中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
1期
97-100
,共4页
梁文华%周兆山%吉中强%王燕青%薛卫林%张小燕
樑文華%週兆山%吉中彊%王燕青%薛衛林%張小燕
량문화%주조산%길중강%왕연청%설위림%장소연
哮喘%IL-4基因%IL-4R基因%单核苷酸多态性%关联研究
哮喘%IL-4基因%IL-4R基因%單覈苷痠多態性%關聯研究
효천%IL-4기인%IL-4R기인%단핵감산다태성%관련연구
Asthma%Interleukin-4 gene%Interleukin-4 receptor gene%Single nucleotide polymorphisms%Association analyses
目的 探讨白细胞介素4(interleukin-4,IL-4)基因和白细胞介素4受体(interleukin-4 receptor,IL-4R)基因多态性与青岛地区汉族成人哮喘的相关性.方法 应用SNaPshot方法对400例哮喘患者和200名正常对照的IL4基因启动子区rs2243250、rs2243283和IL-4R基因rs1805012、rs1801275、rs1805010共5个多态位点的基因多态性进行检测.结果 哮喘组rs1805012位点TC基因型频率为8.8％,低于对照组的15.5％,差异有统计学意义(x2=6.498,P=0.039),哮喘组TC+ CC基因型频率为9.0％,低于对照组的15.5％,差异有统计学意义(x2=5.522,P=0.019);哮喘组C等位基因频率为4.6％,低于对照组的7.7％,差异有统计学意义(x2=4.729,P=0.039).其余rs2243250、rs2243283、rs1801275和rs1805010这4个位点的基因型和等位基因频率在哮喘组与对照组间差异无统计学意义(P＞0.05).IL-4单倍型频率在哮喘组与对照组间差异亦无统计学意义(P＞0.05).结论 IL-4R基因rs1805012位点多态性与青岛地区汉族成人哮喘存在相关性,其TC+ CC基因型可能是哮喘病的保护因子.但是IL-4的基因多态性与青岛地区汉族成人哮喘无相关关系.
目的 探討白細胞介素4(interleukin-4,IL-4)基因和白細胞介素4受體(interleukin-4 receptor,IL-4R)基因多態性與青島地區漢族成人哮喘的相關性.方法 應用SNaPshot方法對400例哮喘患者和200名正常對照的IL4基因啟動子區rs2243250、rs2243283和IL-4R基因rs1805012、rs1801275、rs1805010共5箇多態位點的基因多態性進行檢測.結果 哮喘組rs1805012位點TC基因型頻率為8.8％,低于對照組的15.5％,差異有統計學意義(x2=6.498,P=0.039),哮喘組TC+ CC基因型頻率為9.0％,低于對照組的15.5％,差異有統計學意義(x2=5.522,P=0.019);哮喘組C等位基因頻率為4.6％,低于對照組的7.7％,差異有統計學意義(x2=4.729,P=0.039).其餘rs2243250、rs2243283、rs1801275和rs1805010這4箇位點的基因型和等位基因頻率在哮喘組與對照組間差異無統計學意義(P＞0.05).IL-4單倍型頻率在哮喘組與對照組間差異亦無統計學意義(P＞0.05).結論 IL-4R基因rs1805012位點多態性與青島地區漢族成人哮喘存在相關性,其TC+ CC基因型可能是哮喘病的保護因子.但是IL-4的基因多態性與青島地區漢族成人哮喘無相關關繫.
목적 탐토백세포개소4(interleukin-4,IL-4)기인화백세포개소4수체(interleukin-4 receptor,IL-4R)기인다태성여청도지구한족성인효천적상관성.방법 응용SNaPshot방법대400례효천환자화200명정상대조적IL4기인계동자구rs2243250、rs2243283화IL-4R기인rs1805012、rs1801275、rs1805010공5개다태위점적기인다태성진행검측.결과 효천조rs1805012위점TC기인형빈솔위8.8％,저우대조조적15.5％,차이유통계학의의(x2=6.498,P=0.039),효천조TC+ CC기인형빈솔위9.0％,저우대조조적15.5％,차이유통계학의의(x2=5.522,P=0.019);효천조C등위기인빈솔위4.6％,저우대조조적7.7％,차이유통계학의의(x2=4.729,P=0.039).기여rs2243250、rs2243283、rs1801275화rs1805010저4개위점적기인형화등위기인빈솔재효천조여대조조간차이무통계학의의(P＞0.05).IL-4단배형빈솔재효천조여대조조간차이역무통계학의의(P＞0.05).결론 IL-4R기인rs1805012위점다태성여청도지구한족성인효천존재상관성,기TC+ CC기인형가능시효천병적보호인자.단시IL-4적기인다태성여청도지구한족성인효천무상관관계.
Objective To assess the association of polymorphisms of IL-4 gene (rs2243250,rs2243283) and IL-4R gene (rs1805012,rs1801275,rs1805010) with susceptibility to asthma among ethnic Chinese in Qingdao.Methods For 400 asthma patients and 200 healthy subjects,above polymorphisms were detected with SnaPshot method.Results For rs1805012,the frequency of TC genotype in the asthma group was significantly lower than the control group (8.8％ vs.15.5％,x2 =6.498,P=0.039),and so were the frequencies of TC+CC genotypes (9.0％ vs.15.5％,x2 =5.522,P=0.019) and the C allele (4.6％ vs.7.7％,x2 =4.729,P=0.039).No significant difference was detected between the two groups in the frequency of the remaining four polymorphisms or the haplotypes formed by rs2243250 and rs2243283(All P＞0.05).Conclusion This study has indicated that rs1805012 polymorphism of IL-4R gene is associated with asthma in ethnic Han Chinese from Qingdao region.TC+CC genotypes have a protective role against asthma compared with TT genotype.However,polymorphisms of IL-4 gene are not associated with susceptibility to asthma.
