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

Autor: Ying Song, Jialiang Xu, Wanru Geng, Long Yin, Jialu Wang, JiuHan Zhao
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Druh dokumentu: article
ISSN: 1750-1172
DOI: 10.1186/s13023-024-03316-5
Popis: Abstract Background Previous 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. Methods Five 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. Results Model association analyses identified two SNPs that were significantly associated with CSVD risk. LTL was significantly correlated with age (P
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