Suppr超能文献

载脂蛋白 E 基因的 rs5498(A>G)和 rs281432(C>G)多态性与动脉粥样硬化性心血管疾病风险的关联,包括高胆固醇血症。

Associations between the rs5498 (A > G) and rs281432 (C > G) polymorphisms of the gene and atherosclerotic cardiovascular disease risk, including hypercholesterolemia.

机构信息

Department of Tropical Nutrition and Food Science, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.

Department of Tropical Hygiene, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.

出版信息

PeerJ. 2022 Mar 8;10:e12972. doi: 10.7717/peerj.12972. eCollection 2022.

Abstract

BACKGROUND

Atherosclerotic cardiovascular disease (ASCVD) originates from complex risk factors, including age, gender, dyslipidemia, obesity, race, genetic and genetic variation. gene polymorphisms are a significant risk factor for ASCVD. However, the impact of the rs5498 and rs281432 polymorphisms on the prevalence of hypercholesterolemia (HCL) has not been reported. Therefore, we determine the relationships between single nucleotide polymorphisms (SNPs), including rs5498 and rs281432 on Intercellular adhesion molecule 1 gene () and ASCVD susceptibility in patients with HCL.

METHODS

The clinical characteristics of 278 participants were assessed, and classified to groups having HCL and without HCL. SNPs genotyping was performed by DNA sequencing, and expression was measured using real-time PCR.

RESULTS

Positive dominant model rs5498 participants had twice the risk of HCL (95% confidence interval (CI): [1.24-3.23],  = 0.005). The frequency of the G allele in rs5498 was 1.69 times higher in participants with HCL than in controls (95% CI [1.15-2.47],  = 0.007). Participants with the rs5498 AG or GG variants and high mRNA expression (≥3.12) had 2.49 times the risk (95% CI [1.42-4.38],  = 0.001), and those with a high LDL-C concentration (≥3.36 mmol/L) had 2.09 times the risk (95% CI [1.19-3.66],  = 0.010) of developing ASCVD compared with those with low mRNA and LDL-C levels. Interestingly, participants carrying the rs5498 AG or GG variants who had tachycardia (resting heart rates (RHRs) >100 beats/min) had a 5.02-times higher risk than those with a lower RHR (95% CI [1.35-18.63],  = 0.016).

CONCLUSIONS

It may consider the G allele in rs5498 is associated with a higher risk of ASCVD in Thai people with HCL, and is also positively associated with mRNA expression, LDL-C concentration, and RHR.

摘要

背景

动脉粥样硬化性心血管疾病(ASCVD)源于多种复杂的危险因素,包括年龄、性别、血脂异常、肥胖、种族、遗传和遗传变异。基因多态性是 ASCVD 的一个重要危险因素。然而,rs5498 和 rs281432 基因多态性与高胆固醇血症(HCL)的患病率之间的关系尚未报道。因此,我们确定包括 rs5498 和 rs281432 在内的细胞间黏附分子 1 基因()上的单核苷酸多态性(SNPs)与 HCL 患者 ASCVD 易感性之间的关系。

方法

评估了 278 名参与者的临床特征,并将其分为 HCL 组和非 HCL 组。通过 DNA 测序进行 SNP 基因分型,实时 PCR 测量表达。

结果

阳性显性模型 rs5498 参与者发生 HCL 的风险增加了两倍(95%置信区间(CI):[1.24-3.23],=0.005)。rs5498 中的 G 等位基因在 HCL 参与者中的频率比对照组高 1.69 倍(95%CI [1.15-2.47],=0.007)。rs5498AG 或 GG 变体和高表达(≥3.12)的参与者患 ASCVD 的风险增加了 2.49 倍(95%CI [1.42-4.38],=0.001),而 LDL-C 浓度较高(≥3.36mmol/L)的参与者患 ASCVD 的风险增加了 2.09 倍(95%CI [1.19-3.66],=0.010)与低水平的和 LDL-C 相比。有趣的是,携带 rs5498AG 或 GG 变体且心动过速(静息心率(RHR)>100 次/分钟)的参与者患 ASCVD 的风险比 RHR 较低的参与者高 5.02 倍(95%CI [1.35-18.63],=0.016)。

结论

泰国 HCL 患者中 rs5498 中的 G 等位基因可能与 ASCVD 风险增加相关,并且与表达、LDL-C 浓度和 RHR 呈正相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2aed/8916030/b10c6f32c9ac/peerj-10-12972-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验