| Background/objectiveLumbar degeneration diseases refer to the natural aging and degenerative pathophysiological process of the lumbar spine.It may cause lower limb numbness,intermittent claudication and lumbar and leg pain.LDD mainly includes lumbar spinal stenosis,degenerative lumbar spondylolisthesis,lumbar disc herniation,degenerative lumbar instability and so on.The incidence rate of LDD is 15.2%,and the incidence rate of LDD increases with age,which increasingly become a social problem.The pathogenesis of LDD remain not clear.Many factors are involved in the degeneration aging of LDD,including genetic factors and metabolic factors.The research showed that the occurrence of LDD is the result of environmental factors and genetic factors.Genetic factors play an important role in the occurrence and development of LDD.A genome-wide association analysis(GWAS)was performed on North European,and it found a correlation between single nucleotide polymorphism(SNP)in 8q24.21 area and lumbar disc herniation.The results have not been verified in other populations due to race.This study adopted a case-control study to investigate whether there is a association between single nucleotide polymorphism in 8q24.21 area and LDD in Guangxi Zhuang population.1?MethodsControl group:Selected form January 2015 to December 2016,physical examination center of the First Affiliated Hospital of Guangxi Medical University,medical history data were collected from 400 healthy controls.Normal inclusion criteria include:(1)The patients had no previous history of low back pain,accompanied or not accompanied by radiation pain in low limbs,aggravated after fatigue,not obvious relief after rest.Symptoms can be relieved after active conservative treatment,but repeat attacks affecting daily life.(2)The patients had no previous history of osteoarthritis rheumatism,rheumatoid disease,lupus erythematosus,and other connective tissue diseases.(3)The patients were mainly hospitalized for the diagnosis of traumatic fracture,tendon and vascular injury and so on.The patient information was detailed.Normal patients also need to meet the following exclusion criteria:(1)The patients had previous medical history of lumbar degenerative diseases or orthopedic diseases similar to the mechanism of lumbar degenerative diseases.(2)The patients had previous history of tumor.(3)The patients had previous history of osteoarthritis rheumatism,rheumatoid disease,lupus erythematosus,and other connective tissue diseases.(4)The patients with mental illness or behavior disorder who cannot self-evaluate.Lumbar degeneration diseases group:Selected form January 2015 to December 2016,Out-patient department and ward of the Spinal Surgery of the First Affiliated Hospital of Guangxi Medical University,medical history data were collected from 400 lumbar degeneration diseases.Case group inclusion criteria include:(1)Typical symptoms and signs of lumbar degeneration diseases.Lumbar degeneration diseases were demonstrated by MRI at T2 at extensive and significant decrease of nucleus pulposusSignal strength or nucleus pulposus low signal combined with narrowing of vertebral space.(2)The patients were at age of 15 to 90.Lumbar degeneration diseases patients also need to meet the following exclusion criteria:(1)The patients had previous history of liver and kidney diseases,cardiovascular and cerebrovascular diseases,respiratory diseases or endocrine disease.(2)The patients had previous history of autoimmune disease,tumor.(3)The patients had previous history of lumbar spondylolisthesis,lumbar infective,or other diseases.(4)The patients had previous history of lumbar disc herniation caused by acute trauma such as fall,car accident,sprain.(5)The patients with mental illness or behavior disorder who cannot self-evaluate.According to the MRI imaging characteristics,LDD patients were divided into three subgroups(subgroup 1:lumbar disc herniation;subgroup 2:lumbar spondylolisthesis;subgroup 3:lumbar spinal stenosis)to further investigate the association between 8q24.21 area and LDD susceptibility.Genomic DNA was extracted from the subjects.PCR fluorescence typing was performed at rs7816342?rs4130415?rs6651255?rs7833174 of 8q24.21 area by TaqMan probe technique.Allele frequency and genotype frequency of distribution differences of each group were compared.The expression of allele frequency and genotype frequency of rs7816342?rs4130415?rs6651255?rs7833174 in 8q24.21 area were analyzed between the case group and control group.ResultsOur results showed genotype frequency of 8q24.21 area(rs7816342)was no statistically significant between the case group and the healthy controls(allele:?~2=0.00,P=0.999,OR=1.000,95%CI:0.787-1.271;genotype:?~2=1.986,P=0.370),the results showed genotype frequency of 8q24.21 area(rs7816342)was statistically significant between the lumbar spinal stenosis(subgroup 3)and the healthy controls(allele:?~2=2.702,P=0.100,OR=1.438,95%CI=0.931-2.222;genotype:?~2=9.515,P=0.008).Our results showed genotype frequency of 8q24.21 area(rs4130415)was no statistically significant between the case group and the healthy controls(allele:?~2=0.235,P=0.628,OR=0.941,95%CI=0.782-1.207;genotype:?~2=0.807,P=0.668),the results showed genotype frequency of 8q24.21 area(rs4130415)was statistically significant between the lumbar spinal stenosis(subgroup 3)and the healthy controls(allele:?~2=0.025,P=0.873,OR=1.020,95%CI=0.799-1.302;genotype:?~2=0.573,P=0.751).Our results showed genotype frequency of 8q24.21 area(rs7833174)was no statistically significant between the case group and the healthy controls(allele:?~2=0.025,P=0.873,OR=1.020,95%CI=0.799-1.302;genotype:?~2=0.573,P=0.751)ConclusionSNPs in 8q24.21 area(rs7816342?rs4130415?rs6651255?and rs7833174)were not associated with LDD risk.SNPs in 8q24.21 area(rs7816342?rs4130415 and rs6651255)were associated with the susceptibility to lumbar spinal stenosis. |
PDF Full Text Request