CAJ | 학술논문

目的探索Trp2等位基因多态性与中国汉族人群椎间盘退变性疾病(DDD)的关联.方法采用"病例-对照"研究方法,对Trp2等位基因对应的的单核苷酸多态性(SNP)位点进行筛查.125例中国汉族DDD患者(DDD~+)与125例中国汉族非DDD受访者(DDD~-),其年龄、性别相匹配.提取外周血DNA,根据COL9A2基因在326位的氨基酸位置处存在两个突变位点,在NCBI基因序列数据库中确定其对应的位点SNP1(rs7533552)和SNP2(rs2077871).根据椎间盘退变程度、单节段或多节段退变、退变的节段分布,将DDD~+组为不同的亚型.用SNP分型系统-SNPstream UIT对所有样本的所选SNP位点行基因型鉴定.对检测数据分别行拟和优度χ~2检验、基于等位基因频率/基因型的关联分析.结果病例组中和对照组中,两个位点的基因型分布均符合Hardy-Weinberg平衡;病例/对照组中等位基因频率分别为:SNP1A=105(42%)/117(58%)、SNP1G=145(47%)/133(53%),SNP2C=220(88%)/30(12%)、SNP2T=224(90%)/26(10%);基因型频率分别为:SNP1AA=21(17%)/25(20%)、SNP1AG=63(50%)/67(54%),SNP1GG=41(33%)/33(36%);SNP2CC=95(76%)/100(80%)、SNP2CT=30(24%)/24(19%),SNP2GG=1(0%)/1(%1),差异均无统计学意义.进一步对候选基因与DDD~+组的不同亚型进行关联分析中,发现SNP2的基因型与椎间盘退变程度有相关性(χ~2=6.920,P=0.031).结论中国汉族人群中,Trp2等位基因的基因多态性可能是决定椎间盘退变发展与退变程度的危险因素之一.
목적 탐색Trp2등위기인다태성여중국한족인군추간반퇴변성질병(DDD)적관련.방법 채용"병례-대조"연구방법,대Trp2등위기인대응적적단핵감산다태성(SNP)위점진행사사.125례중국한족DDD환자(DDD~+)여125례중국한족비DDD수방자(DDD~-),기년령、성별상필배.제취외주혈DNA,근거COL9A2기인재326위적안기산위치처존재량개돌변위점,재NCBI기인서렬수거고중학정기대응적위점SNP1(rs7533552)화SNP2(rs2077871).근거추간반퇴변정도、단절단혹다절단퇴변、퇴변적절단분포,장DDD~+조위불동적아형.용SNP분형계통-SNPstream UIT대소유양본적소선SNP위점행기인형감정.대검측수거분별행의화우도χ~2검험、기우등위기인빈솔/기인형적관련분석.결과 병례조중화대조조중,량개위점적기인형분포균부합Hardy-Weinberg평형;병례/대조조중등위기인빈솔분별위:SNP1A=105(42%)/117(58%)、SNP1G=145(47%)/133(53%),SNP2C=220(88%)/30(12%)、SNP2T=224(90%)/26(10%);기인형빈솔분별위:SNP1AA=21(17%)/25(20%)、SNP1AG=63(50%)/67(54%),SNP1GG=41(33%)/33(36%);SNP2CC=95(76%)/100(80%)、SNP2CT=30(24%)/24(19%),SNP2GG=1(0%)/1(%1),차이균무통계학의의.진일보대후선기인여DDD~+조적불동아형진행관련분석중,발현SNP2적기인형여추간반퇴변정도유상관성(χ~2=6.920,P=0.031).결론 중국한족인군중,Trp2등위기인적기인다태성가능시결정추간반퇴변발전여퇴변정도적위험인소지일.
Objective To investigate the association between Trp2 allele polymorphism with degenerative disc disease (DDD) in a Chinese Han population. Methods A total of 125 DDD patients (58 males and 67 females, 51. 8±7. 6 years old), and 125 controls matched in sex and age (63 males and 62 females, 45. 3±8.3 years old) were recruited in the case-control study. Their peripheral blood samples were collected for DNA isolation. Based on NCBI genebank, the corresponding single nucleotide polymorphisms (snp)-SNP1 (rs7533552) and SNP2 (rs2077871) were identified. Hardy-Weinberg equilibrium was analyzed both in case and control groups. Then the case group was classified into different clinical phenotypes according to severity of degeneration, sole or multi-disc degeneration and different affected discs. Genotying of all selected SNPs was performed by SNP stream technology. The association analysis between phenotypes and SNPs was conducted. Pairwise linkage disequilibrium was calculated in control population using Haploview 4.0 software. Results SNP1 (rs7533552) , SNP2 (rs2077871) and corresponding SNP of Trp2 allele were gentyped and both polymorphisms distributed in line with Hardy-Weinberg equilibrium in case and control groups. Alleleic frequency of SNP1A, SNP1G, SNP2C and SNP2T (42% , 47% , 88% and 90% respectively) of case group were not significantly different from those of control group (48% , 53% , 88% and 10% respectively, all P>0.05). Genotypic frequencies of SNP1AA, SNP1AG, SNP1GG, SNP2CC, SNP2CT and SNP2TT in case group were not significantly different from those of control group (all P >0.05). However there was an association with genotypic frequencies of SNP2 and severity of disc degeneration (χ~2 = 6. 920, P = 0. 031). Conclusion Trp2 allele is one of risk factors for the development and severity of DDD in a Chinese Han population.