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SHMT1基因启动子的rs638416位点与先天性心脏病的相关性 被引量:2
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作者 姜钰超 匡乐乐 +2 位作者 王红艳 段文元 蔡春泉 《复旦学报(医学版)》 CAS CSCD 北大核心 2016年第4期429-434,共6页
目的 通过研究丝氨酸羟甲基转移酶(serine hydroxy methyl transferase,SHMT1)基因启动子区的单核苷酸多态性(single nucleotide polymorphism,SNP)来探讨该基因与先天性心脏病 (congenital heart disease,CHD)的相关性。方法 ... 目的 通过研究丝氨酸羟甲基转移酶(serine hydroxy methyl transferase,SHMT1)基因启动子区的单核苷酸多态性(single nucleotide polymorphism,SNP)来探讨该基因与先天性心脏病 (congenital heart disease,CHD)的相关性。方法 选取来自山东省的201例CHD患儿(病例组)和192例正常儿童(对照组),采用Sanger测序法对rs638416和rs117940726两个位点的基因分型进行病例-对照研究,进一步用双荧光素酶报告基因分析其是否为功能性SNP。结果 两个SNP位点的基因型分布在病例组和对照组中均符合Hardy-Weinberg平衡;单位点分析显示rs638416位点G等位基因在病例组中分布频率显著高于对照组 (P=0.009)。经非条件Logistic回归分析确定,Log-additive模型最适用于分析rs638416,且该模型下统计学差异最显著 (OR=1.49,95%CI:1.11- 2.01,P=0.007 4);双荧光素酶报告基因分析显示带有G等位基因的启动子序列转录效率较带有C等位基因的启动子序列低36% (P=0.013)。结论 rs638416位点能影响SHMT1转录效率,并与心脏发育异常相关,提示rs638416位点G等位基因是山东人群CHD发生的遗传风险因子。 展开更多
关键词 先天性心脏病 shmt1 胸腺嘧啶合成 叶酸
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SHMTI C1420T polymorphism contributes to the risk of non-Hodgkin lymphoma: evidence from 7309 patients
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《Chinese Journal of Cancer》 SCIE CAS CSCD 2015年第12期573-582,共10页
Background Serine hydroxymethyltransferase 1 (SHMT1) is a key enzyme in the folate metabolic pathway thatplays an important role in biosynthesis by providing one carbon unit. SHMT1 C1420T may lead to the abnormalbio... Background Serine hydroxymethyltransferase 1 (SHMT1) is a key enzyme in the folate metabolic pathway thatplays an important role in biosynthesis by providing one carbon unit. SHMT1 C1420T may lead to the abnormalbiosynthesis involved in DNA synthesis and methylation, and it may eventually increase cancer susceptibility. Manyepidemiologic studies have explored the association between C1420T polymorphism and the risk of non-Hodgkinlymphoma (NHL), but the results have been contradictory.Therefore, we performed this meta-analysis to evaluate therelationship.Methods: The meta-analyses were conducted to evaluate the effect of SHMT1 C1420T polymorphism on NHL risk.Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure the strength of the association.Results: Eight studies encompassing 3232 cases and 4077 controls were included. A statistically significant associationwas found between SHMT1 C1420T polymorphism and NHL risk under the allelic comparison (T vs. C: OR = 1.09,95% Cl 1.01-1.17); a borderline association was found between SHMT1 C1420T polymorphism and NHL risk under thehomozygote model (TT vs. CC: OR = 1.18,95% Cl 1.00-1.39) and the dominant model (CT+TT vs. CC: OR = 1.10,95%Ci 1.00-1.21).Conclusion: SHMT1 C1420T polymorphism may be associated with NHL risk, which needs to be validated in large,prospective studies. 展开更多
关键词 SERINE hydroxymethyltransferase 1 (shmt1) Polymorphism NON-HODGKIN lymphoma META-ANALYSIS
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