Role of APOE and IL18RAP gene polymorphisms in cervical spondylotic myelopathy in Indian population

Diptiranjan, S.; Harshitha, S.M.; Sibin, M.K.; Arati, S.; Chetan, G. K.; Bhat, Dhananjaya I.

doi:10.1016/j.jocn.2019.05.017

Cited by 3 publications

(8 citation statements)

References 18 publications

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“…In the APOE gene, the ε4 allele was found to be associated with an increased risk of myelopathy in a case-control study, where the controls had cervical spondylosis without myelopathy (OR 3.50, p = 0.008) [16]. However, a study in an Indian population found the ε2 allele to be associated with increased risk of myelopathy when compared to both the ε3 and ε4 alleles (OR 4.4, p = 0.002; OR 6.69, p = 0.009) [17].…”

Section: Spinal Cord Pathologymentioning

confidence: 96%

“…In the IL18RAP gene, Diptiranhan et al (2019) found no significant effect of either the rs1420106 or rs917997 SNPs on the development of myelopathy (p > 0.05) [17].…”

Section: Spinal Cord Pathologymentioning

confidence: 99%

“…The ε4 allele of the APOE gene, an allele that is well known for its associations with both cardiovascular disease and Alzheimer's disease, was associated with both a significantly increased likelihood of DCM development (OR 3.50) [16] and a significantly greater likelihood of failing to gain post-operative improvement (AOR 8.60 no improvement) [54]. However, this effect might not be universal across ethnicities; a study in an Indian population found the ε2 allele to be associated with development of myelopathy (OR 6.69) [17].…”

Section: Spinal Cord Diseasementioning

confidence: 99%

“…Many of the studies reviewed here focused exclusively on Japanese, Chinese, or South Korean participants, and specifically OPLL. Interestingly, in the APOE gene ethnicity appears to result in conflicting genetic effects, with the ε2 allele associated with myelopathy in Indian populations and the ε4 allele associated with myelopathy in Chinese populations [16,17]. It is widely acknowledged that there is a greater prevalence of OPLL within Asian populations, and this might explain their disproportionate representation in the literature [1].…”

Section: Limitations Of Current Workmentioning

confidence: 99%

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Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Pope

Davies

Mowforth

et al. 2020

JCM

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Degenerative cervical myelopathy (DCM) is estimated to be the most common cause of adult spinal cord impairment. Evidence that is suggestive of a genetic basis to DCM has been increasing over the last decade. A systematic search was conducted in MEDLINE, EMBASE, Cochrane, and HuGENet databases from their origin up to 14th December 2019 to evaluate the role of single genes in DCM in its onset, clinical phenotype, and response to surgical intervention. The initial search yielded 914 articles, with 39 articles being identified as eligible after screening. We distinguish between those contributing to spinal column deterioration and those contributing to spinal cord deterioration in assessing the evidence of genetic contributions to DCM. Evidence regarding a total of 28 candidate genes was identified. Of these, 22 were found to have an effect on the radiological onset of spinal column disease, while 12 genes had an effect on clinical onset of spinal cord disease. Polymorphisms of eight genes were found to have an effect on the radiological severity of DCM, while three genes had an effect on clinical severity. Polymorphisms of six genes were found to have an effect on clinical response to surgery in spinal cord disease. There are clear genetic effects on the development of spinal pathology, the central nervous system (CNS) response to bony pathology, the severity of both bony and cord pathology, and the subsequent response to surgical intervention. Work to disentangle the mechanisms by which the genes that are reviewed here exert their effects, as well as improved quality of evidence across diverse populations is required for further investigating the genetic contribution to DCM.

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Section: Spinal Cord Pathologymentioning

confidence: 96%

“…In the IL18RAP gene, Diptiranhan et al (2019) found no significant effect of either the rs1420106 or rs917997 SNPs on the development of myelopathy (p > 0.05) [17].…”

Section: Spinal Cord Pathologymentioning

confidence: 99%

Section: Spinal Cord Diseasementioning

confidence: 99%

Section: Limitations Of Current Workmentioning

confidence: 99%

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Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Pope

Davies

Mowforth

et al. 2020

JCM

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“…The ε3 isoform is considered usual. Higher frequencies of specific alleles are observed in certain diseases, e.g., ε4 in Alzheimer’s disease [ 9 , 10 , 11 , 12 , 13 ]. APOE2 has cysteine in both positions, APOE3 has cysteine in 112 positions and arginine in 158 positions, and APOE4 has arginine in both positions.…”

Section: Introductionmentioning

confidence: 99%

Association of APOE Serum Levels and APOE ε2, ε3, and ε4 Alleles with Optic Neuritis

Momkute

Vilkeviciute

Gedvilaitė

et al. 2022

Genes

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Optical neuritis (ON), otherwise known as optical nerve damage, is a term used to describe various environmental and body conditions that lead to optic nerve dysfunction. Neurologists are well aware of conditions that cause optic neuropathy, such as trauma, infections, malnutrition, and various toxins. As optic neuritis is a multifactorial demyelinating or infectious process, genetic predisposition may also influence the progression of optic neuritis. This study aimed to evaluate the association of ON (with and without multiple sclerosis) with APOE alleles and APOE serum levels. We found that the APOE ε3/ε3 genotype was statistically less common in the ON group of males than in the control group (p = 0.045). Moreover, the APOE ε3/ε3 genotype had a 3.7-fold increase in the odds of ON development in males (OR = 3.698; CI: 1.503–9.095; p = 0.004). In contrast, the APOE ε3/ε4 genotype had a 4.1-fold decrease in the odds of ON development in males (OR = 0.242; CI: 0.083–0.704; p = 0.009). APOE serum levels were statistically significantly higher in the ON group than in the control group (p = 0.042). The APOE ε3/ε3 genotype may increase males’ risk of developing ON, while the ε3/ε4 genotype may reduce males’ risk of developing ON.

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Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy

Shlykov¹,

Giles²,

Kelly³

et al. 2023

Spine

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Study Design. Cohort study. Objective. We aimed to evaluate the associations of genetic and nongenetic factors with degenerative cervical myelopathy (DCM). Summary of Background Data. There is mounting evidence for an inherited predisposition for DCM, but uncertainty remains regarding specific genetic markers involved. Similarly, nongenetic factors are thought to play a role. Materials and Methods. Using diagnosis codes from hospital records linked to the UK Biobank cohort, patients with cervical spondylosis were identified followed by the identification of a subset with DCM. Nongenetic variables evaluated included age, sex, race, Townsend deprivation index, body mass index, occupational demands, osteoporosis, and smoking. Genome-wide association analyses were conducted using logistic regression adjusted for age, sex, population principal components, and follow-up. Results. A total of 851 DCM cases out of 2787 cervical spondylosis patients were identified. Several nongenetic factors were independently associated with DCM including age [odds ratio (OR)=1.11, 95% CI=1.01–1.21, P=0.024], male sex (OR=1.63, 95% CI=1.37–1.93, P<0.001), and relative socioeconomic deprivation (OR=1.03, 95% CI=1.00–1.06, P=0.030). Asian race was associated with lower DCM risk (OR=0.44, 95% CI=0.22–0.85, P=0.014). We did not identify genome-wide significant (≤5×10−8) single-nucleotide polymorphisms (SNPs) associated with DCM. The strongest genome-wide signals were at SNP rs67256809 in the intergenic region of the genes LINC02582 and FBXO15 on chromosome 18 (P=1.12×10−7) and rs577081672 in the GTPBP1 gene on chromosome 22 (P=2.9×10−7). No SNPs reported in prior DCM studies were significant after adjusting for replication attempts. Conclusions. Increasing age, male sex, and relative socioeconomic deprivation were identified as independent risk factors for DCM, whereas Asian race was inversely associated. SNPs of potential interest were identified in GTPBP1 and an intergenic region on chromosome 18, but these associations did not reach genome-wide significance. Identification of genetic and nongenetic DCM susceptibility markers may guide understanding of DCM disease processes, inform risk, guide prevention and potentially inform surgical outcomes. Level of Evidence. Prognostic level III.

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Role of APOE and IL18RAP gene polymorphisms in cervical spondylotic myelopathy in Indian population

Cited by 3 publications

References 18 publications

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Genetics of Degenerative Cervical Myelopathy: A Systematic Review and Meta-Analysis of Candidate Gene Studies

Association of APOE Serum Levels and APOE ε2, ε3, and ε4 Alleles with Optic Neuritis

Evaluation of Genetic and Nongenetic Risk Factors for Degenerative Cervical Myelopathy

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