A SNP in the 5′UTR of GDF5 is associated with susceptibility to symptomatic lumbar disc herniation in the Chinese Han population

Mu, Jihong; Ge, Weiming; Zuo, Xianbo; Chen, Yuxuan; Huang, Chang-lin

doi:10.1007/s00586-013-3059-z

Cited by 19 publications

(14 citation statements)

References 26 publications

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“…LDH is considered to be a disease caused by the multifactorial interactions (Lin et al, 2013;Mu, Ge, Zuo, Chen, & Huang, 2014). To better understand the complex pathogenesis of LDH, we explore the association of GPC6 polymorphisms with LDH risk in the Han Chinese population for the first time.…”

Section: Discussionmentioning

confidence: 99%

Association of glypican‐6 polymorphisms with lumbar disk herniation risk in the Han Chinese population

et al. 2019

Molec Gen & Gen Med

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Background Lumbar disk herniation (LDH) is a degenerative disorder, which partly results from complex genetic factors. The aim of the study was to investigate the potential associations between glypican‐6 ( GPC6 ) variants and LDH risk in Han Chinese population. Methods A total of 508 Han Chinese LDH patients and 508 healthy controls were recruited in this study. Six single‐nucleotide polymorphisms (SNPs) in GPC6 were selected and genotyped using an Agena MassARRAY platform. We used logistic regression method to evaluate the linkage between GPC6 variants and LDH risk by calculating the odds ratio (OR) and 95% confidence intervals (CIs) in multiple genetic models. HaploReg database was used for SNP functional annotation. Results Our result revealed GPC6 rs4773724 was associated with a decreased risk of LDH in allele model (OR = 0.82, 95% CI: 0.68–0.98, p = 0.026), whereas rs1008993 increased the LDH risk (OR = 1.34, 95% CI: 1.05–1.71, p = 0.020). Besides, we also found rs4773724 and rs9523981 were associated with susceptibility of LDH among individuals whose age are less than 45. And rs1008993 was associated with increased LDH risk in males. Furthermore, Haplotype analysis showed that the TT (rs4773724, rs1008993) haplotype and GC (rs4773724, rs1008993) haplotype had the opposite effects on the susceptibility of LDH. Conclusions For the first time, we suggest that rs4773724 and rs1008993 in GPC6 were considered as a protective factor and a risk factor for LDH in Han Chinese population, respectively. These results provide new ideas for the treatment and prevention of LDH in Han Chinese population.

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Section: Discussionmentioning

confidence: 99%

Association of glypican‐6 polymorphisms with lumbar disk herniation risk in the Han Chinese population

et al. 2019

Molec Gen & Gen Med

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“…A single point mutation of a nucleotide may affect many regulatory steps involved in protein synthesis. From previous studies, SNPs in the 5'-UTR have been found to cause some diseases, such as the GDF5 gene associated with osteoarthritis (Mu et al, 2014) and the HOPX gene related to syncope in hypertrophic cardiomyopathy patients (Gulec et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Genetic variant screening of MC3R and MC4R genes in early-onset obese children and their relatives among a Thai population: family-based study

et al. 2015

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ABSTRACT. MC3R (melanocortin-3 receptor) and MC4R (melanocortin-4 receptor) play important roles in energy homeostasis. Severe early-onset obesity, known as monogenic obesity when it is the consequence of a mutation in a single-gene product, may result when energy homeostasis is disrupted. The purpose of our study was to screen for variations of the MC3R and MC4R genes and observe the mode of inheritance of variations in affected families. We used polymerase chain reaction and direct sequencing to analyze the 11 early-onset obese children (probands) with their 71 family members, together with DNA from 100 healthy subjects used as controls. No novel mutations were found in the MC3R gene. Two previously described polymorphisms, rs3746619 and rs3827103, were detected in the MC3R gene. It was not associated with any obesity-related phenotypes. Three heterozygous variations of the MC4R gene were detected in 3 of 11 probands. The rs34114122 and rs61741819 variations have previously been reported, but rs182455344 was novel. Moreover, each MC4R variant was also found in a number of family members, indicating that this molecular analysis of a family-based study showed an autosomal dominant pattern. Our study indicated that MC4R variations in early-onset obese Thai children were found, and transmission of these variations in each family is in the dominant pattern. These variants could possibly contribute to a genetic influence of early-onset obesity in Thais. There is no evidence of any association between MC3R variations and obesity.

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“…In terms of current research, trauma, environmental and genetic factors are considered to be the main causes of disease. However the precise etiology and pathogenesis underlying of LDH are complex and still poorly understood (Mu, Ge, Zuo, Chen, & Huang, ).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

Molec Gen & Gen Med

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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.

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A SNP in the 5′UTR of GDF5 is associated with susceptibility to symptomatic lumbar disc herniation in the Chinese Han population

Abstract: Our results suggested that the GDF5 polymorphism is associated with a susceptibility to symptomatic lumbar disc herniation in the Chinese Han population and type II collagen in the nucleus pulposus may be a key factor in susceptibility to symptomatic lumbar disc herniation.

Cited by 19 publications

References 26 publications

Association of glypican‐6 polymorphisms with lumbar disk herniation risk in the Han Chinese population

Association of glypican‐6 polymorphisms with lumbar disk herniation risk in the Han Chinese population

Genetic variant screening of MC3R and MC4R genes in early-onset obese children and their relatives among a Thai population: family-based study

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

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