Polymorphisms in Lysyl Oxidase Family Genes Are Associated With Intracranial Aneurysm Susceptibility in a Chinese Population

Luo, Chun; Hu, Chongyu; Li, Bingyang; Liu, Junyu; Hu, Liming; Dong, Rui; Liao, Xin; Zhou, Jilin; Xu, Lu; Liu, Songlin; Li, Yifeng; Yuan, Dejian; Jiang, Weixi; Yan, Junxia

doi:10.3389/fendo.2021.642698

Cited by 4 publications

(6 citation statements)

References 46 publications

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“…Our present study demonstrated that LOXL1 rs2165241 was associated with multiple IAs ruptures. This is different from our previous study, which did not find an association between LOXL1 and IAs susceptibility ( 14 ). This may be due to the fact that the pathobiology leading to IAs formation and its rupture are not exactly the same, causing the existing IA rupture (aSAH) is a separate process from an IA formation ( 12 ).…”

Section: Discussioncontrasting

confidence: 99%

“…In the present study, significant associations between LOX (rs1800449 and rs10519694) and single IA rupture were detected. Similar to our previous study, it was found that LOX was associated with IA susceptibility (14), but these results are inconsistent with those of a previous study by Hong et al, who conducted a case-control study with 41 ruptured and 39 unruptured IA patients in a Korean population and showed that LOX may not be a susceptibility gene for IA rupture (17). We found that population heterogeneity may be the reason for the discordance between these 2 countries, and minor allele frequency in the 2 sites was discrepant between these 2 populations.…”

Section: Discussionsupporting

confidence: 90%

“…Using whole-exome sequencing, a significant association was also found with LOXL2 in FIA patients from a Chinese population (16). Our previous research also found that LOXL2 is associated with IA (14). Similarly, our present results also demonstrated that LOXL2 is associated with IA rupture but with multiple IAs, not total IA or single IA rupture.…”

Section: Discussionsupporting

confidence: 84%

“…Although numerous studies have explored the genetic susceptibility of aSAH, there are few studies on the association between LOX family gene polymorphisms and aSAH. Our previous study found that LOX was associated with the risk of single IA, while LOX-like 2 (LOXL2) was associated with the risk of multiple IAs (14). LOXL2, which belongs to the LOX family of genes, was found to be associated with susceptibility to familial IA (FIA) in Chinese and Japanese populations (15,16); In Korea, Hong et al discovered that LOX was associated with IA formation and rupture using candidate gene association analysis (17).…”

Section: Introductionmentioning

confidence: 99%

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Lysyl oxidase family gene polymorphisms and risk of aneurysmal subarachnoid hemorrhage: a case-control study

Luo¹,

Li²,

Liu³

et al. 2022

Ann Transl Med

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Background Aneurysmal subarachnoid hemorrhage (aSAH) is a devastating disease caused by intracranial aneurysm (IA) rupture. Lysyl oxidase ( LOX ) family genes ( LOX-like [LOXL] 1-4 ) have roles in collagen cross-linking in the extracellular matrix (ECM) and may be associated with IA rupture. We aimed to explore the association between LOX polymorphisms and the risk of aSAH. Methods This case-control study included 2 cohorts: 133 single ruptured and 115 unruptured IA patients, and 65 multiple ruptured and 71 unruptured IA patients. Genotyping of 27 single nucleotide polymorphisms (SNPs) in LOX was performed. Logistic regression analysis was performed to calculate the odds ratios (ORs) and 95% confidence intervals (CIs) of the SNPs of LOX and the risk of aSAH. Results LOX rs1800449 and LOXL4 rs3793692 were positively associated with the risk of single IA rupture in the recessive model (OR =5.66, 2.06; 95% CI =1.22–26.24, 1.11–3.82, respectively) and LOX rs10519694 demonstrated a protective effect on single IA rupture (dominant model: OR =0.42, 95% CI =0.21–0.83; recessive model: OR =0.16, 95% CI =0.04–0.65; additive model: OR =0.46, 95% CI =0.28–0.78). LOXL1 rs2165241, LOXL2 rs1063582, and LOXL3 rs17010021 showed risk effects on multiple IAs rupture. LOXL3 rs17010022 showed a protective effect on multiple IAs ruptures (dominant model: OR =0.41, 95% CI =0.21–0.82; additive model: OR =0.51, 95% CI =0.30–0.85). Conclusions LOX and LOXL4 may be susceptibility genes for single IA rupture, whereas LOXL1 - 3 may have a role in susceptibility to multiple IAs ruptures in the Chinese population, suggesting that LOX family genes may be associated with aSAH.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 84%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Lysyl oxidase family gene polymorphisms and risk of aneurysmal subarachnoid hemorrhage: a case-control study

Luo¹,

Li²,

Liu³

et al. 2022

Ann Transl Med

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“…Epidemiological investigations showed that rst-degree relatives of IA patients had 7 times higher risk for the disease than the general population [8]. Some large-sample case-control studies found that genetic variants of LOX, ANGPTL6, FBLN2, NOTCH3, PCNT, ARHGEF17 genes were associated with higher risks for IAs [9,10].…”

Section: Introductionmentioning

confidence: 99%

Molecular characteristics of arteries in patients with intracranial aneurysm: integration of WES and RNA-seq

Chen

Zeng

Yan

et al. 2022

Preprint

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Genetic and vascular morphology research suggested intracranial aneurysm (IA) may not be a local artery disease. IA initiation may be correlated with the histological and molecular changes of arteries. We used whole-exome sequencing (WES) of blood and RNA sequencing (RNA-seq) of superficial temporal artery (STA) to explore the artery molecular characteristics of IA under the genetic background, and try to find the potential mechanism of the IA initiation. Fifty IA patients’ and 40 controls’ blood samples were enrolled in WES; 10 IA patients’ and 5 controls’ STA were included in RNA-seq. Bioinformatic analysis was performed. RT-qPCR was used for validation. We analyze the cell types of STA by the xCell algorithm, and conducted a correlation analysis between the endothelium and mutation genes. We identified 2118 genes via RNA-seq, and via WES 43 genes harboring 54 potential deleterious variants. Four genes (ALDH1L2, KCNJ12, SPNS2, TUBB8) had both variants and differential expressions. Xcell algorithms showed that the expression of mutation genes KCNJ12 and SPSN2 were strongly associated with decreasing endothelial cells on STA and higher IA risks. KCN12 and SPSN2 expressions have been validated by RT-qPCR. In total, we have described the artery molecular characteristics of IAs by RNA-seq and WES. A total of two gene mutations (KCNJ12 and SPSN2) were found potentially to facilitate IA initiation by decreasing EC expression in brain arteries.

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Prevalence of social isolation in the elderly: A systematic review and meta-analysis

RAN,

WEI,

YANG

et al. 2024

Geriatric Nursing

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Polymorphisms in Lysyl Oxidase Family Genes Are Associated With Intracranial Aneurysm Susceptibility in a Chinese Population

Cited by 4 publications

References 46 publications

Lysyl oxidase family gene polymorphisms and risk of aneurysmal subarachnoid hemorrhage: a case-control study

Lysyl oxidase family gene polymorphisms and risk of aneurysmal subarachnoid hemorrhage: a case-control study

Molecular characteristics of arteries in patients with intracranial aneurysm: integration of WES and RNA-seq

Prevalence of social isolation in the elderly: A systematic review and meta-analysis

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