A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans

Hong, Eun Pyo; Jeon, Jin Pyeong; Kim, Sung Eun; Yang, Jin Seo; Choi, Hyuk Jai; Kang, Suk Hyung; Cho, Yong Jun

doi:10.3349/ymj.2017.58.5.1006

Cited by 13 publications

(11 citation statements)

References 34 publications

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“…Non-saccular aneurysms, such as fusiform, dissection, traumatic, and infectious aneurysms, as well as familial aneurysms were excluded. Control subjects met the following criteria: 1) they underwent computed tomography or magnetic resonance angiography for headache evaluation or medical check-up; 2) had no concomitant neurological diseases, such as arteriovenous malformation, intracranial hemorrhage, or infarct; 3) had no familial history of IA or SAH in first-degree relatives; 4) had neither Parkinson’s disease (PD) or Alzheimer’s disease; and 5) were over 18 years of age [17,18]. Finally, this prospective study included radiologically confirmed IA with saccular shape ( n = 250) and 296 controls enrolled from March 2015 to May 2018 at a single institution.…”

Section: Methodsmentioning

confidence: 99%

Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population

Hong

Kim

Cho

et al. 2019

JCM

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Genome-wide association studies found genetic variations with modulatory effects for intracranial aneurysm (IA) formations in European and Japanese populations. We aimed to identify the susceptibility of single nucleotide polymorphisms (SNPs) to IA in a Korean population consisting of 250 patients, and 294 controls using the Asian-specific Axiom Precision Medicine Research Array. Twenty-nine SNPs reached a genome-wide significance threshold (5 × 10−8). The rs371331393 SNP, with a stop-gain function of ARHGAP32 (11q24.3), showed the most significant association with the risk of IA (OR = 43.57, 95% CI: 21.84–86.95; p = 9.3 × 10−27). Eight out of 29 SNPs—GBA (rs75822236), TCF24 (rs112859779), OLFML2A (rs79134766), ARHGAP32 (rs371331393), CD163L1 (rs138525217), CUL4A (rs74115822), LOC102724084 (rs75861150), and LRRC3 (rs116969723)—demonstrated sufficient statistical power greater than or equal to 0.8. Two previously reported SNPs, rs700651 (BOLL, 2q33.1) and rs6841581 (EDNRA, 4q31.22), were validated in our GWAS (Genome-wide association study). In a subsequent analysis, three SNPs showed a significant difference in expressions: the rs6741819 (RNF144A, 2p25.1) was down-regulated in the adrenal gland tissue (p = 1.5 × 10−6), the rs1052270 (TMOD1. 9q22.33) was up-regulated in the testis tissue (p = 8.6 × 10−10), and rs6841581 (EDNRA, 4q31.22) was up-regulated in both the esophagus (p = 5.2 × 10−12) and skin tissues (1.2 × 10−6). Our GWAS showed novel candidate genes with Korean-specific variations in IA formations. Large population based studies are thus warranted.

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Section: Methodsmentioning

confidence: 99%

Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population

Hong

Kim

Cho

et al. 2019

JCM

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“…Regarding the elastin gene, patients harboring the T allele of rs2856728 demonstrated a statistically significant association with IA, particularly in males (OR, 3.45 in males vs. 1.88 in females) [ 16 ]. Among the lysyl oxidase SNPs, rs2303656, rs3900446, and rs763497 increased IA risk significantly [ 11 ]. A recent GWAS revealed eight new susceptibility loci, including GBA , TCF24 , OLFML2A , ARHGAP32 , CD163L1 , CUL4A , LOC102724084 , and LRRC3 , that had statistical power over 0.8 in Korean IA patients [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

A Preliminary Study of the Association between <i>SOX17</i> Gene Variants and Intracranial Aneurysms Using Exome Sequencing

Park

Kim

Youn

et al. 2020

J Korean Neurosurg Soc

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Objective Conflicting results regarding SOX17 genes and the risk of intracranial aneurysms (IA) exist in the Korean population, although significant positive correlations were noted in genome-wide association studies in European and Japanese populations. Therefore, we aimed to investigate an association between SOX17 gene variants and IA using exome sequencing data. Methods This study included 26 age-gender matched IA patients and 26 control subjects. The SOX17 gene variants identified from whole-exome sequencing data were examined. Genetic associations to estimate odds ratio (OR) and 95% confidence interval (CI) were performed using the software EPACTS. Results The mean age of the IA and control groups were 51.0±9.3 years and 49.4±14.3 years, respectively ( p =0.623). Seven variants of SOX17 , including six single nucleotide polymorphisms and one insertion and deletion, were observed. Among these variants, rs12544958 (A>G) showed the most association with IA, but the association was not statistically significant (OR, 1.97; 95% CI, 0.81–4.74; p =0.125). Minor allele frequencies of the IA patients and controls were 0.788 and 0.653, respectively. None of the remaining variants were significantly associated with IA formation. Conclusion No significant association between SOX17 gene variants and IA were noted in the Korean population. A large-scale exome sequencing study is necessary to investigate any Korean-specific genetic susceptibility to IA.

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“…In a study of homogeneous, Korean population researchers investigated the association between IA formation and LOX gene polymorphisms. [ 17 ] Authors studied ten single-nucleotide polymorphisms (SNPs), of which three SNPs were identified which plays a significant role in the formation of IA ( P < 0.01).…”

Section: Discussionmentioning

confidence: 99%

Association of bone mineral density, Vitamin D, and serum calcium in intracranial aneurysm

Sharma

2020

Asian J Neurosurg

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Aims: The objective of this study is to understand the association between bone mineral density (BMD), serum calcium, and Vitamin D in s (IA) patients. Subjects and Methods: A total of 100 patients with IA diagnosed at the department of neurosurgery between January 2019 and December 2019 were reviewed and analyzed in this study. Computed tomography angiography was used to confirm and locate the site of aneurysms. BMD, serum calcium, and Vitamin D levels were measured. Statistical Analysis Used: Linear or logistic regression statistical models were applied to found the association between BMD and IA size. To confirm the statistical significance, P < 0.05 (twos-tailed) was considered as statistically significant. Results: Of the studied 100 patients, 61 patients were female and 39 were male. According to the age group, patients were divided into five categories: below 30, 31–40, 41–50, 51–60, and ≥60 years. The most common site of aneurysm observed to be the anterior communicating artery (Acom); 39.25% of the patients had Acom aneurysm followed by the middle cerebral artery (18.69%). This clearly shows that the occurrence of aneurysm is more prominent in anterior circulation as compared to posterior circulation. The results showed that there is a negative linear correlation between BMD and size of aneurysm ( P = 0.00043, r =−0.12). Sex-specific analysis showed that females have lower mean BMD value as compared to males (i.e., females 0.785 ± 0.13; males 0.887 ± 0.13; P = 0.0003). We also found that the multiplicity of IAs also shows an association with BMD (i.e. mean BMD: 0.825 ± 0.14, whereas BMD of patients with multiple aneurysms was 0.747 ± 0.08; P = 0.05). Of 100 patients, 66 were observed calcium deficient (normal range: 8.8–10.2 mg/dl). The obtained mean value of calcium was 8.56 ± 0.859 standard deviation (SD), i.e., below the normal range of calcium. In the case of Vitamin D, 85% of the patients were observed Vitamin D deficient, whereas 14 patients showed Vitamin D insufficiency and merely 1 patient has Vitamin D sufficiency. The mean 25-hydroxy Vitamin D level obtained in our study was 14.57 ± 5.60 (SD), which is considered as Vitamin D deficiency. Conclusions: The size and multiplicity of IA can be associated with BMD, calcium, and Vitamin D. The results from the research provide evidence of common pathophysiology between the development of IA and these factors.

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A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans

Cited by 13 publications

References 34 publications

Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population

Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population

A Preliminary Study of the Association between <i>SOX17</i> Gene Variants and Intracranial Aneurysms Using Exome Sequencing

Association of bone mineral density, Vitamin D, and serum calcium in intracranial aneurysm

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