CAJ | 학술논문

目的：探讨人类白细胞抗原（human leukocyte antigen, HLA）基因、血管紧张素转换酶（An-giotensin-Coverting Enzyme, ACE）基因及载脂蛋白E（Apolipoprotein E, ApoE）基因多态性与新疆维吾尔族自然长寿的关系。方法将研究对象根据年龄分为长寿组和老年组，同时选择同一地区无血缘关系已自然死亡（61~73岁）者为对照组。分别应用聚合酶链反应-序列特异引物法（PCR-SSP），单链构象多态性（SSCP）分析和直接测序技术对长寿组、老年组、对照组进行基因分型。结果长寿组HLA-DR1，DR6（14）基因频率较对照组升高（P<0.05），与老年组比较差异无统计学意义；长寿组HLA-DR9基因频率较对照组降低（P<0.05），较老年组显著降低（P<0.01）；长寿组HLA-DR51基因频率较老年组降低（P<0.05），与对照组比较差异无统计学意义。在ACE基因分析中，长寿组D/D基因型频率较对照组显著升高（P<0.01），而较老年组升高（P<0.05），另外，长寿组D等位基因频率也高于对照组（P<0.05），与老年组比较差异无统计学意义；另外，3组间DI，Ⅱ基因型比较未见明显差异。 ApoE基因分析中，长寿组ε3/3基因型频率较老年组升高（P<0.05），与对照组比较差异无统计学意义；长寿组ε4/3基因型频率较对照组明显降低（P<0.001），较老年组也显著降低（P<0.01）；其余基因型比较差异无统计学意义。结论 HLA-DRB基因的DR1,DR6(14)等位基因，ApoE的ε4/3基因型及ACE基因的DD基因型，D等位基因对长寿可能有保护作用，是长寿有利基因；HLA-DRB基因的DR9基因型可能不利于长寿，是长寿的危险因素。
목적：탐토인류백세포항원（human leukocyte antigen, HLA）기인、혈관긴장소전환매（An-giotensin-Coverting Enzyme, ACE）기인급재지단백E（Apolipoprotein E, ApoE）기인다태성여신강유오이족자연장수적관계。방법장연구대상근거년령분위장수조화노년조，동시선택동일지구무혈연관계이자연사망（61~73세）자위대조조。분별응용취합매련반응-서렬특이인물법（PCR-SSP），단련구상다태성（SSCP）분석화직접측서기술대장수조、노년조、대조조진행기인분형。결과장수조HLA-DR1，DR6（14）기인빈솔교대조조승고（P<0.05），여노년조비교차이무통계학의의；장수조HLA-DR9기인빈솔교대조조강저（P<0.05），교노년조현저강저（P<0.01）；장수조HLA-DR51기인빈솔교노년조강저（P<0.05），여대조조비교차이무통계학의의。재ACE기인분석중，장수조D/D기인형빈솔교대조조현저승고（P<0.01），이교노년조승고（P<0.05），령외，장수조D등위기인빈솔야고우대조조（P<0.05），여노년조비교차이무통계학의의；령외，3조간DI，Ⅱ기인형비교미견명현차이。 ApoE기인분석중，장수조ε3/3기인형빈솔교노년조승고（P<0.05），여대조조비교차이무통계학의의；장수조ε4/3기인형빈솔교대조조명현강저（P<0.001），교노년조야현저강저（P<0.01）；기여기인형비교차이무통계학의의。결론 HLA-DRB기인적DR1,DR6(14)등위기인，ApoE적ε4/3기인형급ACE기인적DD기인형，D등위기인대장수가능유보호작용，시장수유리기인；HLA-DRB기인적DR9기인형가능불리우장수，시장수적위험인소。
Objectives To explore the potential relationship among the polymorphisms of HLA-DRB gene, ACE gene, and ApoE gene linked to natural longevity in the Xinjiang Uighur nationality people. Methods The study popula-tion was divided into three groups: the longevity group, the older age group and the control group. Using PCR-SSP, SSCP (single strand conformation polymorphism) and direct sequencing technique respectively to genotype each group. Results The frequency of HLA-DR1, DR6(14) in the longevity group was higher than the control(P< 0.05), but no significant dif-ference could be found when compared with the older age group. The frequency of HLA-DR9 in the longevity group was lower than the control (P<0.05), which was significantly lower than the older age group (P<0.01). The frequency of HLA-DR51 in the longevity group was lower than the older age group (P< 0.05), but no significant difference could be found when compared with the controls. The frequency of ACE DD genotype in the longevity group was significantly higher than the control (P<0.01), the older age group (P<0.05), and the frequency of D allele in the longevity group was higher than the control(P<0.05) but no significant difference was detected when compared with the older age group. There was no significant difference in the frequencies of other genotypes between three groups; The frequency of ApoE ε3/3 genotype in the longevity group was higher than the older age group (P< 0.05), but no significant difference when compared with the controls. The frequency of ApoEε3/4 genotype in the longevity group was significantly lower than the control and the older age group (P< 0.001, P< 0.01). There was no significant difference between the three groups in the frequencies of other genotypes; Conclusion HLA-DR1, DR6 (14) genotype, ApoE ε3/4 genotype and ACE DD genotype, D allele might be the favorable genes of human longevity;and HLA-DR9 genotype might be deleterious gene of human longevity.