Elevated sdLDL level and LDLR rs688 C&gt;T mutation are independent risk factors for ischemic stroke

Chen, Yabin; Cai, Hehui; Zhang, Jianming; Su, Yongfa; Wu, Yibo; Lin, Zhenzhong; Zhang, Zhishan

doi:10.1016/j.medcli.2022.01.016

Cited by 4 publications

(5 citation statements)

References 25 publications

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“…Similar research conducted in Taiwan obese adults with FH, showed the comparable minor allele T incidence in patients (Liu, 2020). Recent research conducted in China in 2022 suggests that elevated levels of LDLs and any mutation in LDLR rs688 are correspondingly independent risk factors for the development of obesity and hypercholesterolemia (Chen, 2022). Studies suggest the pivotal inheritance of rs688 in LDLR.…”

Section: Resultsmentioning

confidence: 56%

LDLR gene variant rs688 TT genotype; genetic association with obesity in Familial Hypercholesterolemia patients

Afzal,

Altaf,

Faiz

et al. 2024

JMMG

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The predominant genetic risk factor for familial hypercholesterolemia along with obesity is LDLR allele status. These receptors maintain cellular cholesterol homeostasis. For instance, a common SNP rs688 in different populations has been reported to be associated with elevatedplasma LDL, resulting in hypercholesterolemia. The potential role of variant rs688 with obesity in FH patients was observed. This is a case-control study with 120 blood samples of clinically diagnosed obese familial hypercholesterolemia patients by physicians and 120 healthy individuals’ blood samples were recruited for the study. Genomic DNA was extracted from blood samples. By using Tetra ARMS PCR, genotyping of LDLR rs688 (C>T) exon 12 gene variation was performed. Moreover, BMI, BP, and BSL of obese FH patients were alsoobtained; a chi-square test was performed on the obtained data to evaluate the association between rs688 and obese FH patients. Genotype CC, CT, and TT frequencies reported in the obese FH patients’ group were 0.33, 0.41, and 0.25, while in healthy individuals were 0.37, 0.41, and 0.21 respectively. Chi–square values showed a significant association with BMI, BP, and BSL. It was assessed that there is a 4% increased susceptibility of FH development along with obesity in individuals with TT genotype. So, for obese familial hypercholesterolemia, the LDLR rs688 C>T gene variation can be used as a predisposing genetic marker.

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Section: Resultsmentioning

confidence: 56%

LDLR gene variant rs688 TT genotype; genetic association with obesity in Familial Hypercholesterolemia patients

Afzal,

Altaf,

Faiz

et al. 2024

JMMG

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show abstract

“…Meanwhile, in the atherosclerosis group, TG, TC, LDL‐C, and lipoprotein(a) levels in patients with CC genotype were lower versus those in those with CT + TT genotype; HDL‐C levels of patients with CT + TT genotype were lower than those of those with CC genotype. As reported, the C > T mutation of LDLR rs688 is an independent risk factor for ischemic stroke, and the detection of LDLR rs688 gene polymorphisms might lead to ischemic stroke prevention 34 . Also, previous findings indicated that LDLR rs688 TT genotype and T allele are linked to a raised susceptibility to patients with CAD.…”

Section: Discussionmentioning

confidence: 80%

“…As reported, the C > T mutation of LDLR rs688 is an independent risk factor for ischemic stroke, and the detection of LDLR rs688 gene polymorphisms might lead to ischemic stroke prevention. 34 Also, previous findings indicated that LDLR rs688 TT genotype and T allele are linked to a raised susceptibility to patients with CAD. LDLR rs688C > T gene variation can be used as a predisposing genetic marker for CAD.…”

Section: Discussionmentioning

confidence: 98%

Correlations of PCSK9 and LDLR Gene Polymorphisms and Serum PCSK9 Levels With Atherosclerosis and Lipid Metabolism in Patients on Maintenance Hemodialysis

Cui

Qiu

Kang

et al. 2023

The Journal of Clinical Pharma

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This study is aimed at investigating the correlations of PCSK9 and LDLR gene polymorphisms as well as serum PCSK9 levels with atherosclerosis and lipid metabolism in patients on maintenance hemodialysis. SNP at the E670G locus of the PCSK9 gene and the rs688 locus of the LDLR gene was analyzed by polymerase chain reaction‐restriction fragment length polymorphism. All study subjects’ blood lipid (triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL‐C), and low density lipoprotein cholesterol (LDL‐C)) concentrations and lipoprotein (a) and PCSK9 levels were measured. The differences in blood lipid levels between different genotypes of the E670G locus of the PCSK9 gene and the rs688 locus of the LDLR gene in maintenance hemodialysis patients with atherosclerosis were compared. Maintenance hemodialysis patients with atherosclerosis at the E670G locus of the PCSK9 gene AG + GG genotype had higher levels of TG, TC, LDL‐C, and lipoprotein(a) than the AA genotype, and lower levels of HDL‐C than the AA genotype. Maintenance hemodialysis patients with atherosclerosis at the rs688 locus of the LDLR gene CT + TT genotype had higher levels of TG, TC, LDL‐C, and lipoprotein(a) than the CC genotype, and lower levels of HDL‐C than the CC genotype. Serum PCSK9 contents in maintenance hemodialysis patients with atherosclerosis were positively correlated with lipid indices (TG, TC, LDL‐C, and lipoprotein(a)) and carotid ultrasound indices (intima‐media thickness and resistance index), and negatively correlated with HDL‐C, maximum systolic blood flow velocity and minimum diastolic blood flow velocity (all P < 0.05).This article is protected by copyright. All rights reserved

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“…As a functional variant, rs688 can modulate LDL-R splicing efficiency [ 35 ], and has been associated with CAD [ 36 , 37 ]. Previous studies [ [24] , [25] , [26] ] showed that T allele of LDL-R rs688 gene was significantly associated with susceptibility of ischemic stroke. In contrast, some other studies [ 21 , 35 ] demonstrated LDL-R rs688 polymorphism were lack of significance of risk of ischemic stroke.…”

Section: Discussionmentioning

confidence: 99%

“…Based on these findings, we hypothesized that polymorphisms of rs1122608 and rs688 in the LDL-R locus play a role in the development of stroke and are relevant to the risk of ischemic stroke in the Chinese population. However, with the premise of inconsistent results from previous studies, several studies have focused on the association between LDL-R gene polymorphism and ischemic stroke risk recently [ [21] , [22] , [23] , [24] , [25] , [26] , [27] ]. Li et al found that T allele of LDL-R rs688 gene was significantly associated with susceptibility of ischemic stroke [ 24 ], unlike this, other studies suggested LDL-R rs688 variant were lack of significance of risk of ischemic stroke by Lee et al [ 27 ] and Wang et al [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

The association between polymorphism of LDL-R gene and ischemic stroke risk in Chinese population: A meta-analysis

Dai,

Wang,

et al. 2024

Heliyon

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Elevated sdLDL level and LDLR rs688 C>T mutation are independent risk factors for ischemic stroke

Cited by 4 publications

References 25 publications

LDLR gene variant rs688 TT genotype; genetic association with obesity in Familial Hypercholesterolemia patients

LDLR gene variant rs688 TT genotype; genetic association with obesity in Familial Hypercholesterolemia patients

Correlations of PCSK9 and LDLR Gene Polymorphisms and Serum PCSK9 Levels With Atherosclerosis and Lipid Metabolism in Patients on Maintenance Hemodialysis

The association between polymorphism of LDL-R gene and ischemic stroke risk in Chinese population: A meta-analysis

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