Evidence map›Paper›PMID 39180127›Full record

ArticleOrphanet journal of rare diseases2024

Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis.

Ying Song, Jialiang Xu, Wanru Geng, Long Yin, Jialu Wang, JiuHan Zhao

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Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

What it found

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Ying SongDepartment of Neurology, Affiliated Hospital of Inner Mongolia Minzu University, Tongliao, Inner Mongolia Autonomous Region, 028000, China.
Jialiang XuDepartment of Cerebrovascular Disease Treatment Center, The People's Hospital of Liaoning Province, Shenyang, Liaoning Province, 110002, China.
Wanru GengDepartment of Neurology, Affiliated Hospital of Inner Mongolia Minzu University, Tongliao, Inner Mongolia Autonomous Region, 028000, China.
Long YinDepartment of Neurology, Affiliated Hospital of Inner Mongolia Minzu University, Tongliao, Inner Mongolia Autonomous Region, 028000, China.
Jialu Wang *Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, Liaoning Province, 110001, China. wangjl_cmu1h@126.com.
JiuHan Zhao *Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, Liaoning Province, 110001, China. cmu_zhaojh@126.com.ORCID 0000-0002-5248-6634

Funding

Shenyang Science and Technology Bureau, China no. 19-1124-038
6 · The paper itself

Abstract

backgroundPrevious observational studies have highlighted potential relationships between the telomerase reverse transcriptase (TERT) gene, short leukocyte telomere length (LTL), and cerebrovascular disease. However, it remains to be established as to whether TERT gene variants are associated with an elevated risk of cerebral small vessel disease (CSVD), and whether there is a causal relationship between LTL and CSVD.

methodsFive TERT single nucleotide polymorphisms (SNPs) were analyzed in 307 CSVD patients and 320 healthy controls in whom LTL values were quantified. Allele models and four genetic models were used to explore the relationship between these SNP genotypes and CSVD risk. A Mendelian randomization analysis of CSVD risk was then performed using LTL-related SNPs and the polygenic risk score (PRS) constructed from these SNPs as genetic instrumental variables to predict the causal relationship between LTL and CSVD risk.

resultsModel association analyses identified two SNPs that were significantly associated with CSVD risk. LTL was significantly correlated with age (P < 0.001), and the MR analysis revealed an association between short LTL and an elevated risk of CSVD. PRS-based genetic prediction of short LTLs was also significantly related to an elevated CSVD risk.

conclusionMultiple genetic models and MR results indicate that TERT gene SNPs may be related to an elevated risk of CSVD, and that shorter LTL may be causally linked to such CSVD risk.

Indexed as

Cerebral Small Vessel DiseasesLeukocytesMendelian Randomization AnalysisTelomeraseAgedChinaEast Asian PeopleFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideRisk FactorsTelomereTelomeraseTERT protein, humanCerebral small vessel diseasesMendelian randomizationPolymorphismTelomere lengthTERT

Identifiers

PMID39180127
PMCPMC11342532

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