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Genetic variation and intestinal cholesterol absorption in humans: A systematic review and a gene network analysis
Progress in Lipid Research ( IF 14.0 ) Pub Date : 2022-04-04 , DOI: 10.1016/j.plipres.2022.101164
Fatma B A Mokhtar 1 , Jogchum Plat 1 , Ronald P Mensink 1
Affiliation  

Intestinal cholesterol absorption varies widely between individuals, which may translate into differences in responsiveness to cholesterol-lowering drugs or diets. Therefore, understanding the importance of genetic variation on cholesterol absorption rates and the complex intestinal cholesterol network is important. Based on a systematic review, genetic variants in seven genes (ABCG5, ABCG8, ABO, APOE, MTTP, NPC1L1, and LDLR) were identified that were associated with intestinal cholesterol absorption. No clear associations were found for variants in APOA4, APOB, CETP, CYP7A1, HMGCR, SCARB1, SLCO1B1, and SREBF1. The seven genes were used to construct an intestinal cholesterol absorption network. Finally, a network with fifteen additional genes (APOA1, APOA4, APOB, APOC2, APOC3, CETP, HSPG2, LCAT, LDLRAP1, LIPC, LRP1, OLR1, P4HB, SAR1B, and SDC1) was generated. The constructed network shows that cholesterol absorption is complex. Further studies are needed to validate and improve this network, which may ultimately lead to a better understanding of the wide inter-individual variability in intestinal cholesterol absorption and the development of personalized interventions.



中文翻译:

人类遗传变异和肠道胆固醇吸收:系统评价和基因网络分析

肠道胆固醇吸收在个体之间差异很大,这可能转化为对降胆固醇药物或饮食的反应差异。因此,了解遗传变异对胆固醇吸收率和复杂肠道胆固醇网络的重要性非常重要。根据系统评价,确定了与肠道胆固醇吸收相关的七个基因( ABCG5、ABCG8ABO、APOEMTTP、NPC1L1LDLR )的遗传变异。没有发现APOA4APOBCETP 、 CYP7A1HMGCRSCARB1SLCO1B1SREBF1。这七个基因被用来构建肠道胆固醇吸收网络。最后,生成了一个包含 15 个额外基因(APOA1APOA4APOBAPOC2APOC3CETPHSPG2LCAT、 LDLRAP1 、LIPCLRP1OLR1P4HBSAR1BSDC1)的网络构建的网络表明胆固醇吸收是复杂的。需要进一步的研究来验证和改进这个网络,这可能最终导致更好地了解肠道胆固醇吸收的广泛个体间差异和个性化干预的发展。

更新日期:2022-04-04
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