CYP1B1 Genetic Variants (rs10916 and rs2855658) Are Associated with Increased Risk of Ischemic Stroke in Chinese Han Population

Abstract

<b><i>Introduction:</i></b> Ischemic stroke (IS) is an extremely complex disease caused by the combined action of multiple environmental and genetic factors. <i>CYP1B1</i> is a member of the cytochrome P450 protein family, and it is an important human drug-metabolizing enzymes. We aimed to explore the association between <i>CYP1B1</i> genetic variants and IS risk in Chinese Han population. <b><i>Methods:</i></b> We recruited 1,150 participants to conduct a “case-control” study. The assessment of association between candidate <i>CYP1B1</i> genetic variants (rs2855658, rs10916, rs162560, rs2567206) and IS risk was performed by SNPStats online software. In addition, false-positive report probability analysis was used to detect whether the positive findings were just chance or noteworthy observations. Finally, the interaction of candidate SNPs in IS risk was evaluated by multifactor dimensionality reduction. <b><i>Results:</i></b> The results showed that <i>CYP1B1</i>-rs2855658 was a risk factor for IS among ≥60-year-old (dominant: <i>p</i> = 0.034; overdominant: <i>p</i> = 0.026), smoking (heterozygote: <i>p</i> = 0.009; dominant: <i>p</i> = 0.004; overdominant: <i>p</i> = 0.012; log-additive: <i>p</i> = 0.003), and drinking participants (homozygous: <i>p</i> = 0.036; dominant: <i>p</i> = 0.019; recessive: <i>p</i> = 0.012; log-additive: <i>p</i> = 0.006). <i>CYP1B1</i>-rs10916 also was a risk factor for IS patients among ≥60-year-old (heterozygote: <i>p</i> = 0.047; overdominant: <i>p</i> = 0.048), smoking (dominant: <i>p</i> = 0.050; overdominant: <i>p</i> = 0.049), and drinking participants (dominant: <i>p</i> = 0.019; overdominant: <i>p</i> = 0.038; log-additive: <i>p</i> = 0.013). <b><i>Conclusion:</i></b> <i>CYP1B1</i>-rs10916 and <i>CYP1B1</i>-rs2855658 can increase the IS risk in Chinese Han population who are ≥60 years old, smoking, or drinking alcohol.

Identification and validation of cortisol‐related hub biomarkers and the related pathogenesis of biomarkers in Ischemic Stroke

“…This is an important finding, as it may help us better understand the genetic mechanisms of this disease and lead to new therapeutic strategies. (Zhang et al., 2023 ). It has been demonstrated previously that this protein has involvement in the metabolism of various endogenous substrates such as arachidonic acid in fatty acids (Mesaros et al., 2010 ), estradiol in steroid hormones (Badawi et al., 2001 ), and so on.…”

Effects of CASZ1, WNT2B and PTPRG SNPs on stroke susceptibility in the Chinese Han population

“…Some SNPs of CASZ1 have been found to be associated with stroke risk in the Chinese population. 11 Rs880315 is located in the intron region of CASZ1, which has been discovered to be associated with an increased risk of systolic hypertension in African Americans. 12 WNT2B encodes a member of the WNT family of highly conserved secreted signalling factors, and WNT family members play a role in developmental processes such as cell growth and differentiation regulation.…”

“…CASZ1 , a nuclear‐located zinc finger transcription factor expressed in mammalian cardiomyocytes, is critical for cardiomyocyte proliferation and affects the early stage of cardiac development. Some SNPs of CASZ1 have been found to be associated with stroke risk in the Chinese population 11 . Rs880315 is located in the intron region of CASZ1 , which has been discovered to be associated with an increased risk of systolic hypertension in African Americans 12 .…”