中华血液学杂志
中華血液學雜誌
중화혈액학잡지
Chinese Journal of Hematology
2013年
10期
873-876
,共4页
徐俊卿%王婕妤%秦铁军%徐泽锋%方力维%潘丽娟%胡耐博%张宏丽%曲士强
徐俊卿%王婕妤%秦鐵軍%徐澤鋒%方力維%潘麗娟%鬍耐博%張宏麗%麯士彊
서준경%왕첩여%진철군%서택봉%방력유%반려연%호내박%장굉려%곡사강
骨髓增生异常综合征%肿瘤坏死因子α%基因多态性%疾病易感性
骨髓增生異常綜閤徵%腫瘤壞死因子α%基因多態性%疾病易感性
골수증생이상종합정%종류배사인자α%기인다태성%질병역감성
Myelodysplastic syndrome%Tumor necrosis factor-alpha%Gene polymorphisms%Disease susceptibility
目的 探讨肿瘤坏死因子α(TNF-α)编码基因单核苷酸多态性(SNP)位点-308 G＞A和-238 G＞A基因型与骨髓增生异常综合征(MDS)发生的易感性.方法 入组341例原发性MDS患者,对照组为365名与患者无血缘关系的健康志愿者.采用TaqMan探针法对研究人群TNF-α编码基因SNP位点TNF-α-308 G＞A、TNF-α-238 G＞A进行基因分型.用放射免疫法测定血清TNF-α水平.结果 与正常对照组比较,TNF-α-308 AA+AG基因型及A等位基因频率在MDS-难治性血细胞减少伴有多系发育异常(RCMD)患者中增加(18％对10％,P=0.015;9％对5％,P＝0.021).MDS患者TNF-α-308及TNF-α-238 G＞A基因型及等位基因频率和正常对照组的比较差异均无统计学意义(P值均＞0.05).MDS患者TNF-α-308 G＞A、TNF-α-238 G＞A基因型对血清TNF-α水平无明显影响.TNF-α-308 G＞AGG基因型与AA+AG基因型MDS患者的血小板计数[58(l～611)×l09/L对90(7～352)×109/L]和骨髓原始细胞比例比较差异有统计学意义(P值分别为0.024、0.019).结论 TNF-α-308 G＞A基因多态性与MDS-RCMD患者发生的易感性相关.
目的 探討腫瘤壞死因子α(TNF-α)編碼基因單覈苷痠多態性(SNP)位點-308 G＞A和-238 G＞A基因型與骨髓增生異常綜閤徵(MDS)髮生的易感性.方法 入組341例原髮性MDS患者,對照組為365名與患者無血緣關繫的健康誌願者.採用TaqMan探針法對研究人群TNF-α編碼基因SNP位點TNF-α-308 G＞A、TNF-α-238 G＞A進行基因分型.用放射免疫法測定血清TNF-α水平.結果 與正常對照組比較,TNF-α-308 AA+AG基因型及A等位基因頻率在MDS-難治性血細胞減少伴有多繫髮育異常(RCMD)患者中增加(18％對10％,P=0.015;9％對5％,P＝0.021).MDS患者TNF-α-308及TNF-α-238 G＞A基因型及等位基因頻率和正常對照組的比較差異均無統計學意義(P值均＞0.05).MDS患者TNF-α-308 G＞A、TNF-α-238 G＞A基因型對血清TNF-α水平無明顯影響.TNF-α-308 G＞AGG基因型與AA+AG基因型MDS患者的血小闆計數[58(l～611)×l09/L對90(7～352)×109/L]和骨髓原始細胞比例比較差異有統計學意義(P值分彆為0.024、0.019).結論 TNF-α-308 G＞A基因多態性與MDS-RCMD患者髮生的易感性相關.
목적 탐토종류배사인자α(TNF-α)편마기인단핵감산다태성(SNP)위점-308 G＞A화-238 G＞A기인형여골수증생이상종합정(MDS)발생적역감성.방법 입조341례원발성MDS환자,대조조위365명여환자무혈연관계적건강지원자.채용TaqMan탐침법대연구인군TNF-α편마기인SNP위점TNF-α-308 G＞A、TNF-α-238 G＞A진행기인분형.용방사면역법측정혈청TNF-α수평.결과 여정상대조조비교,TNF-α-308 AA+AG기인형급A등위기인빈솔재MDS-난치성혈세포감소반유다계발육이상(RCMD)환자중증가(18％대10％,P=0.015;9％대5％,P＝0.021).MDS환자TNF-α-308급TNF-α-238 G＞A기인형급등위기인빈솔화정상대조조적비교차이균무통계학의의(P치균＞0.05).MDS환자TNF-α-308 G＞A、TNF-α-238 G＞A기인형대혈청TNF-α수평무명현영향.TNF-α-308 G＞AGG기인형여AA+AG기인형MDS환자적혈소판계수[58(l～611)×l09/L대90(7～352)×109/L]화골수원시세포비례비교차이유통계학의의(P치분별위0.024、0.019).결론 TNF-α-308 G＞A기인다태성여MDS-RCMD환자발생적역감성상관.
Objective To investigate the association of single nucleus polymorphisms (SNP) of tumor necrosis factor alpha (TNF-α) gene (-308 G＞A and-238 G＞A genotypes) with susceptibility to primary myelodysplastic syndromes (MDS).Methods Two SNPs (TNF-α-308 G＞A、TNF-α-238 G＞A)of TNF-α gene were detected by Taqman probes in 341 MDS patients and 365 unrelated-healthy controls.Results Compared to healthy controls,the frequency of TNF-α-308 AA+AG genotype and A allele increased (18％ vs 10％,P=0.015,9％ vs 5％,P=0.021,respectively) in refractory cytopenia with multilineage dysplasia (RCMD) patients.There was no correlation of TNF-α-308 G＞A genotype and allele frequency between MDS and controls.No difference in the genotype and allele frequency of TNF-α-238 G＞A were found between controls and MDS or the subtypes of MDS (P＞0.05).We did not find any linkage between plasma level of TNF-α and TNF-α-308 G＞A or TNF-α-238 G＞A genotype.Statistic differences were observed between platelet count [58 (1-611) × 109/L vs 90 (7-352) × 109/L] and bone marrow blasts in MDS patients carrying TNF-α-308 G＞A GG and AA +AG genotype (P=0.024,0.019,respectively).Conclusion TNF-α-308 G＞A polymorphism was correlated with susceptibility to MDS-RCMD.
