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目的分析载脂蛋白5(APOA5)基因的rs662799和rs964184位点,脂肪酸去饱和酶1(FADS1)基因的rs174547和rs174537位点在中国汉族人群中的分布频率及其对血脂水平和血脂异常发病风险的影响,并分析该4个位点构成的单倍体型与血脂异常发病风险相关性。方法收集汉族人群标本1 275人。采用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)检测该4个位点基因型。采用单因素方差分析比较各位点不同基因型血脂指标差异,二分类Logistic回归比较各型血脂异常发病风险的大小。采用基于R软件运行的Haplo.stats1.4.3.软件分析APOA5和FADS1基因单倍体型及其对血脂异常发病的相对危险度。结果 rs662799的AG和GG基因型与AA基因型相比,rs964184的CG和GG相对于CC基因型的HDL-C水平明显降低。rs174547 CC基因型相对于TC和TT基因型的HDL-C水平均明显降低,且rs174547 CC基因型与低HDL-C血症的发生存在统计关联。rs662799 GG基因型及rs964184 GG基因型与高TG血症、混合型高脂血症和低HDL-C血症发生存在统计关联;rs662799 AG基因型明显增加高TG血症的发生。与rs174547-rs174537-rs662799-rs964184位点TGAC单倍体型相比,TGGG单倍体型与高TG血症发生存在统计关联(OR=1.770,95%CI:1.033~3.035),CTGG单倍体型与混合型高脂血症(OR=2.239,95%CI:1.055~4.752)和低HDL血症(OR=1.823,95%CI:1.058~3.142)发生存在统计关联,CGAC单倍体型与低HDL血症发生存在统计关联(OR=1.702,95%CI:1.125~2.573)。结论 FADS1基因的rs174547与APOA5基因的rs662799和rs964184以及这两个基因多态性的单倍体型对中国汉族人群血脂水平均有显著影响。
Objective To analyze the frequencies of rs662799 and rs964184 of apolipoprotein 5 (APOA5) gene and the frequencies of rs174547 and rs174537 of fatty acid desaturase 1 (FADS1) gene in Chinese Han population and their effect on the level of lipids and the risk of dyslipidemia The correlation between haplotype and dyslipidemia in the four loci was analyzed. Methods A total of 1 275 Han population samples were collected. The genotypes of the four loci were detected by matrix-assisted laser desorption / ionization time-of-flight mass spectrometry (MALDI-TOF-MS). One-way analysis of variance (ANOVA) was used to compare the differences of blood lipid markers among different genotypes. Logistic regression was used to compare the risk of various types of dyslipidemia. Haplo.stats1.4.3 software based on R software was used to analyze the haplotypes of APOA5 and FADS1 genes and their relative risk of developing dyslipidemia. Results The AG and GG genotypes of rs662799 were significantly lower than those of AA genotypes for rs964184 in CG and GG relative to CC genotypes. The HDL-C levels of rs174547 CC genotype were significantly lower than those of TC and TT genotypes, and rs174547 CC genotype was associated with the occurrence of HDL-C hyperlipidemia. rs662799 GG genotype and rs964184 GG genotype were associated with hypercholesteremia, mixed hyperlipidemia and low HDL-C hyperlipidemia; rs662799 AG genotype significantly increased the incidence of hypercholesteremia. Compared with the TGAC haplotype at rs174547-rs174537-rs662799-rs964184, TGGG haplotype was associated with high triglyceridemia (OR = 1.770, 95% CI: 1.033-3.035) (OR = 2.239, 95% CI: 1.055 ~ 4.752) and low HDL (OR = 1.823,95% CI: 1.058 ~ 3.142). There was a statistically significant association between CGAC haplotype and hypo-HDL There was statistical correlation (OR = 1.702, 95% CI: 1.125-2.573). Conclusion The haplotypes of rs174547 of FADS1 gene, rs662799 and rs964184 of APOA5 gene and the polymorphisms of these two genes have significant effects on the blood lipid levels of Chinese Han population.