Abstract
We investigated the associations between single nucleotide polymorphisms (SNPs) in the regulator of telomere elongation helicase 1 (RTEL1) gene and stroke in the Chinese population. A total of 400 stroke patients and 395 healthy participants were included in this study. Five SNPs in RTEL1 were genotyped and the association with stroke risk was analyzed. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression analysis. Multivariate logistic regression analysis was used to identify SNPs that correlated with stroke. Rs2297441 was associated with an increased risk of stroke in an allele model (odds ratio [OR] = 1.24, 95% confidence interval [95% CI] = 1.01–1.52, p = 0.043). Rs6089953 was associated with an increased risk of stroke under the genotype model ([OR] = 1.862, [CI] = 1.123–3.085, p = 0.016). Rs2297441 was associated with an increased risk of stroke in an additive model (OR = 1.234, 95% CI = 1.005, p = 0.045, Rs6089953, Rs6010620 and Rs6010621 were associated with an increased risk of stroke in the recessive model (Rs6089953:OR = 1.825, 95% CI = 1.121–2.969, p =0.01546; Rs6010620: OR = 1.64, 95% CI = 1.008–2.669, p =0.04656;Rs6010621:OR = 1.661, 95% CI = 1.014–2.722, p =0.04389). Our findings reveal a possible association between SNPs in the RTEL1 gene and stroke risk in Chinese population.
Highlights
Stroke is a major cause of death and disability worldwide as well as a major burden on public health worldwide [1]
We investigated the associations between single nucleotide polymorphisms (SNPs) in the regulator of telomere elongation helicase 1 (RTEL1) gene and stroke in the Chinese population
Our findings reveal a possible association between SNPs in the RTEL1 gene and stroke risk in Chinese population
Summary
Stroke is a major cause of death and disability worldwide as well as a major burden on public health worldwide [1]. Within the globe in 2010, roughly 10% of the 52769700 deaths and about 4% of the 2490385000 disability adjusted life years (DALYs) were due to stroke, with developing countries becoming more severe than in developed countries [2]. Stroke is projected to be the fourth most common cause of premature death and disability by the year 2020 [2]. Stroke is a multifactorial disease associated with a variety of factors. Hypertension, diabetes, obesity, smoking and advanced age were identified as risk factors for stroke [3]. Through the study of twins and family history, family inheritance is closely related with stroke [4]. Genetics as a risk factor for stroke have been confirmed, and some genetic polymorphisms such as MTHFR, ApoE [5], P-selectin and interleukin-4 gene [6] have been shown to be associated with the risk of stroke
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