Polymorphism in the Hypoxia-Inducible Factor 1alpha Gene May Confer Susceptibility to LDD in Chinese Cohort

Lin, Wenping; Wang, Xuejin; Wang, Cong-Ren; Lq, Zhang; Li, Neng; Wang, Fa-Sheng; Lin, Jianhua

doi:10.1371/journal.pone.0073158

Cited by 17 publications

(13 citation statements)

References 32 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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“…Other genes (ADH2 49) , GCH1 68) , COMT 67,78) , HAPLN1 70) , Caspase 9 71,84) , GDF5 72) , FAS 73) , FASL 73) , BCL-2 77) , DR4 79) , PARK 2 80) , VEGF 87) , eNOS 87) , HIF-1α 88) , ADAMTS4 105) , ADAMTS5 92) , ADIPOQ 95) , and TRAIL 100,101) ) There are several genes whose genetic polymorphisms are associated with LDDs. The information is very important and interesting.…”

Section: Kiaa1217 (Skt)unclassified

Genetic background of degenerative disc disease in the lumbar spine

Kawaguchi

2018

Spine Surg Relat Res

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Abstract:This is a review paper on the topic of genetic background of degenerative disc diseases in the lumbar spine. Lumbar disc diseases (LDDs), such as lumbar disc degeneration and lumbar disc herniation, are the main cause of low back pain. There are a lot of studies that tried to identify the causes of LDDs. The causes have been categorized into environmental factors and genetic factors. Recent studies revealed that LDDs are mainly caused by genetic factors. Numerous studies have been carried out using the genetic approach for LDDs. The history of these studies is divided into three periods: (1) era of epidemiological research using familial background and twins, (2) era of genomic research using DNA polymorphisms to identify susceptible genes for LDDs, and (3) era of functional research to determine how the genes cause LDDs. This review article was undertaken to present the history of genetic approach to LDDs and to discuss the current issues and future perspectives.

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“…Because the cardiovascular system subsequently influences human body performance, HIF1A variations have been associated with the following performance related phenotypes: maximal oxygen consumption, adaptation to living at high altitude, lumbar disc degeneration, idiopathic osteonecrosis of the femoral head, power‐oriented athlete performance and muscle activity, endurance status, and symptom‐limited exercise test duration over time (rs113182457, rs10873142, rs11549465, rs11549467, rs1535679, rs1957757 and rs1957755, rs2057482, and rs28708675). Some polymorphisms were also associated with other phenotypes such as systemic sclerosis (rs12434438), acute kidney injury (rs11549465), cellulite (rs11549465), and chronic obstructive pulmonary disease (rs11549465).…”

Section: Hif1a and Association With Other Phenotypes And Diseasesmentioning

confidence: 99%

HIF1A gene polymorphisms and human diseases: Graphical review of 97 association studies

Gladek

Ferdin

Horvat

et al. 2017

Genes Chromosomes & Cancer

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Hypoxia-inducible factors (HIFs) belong to a family of transcription factors (TF) responsive to a low O2 availability, which is often a characteristic feature of solid tumors. The alpha subunit of the HIF heterodimer is O2-sensitive, and once stabilized in hypoxia, it functions as a master regulator of various genes involved in hypoxia pathway. Changes in the HIF1A (hypoxia inducible factor 1, alpha subunit) nucleotide sequence or expression has been shown to be associated with development of several diseases. Due to increasing research interest in HIF1A gene a review of association studies was needed. We here reviewed published data on single nucleotide polymorphisms (SNPs) in HIF1A in various diseases; in total, 34 SNPs were tested for an association with 49 phenotypes, and the results were visualized using the Cytoscape software. Among all collected polymorphisms 16 SNPs showed significant associations with 40 different phenotypes, including six SNPs associated with 14 cancer types. Missense SNPs (rs11549465 and rs11549467) within the oxygen-dependent degradation domain were most frequently studied. The study provides a comprehensive tool for researchers working in this area and may contribute to more accurate disease diagnosis and identification of therapeutic targets.

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Polymorphism in the Hypoxia-Inducible Factor 1alpha Gene May Confer Susceptibility to LDD in Chinese Cohort

Cited by 17 publications

References 32 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 background of degenerative disc disease in the lumbar spine

HIF1A gene polymorphisms and human diseases: Graphical review of 97 association studies

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