3547)C/T급T/T기인형、(rs25487)C/T급T/T기인형、(rs1799782)G/A급A/A기인형개체교휴대XRCC1(rs3547)C/C기인형、(rs25487)C/C기인형、(rs1799782)G/G기인형적개체환후린상세포암적풍험승고료분별위0.96배、1.74배、1.39배；1.47배、1.32배、0.77배，1.49배、1.51배、1.56배。결론：한、유、합3개민족적XRCC1 Gln632Gln、Arg399Gln、Arg280His、Arg194Trp위점적단핵감산다태성가능여후암유전성유관련차유차이，XRCC1기인중적Gln632Gln、Arg399Gln、Arg194Trp위점적돌변장도치후암적발병풍험승고。이XRCC1기인중적Arg280His위점돌변여후암발병적차이무통계학의의，가능해위점적돌변여후암발병무관。
Background and purpose:Major repair genes that affect the tumor genetic susceptibility exists in repair pathways base excision repair (BER) approach, X-ray repair cross complementing group 1(XRCC1) gene, respectively is the core of BER pathway. At home and abroad in recent years, has carried out many studies of genetic polymorphism and laryngeal cancer susceptibility. Researching on the base excision repair (BER) pathway of DNA repair geneXRCC1 bases mononuclear nucleotide polymorphism and the relationship between different ethnic groups laryngeal cancer susceptibility in xinjiang.Methods:A case-control study was performed on 58 patient with laryngeal squamous cell carcinoma and 120 random healthy control group. Multiplex SNaPshot technic was used to detect DNA base excision repair geneXRCC1 Gln632Gln (rs3547), Arg399Gln (rs25487), Arg280His (rs25489), Arg194Trp (rs1799782) loci single nucleotide polymorphism distribution in the case group and normal control group.Results:Three sites of the rest of the cases ofXRCC1 Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype, Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype, Arg194Trp (rs1799782) G/A (hybrid) and A/A (mutant) genotype is notably higher than that of control group (P<0.01). Gln632Gln (rs3547) C/T (hybrid) and T/T (mutant) genotype, Arg399Gln (rs25487) C/T (hybrid) and T/T (mutant) genotype, Arg194Trp (rs1799782) G/A (hybrid) and A/A (mutant) genotype ratio is signiifcantly higher than control group (P<0.05) in cases of Han,Uygur and Kazakh nations, carrying (rs3547) C/T and T/T genotype, (rs25487) C/T and T/T genotype, (rs1799782) G/A and A/A genotype individual risk of laryngeal squamous cell carcinoma are added to the 0.96, 1.74 and 1.39 times; 1.47, 1.32 and 0.77 times; 1.49, 1.51 and 1.56 times thanXRCC1 (rs3547) C/C genotype, (rs25487) C/C genotype, (rs1799782) G/G genotype.Conclusion:In the 3 nations,XRCC1 Gln632Gln, Arg399Gln, Arg280His and Arg194Trp loci polymorphism may be associated with laryngeal cancer genetic and there are differences,XRCC1 Gln632Gln, Arg399Gln, Arg194Trp locus mutation will lead to an elevated risk of throat cancer.XRCC1 Arg280His locus mutation has no statistically signiifcant difference with the onset of throat cancer, may have nothing to do with the onset of laryngeal cancer on the site of mutation.
