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溶血磷脂酰胆碱代谢酶的遗传变异与血清脂质水平的关联。

Associations of genetic variants of lysophosphatidylcholine metabolic enzymes with levels of serum lipids.

机构信息

Department of Maternal and Child Health, School of Public Health, Peking University, Beijing, China.

Hospital of Health Science Center, Peking University, Beijing, China.

出版信息

Pediatr Res. 2022 May;91(6):1595-1599. doi: 10.1038/s41390-021-01549-9. Epub 2021 May 2.

Abstract

OBJECTIVE

Metabolic disturbance of lysophosphatidylcholine (LPC) is related with dyslipidemia. Therefore, eight single-nucleotide polymorphisms (SNPs) were selected from LPC metabolic enzymes to study their associations with obesity and serum levels of lipids.

METHODS

A total of 3305 children were recruited from four independent studies. Eight SNPs of LPC metabolic enzymes were selected and genotyped with the matrix-assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF MS). The multivariable linear regression model was applied to detect the associations of eight SNPs with obesity-related phenotypes and levels of lipids in each study. Meta-analyses were used to combine the results of four studies.

RESULTS

Only SNP rs4420638 of APOC-1 gene was associated with serum lipids even after Bonferroni correction. The rs4420638 was positively associated with TC (β = 0.15, P = 8.59 × 10) and low-density-lipoprotein-cholesterol (LDL-C, β = 0.16, P = 9.98 × 10) individually.

CONCLUSION

The study firstly revealed the association between APOC-1/rs4420638 and levels of serum lipids in Chinese children, providing evidence for susceptible gene variants of dyslipidemia.

摘要

目的

溶血磷脂酰胆碱(LPC)的代谢紊乱与血脂异常有关。因此,从 LPC 代谢酶中选择了 8 个单核苷酸多态性(SNP),以研究它们与肥胖和血清脂质水平的关系。

方法

从四项独立研究中招募了 3305 名儿童。选择 LPC 代谢酶的 8 个 SNP 并使用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)进行基因分型。多元线性回归模型用于检测每个研究中 8 个 SNP 与肥胖相关表型和血脂水平的关联。使用荟萃分析合并四项研究的结果。

结果

即使经过 Bonferroni 校正,只有载脂蛋白 C-1(APOC-1)基因的 SNP rs4420638 与血清脂质相关。rs4420638 与 TC(β=0.15,P=8.59×10)和低密度脂蛋白胆固醇(LDL-C,β=0.16,P=9.98×10)呈正相关。

结论

本研究首次揭示了中国儿童中 APOC-1/rs4420638 与血清脂质水平之间的关联,为血脂异常的易感基因变异提供了证据。

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