Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population

Abstract

Background Lumbar disc herniation (LDH) is a common spinal disease in clinical practice. Once lumbar disc herniation occurs, it seriously reduces patient's quality of life. The EYS (eyes shut homolog) was discovered in recent years and it may be related to lumbar disc herniation. So we conducted a case–control study to explore the relationship between EYS polymorphism and lumbar disc herniation risk. Methods We selected 5 single‐nucleotide polymorphisms (SNPs) of EYS gene in a case–control study with 508 cases and 508 healthy controls to evaluate the relatedness by using genetic model, haplotype, and stratification analysis. Results We found that the minor alleles of rs62413038 (OR = 1.21, 95%CI: 1.01–1.43, p = .036) and rs9450607 (OR = 1.26, 95% CI: 1.05–1.53, p = .016) were associated with an increased risk of lumbar disc herniation in the allelic model analysis. In the genotypic model analysis, rs62413038 displayed a significantly increased risk of lumbar disc herniation in log‐additive models (OR = 1.20, 95% CI: 1.01–1.43, p = .039). While the rs9450607 was also obviously associated with an increased lumbar disc herniation risk in recessive (OR = 1.98, 95% CI: 1.24–3.13, p = .004) and log‐additive models (OR = 1.27, 95% CI: 1.05–1.55, p = .014). In addition, in the haplotype analyses of the SNPs, we found that the “CGGA” haplotype of rs1482456, rs9342097, rs9450607, and rs7757884 was associated with lumbar disc herniation. (OR = 0.52, 95% CI: 0.30–0.89, p = .017). Conclusion These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation.

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

“…Recently, some EYS polymorphisms have been reported to be associated with an increased risk for lumbar disc herniation [ 73 ], a pathology known to be affected by genetic factors [ 74 ]. Considering that an increase in Notch signalling in human degenerated disc tissue has been demonstrated [ 75 ], EYS role in lumbar disk maintenance might also be related to Notch signalling.…”

RAB40C gene polymorphisms rs62030917 and rs2269556 are associated with an increased risk of lumbar disc herniation development in the Chinese Han population

“…Through gene association analysis, many genetic variations of different genes associated with LDH have been identified, such as MMP, 10,11 VDR, 12 COL 13 and EYS. 14 RAB40C is a protein‐coding gene that belongs to the RAS oncogene family. The severity of LDH is related to the severity of facet joint osteoarthritis, 15 and studies have shown that RAB40C controls the level of RACK1, which can regulate the inflammatory response in osteoarthritis 16,17 .…”

PTPN9 Genes Polymorphism as a Protect Factor in Lumbar Disc Herniation Development

“…Because LDH is often seen in adults and of course occurs in adolescents [7], understanding the relationship between LDH and genetics can give patients new preventive and therapeutic measures. The study of LDHrelated genes has laid a foundation for the interpretation of its genetics, and at the same time opened up a new world for LDH ethics research [8].…”