CAJ | 학술논문

目的:通过分析湖南地区强直性脊柱炎汉族患者DNA中TNF-α-238位点的多态性,研究湖南地区汉族人群中TNF-α-238位点基因多态性与强直性脊柱炎发病的相关性.方法:应用聚合酶链反应-限制性片段长度多态性法( PCR-RFLP)对患者和正常人DNA中TNF-α-238位点进行基因分型检测,采用酶联免疫吸附法(ELISA)检测100例强直性脊柱炎患者和90例正常人血清中TNF-α的水平,HLA-B27分型采用流式细胞仪检测.用统计学方法分析两组中基因型、等位基因频率、TNF-α水平、HLA-B27阳性率及其组间差异.结果:100例患者中TNF-α-238位点G/G基因型95例(95%),G/A基因型5例(5%),90例正常人中TNF-α-238位点G/G基因型88例(97.8%),G/A基因型2例(2.2%).AS组的TNF-α-238位点G频率(97.5%)低于正常对照组(98.9%),A频率(2.5%)高于对照组(1.1%);两组均未发现A/A基因型;AS组患者血清中TNF-α的平均水平比正常人明显增高[(10.16±1.19) pg/ml vs.(5.64±1.18) pg/ml],且G/A基因型患者血清中TNF-α的平均水平比G/G基因型患者高[(13.49±1.27) pg/ml vs.(9.44±1.29 pg/ml)];HLA-B27阳性率在湖南地区AS组和正常对照组中的分布差异极其显著(χ~2=114.975,P=0.000).对 HLA-B27和TNF-α-238两位点的基因分析表明,与单独HLA-B27阳性比较,TNF-α-238位点基因型为G/G时比数比(OR值)明显增加.结论:湖南地区汉族人群中TNF-α-238位点多态性与强直性脊柱炎发病可能没有相关性,但基因型为G/G时AS的患病风险可能增高.
목적:통과분석호남지구강직성척주염한족환자DNA중TNF-α-238위점적다태성,연구호남지구한족인군중TNF-α-238위점기인다태성여강직성척주염발병적상관성.방법:응용취합매련반응-한제성편단장도다태성법( PCR-RFLP)대환자화정상인DNA중TNF-α-238위점진행기인분형검측,채용매련면역흡부법(ELISA)검측100례강직성척주염환자화90례정상인혈청중TNF-α적수평,HLA-B27분형채용류식세포의검측.용통계학방법분석량조중기인형、등위기인빈솔、TNF-α수평、HLA-B27양성솔급기조간차이.결과:100례환자중TNF-α-238위점G/G기인형95례(95%),G/A기인형5례(5%),90례정상인중TNF-α-238위점G/G기인형88례(97.8%),G/A기인형2례(2.2%).AS조적TNF-α-238위점G빈솔(97.5%)저우정상대조조(98.9%),A빈솔(2.5%)고우대조조(1.1%);량조균미발현A/A기인형;AS조환자혈청중TNF-α적평균수평비정상인명현증고[(10.16±1.19) pg/ml vs.(5.64±1.18) pg/ml],차G/A기인형환자혈청중TNF-α적평균수평비G/G기인형환자고[(13.49±1.27) pg/ml vs.(9.44±1.29 pg/ml)];HLA-B27양성솔재호남지구AS조화정상대조조중적분포차이겁기현저(χ~2=114.975,P=0.000).대 HLA-B27화TNF-α-238량위점적기인분석표명,여단독HLA-B27양성비교,TNF-α-238위점기인형위G/G시비수비(OR치)명현증가.결론:호남지구한족인군중TNF-α-238위점다태성여강직성척주염발병가능몰유상관성,단기인형위G/G시AS적환병풍험가능증고.
Objective:To explore the correlations of TNF-α-238 site gene polymorphism and the onset of Ankylosing Spondylitis(AS)in Hunan Han population.Methods:100 AS samples (including serum and whole blood) were collected from the Department of Immunology and Rheumatology of the Second Xiangya hospital from May 2008 to Jan 2009 and 90 samples of normal people were collected as control group.We detected the TNF-α-238 gene polymorphism of these subjects by using PCR-RFLP technique.The TNF-α level in the serum samples were measured by ELISA and HLA-B27 antigen was detected by flow cytometry (FCM).Then all of the data was analyzed by SPSS13.0 software.Results:There were 95 cases with the TNF-α-238 G/G genotype in 100 AS patients,5 cases with the G/A genotype.While in the control group,TNF-α-238 G/G genotype and G/A genotype were 88 cases and 2 cases respectively.There was no TNF-α-238 A/A genotype in both groups.The allele frequencies of G in AS group was higher than in the control group(98.9% vs.97.5%),while the allele frequencies of A in AS group was lower than in the control group(1.1% vs.2.5%).However,there were no significant difference both A allele frequencies and G allele frequencies (P＞0.05).In addition,the average TNF-α level in AS group was higher than in the control group significantly (10.16±1.19 pg/ml vs.5.64±1.18 pg/ml).And the average TNF-α level in AS patients with the genotype of G/A was higher than that of with the G/G genotype (13.49±1.27 pg/ml vs.9.44±1.29 pg/ml).There was a very large difference of the positive ratio of HLA-B27 between two groups (χ~2=114.975,P=0.000).After gene analysis of HLA-B27and TNF-α-238,the odds ratio(OR)was higher in both G/G genotype and HLA-B27 positive than HLA-B27 lonely.Conclusion:There is probably no relationship between the gene polymorphism of TNF-α-238 site and the onset of AS but the G/G genotype of TNF-α-238 may increase the sicken risk of AS in Hunan population.