基因多态性对青少年人群SF、sTfR水平影响的初探

发布时间：2018-04-16 01:39

  本文选题：铁 + 单核苷酸多态性　； 参考：《中国疾病预防控制中心》2013年硕士论文

【摘要】：背景基因单核苷酸多态性(SNP)与人类疾病的关系早已被人们普遍关注。在营养学领域里,人们同样发现与叶酸、α-生育酚、维生素D、维生素B12和铁等营养素代谢与生物利用相关蛋白或酶基因的单核苷酸多态性可导致对应的营养素水平出现差异。本研究依据当前研究成果,重点选取了与铁代谢相关蛋白基因rs3811647、rs7385804、rs855791、rs4820268等多态性位点进行研究,探讨该4个位点的多态性与人体铁营养状况之间的关系。 目的通过比较不同等位基因人群的SF和sTfR水平,从4个铁营养状况相关的多态性位点中筛选出高风险的等位基因。为今后人群铁营养干预工作探索新思路和新策略,同时也可以为个体了解自身铁缺乏风险,为进一步开展人群干预研究提供依据。 方法选择生活条件和营养背景基本相同的北京和浙江寄宿制学校学生为研究对象,随机抽取50个血液样本,经筛选后对其进行rs3811647、rs7385804、rs855791、rs4820268四个SNP位点的等位基因进行检测。根据基因分型结果,按照基因型别和等位基因将研究对象分组,以铁蛋白(SF)≥25ng/ml和转铁蛋白受体(sTfR)≥4.4mg/L为界值比较不同基因型别和等位基因之间SF或sTfR的差异,推测携带有相应等位基因发生铁缺乏状况的风险。 结果在本研究的48名受试者中,我们发现rs3811647、rs7385804、rs855791、rs4820268四个位点SNP分布状况如下： 1. rs3811647:AA (6,12.5%)、GG (21,43.8%)、AG (21,43.8%); 2. rs7385804:AA (3,6.3%)、CC (20,41.7%)、AC (25,52.1%); 3. rs4820268:AA (15,31.3%)、GG (12,25.0%)、 AG (21,43.8%); 4. rs855791:AA (12,25.0%)、GG (14,29.2%)、AG (22,45.8%)。 我们还发现在三个基因的四个SNPs中,仅SF在不同基因型别之间出现差异： 1.rs855791位点的GG基因型携带者(X=33.1,SD=20.2)与AG基因型携带者(X57.7,SD=28.4)之间SF水平具有统计学差异(F=3.820,P=0.029),GG基因型携带者sF水平较AG基因型携带者低；同时A等位基因携带者(X=54.0,SD=28.2)与GG纯合子(X=33.1,SD=20.2)之间,SF水平具有统计学差异(t=2.525,P=0.015),A等位基因携带者SF水平较GG纯合子高； 2.rs4820268位点AA基因型携带者(X31.3,SD=20.6)与AG基因型携带者(X=60.1,SD=26.6)之间,SF水平具有统计学差异(P=0.001),AA基因型携带者SF水平较AG基因型携带者低；同时G等位基因携带者(X=55.5,SD=27.3)与AA纯合子(X=31.3,SD=20.6)之间,SF水平具有统计学差异(t=4.047,P=0.004),G等位基因携带者SF水平较AA纯合子高,且AA纯合子与G等位基因携带者相比,其SF25ng/ml的OR值为4(95%CI1.10-14.49)。 结论携带有rs855791中G等位基因和携带有rs4820268中的A等位基因的个体,其SF水平异常的可能性较其他等位基因携带者大。rs4820268位点中AA纯合子SF水平低下的风险是G等位基因携带者的4倍。而携带有rs7385804中的A等位基因的个体,其SF水平还需进一步研究。
[Abstract]:Background single nucleotide polymorphisms (SNPs) have been widely concerned about the relationship between SNPs and human diseases.In the field of nutrition, it has also been found that single nucleotide polymorphisms in nutrients such as folic acid, 伪 -tocopherol, vitamin D, vitamin B12 and iron and bioutilization of protein or enzyme genes may lead to differences in the corresponding nutrient levels.Based on the current research results, the polymorphism loci of rs3811647hrs7385804 rs855791rs4820268 were selected to study the relationship between the polymorphism of the four loci and the status of iron nutrition in human body.Objective by comparing the levels of SF and sTfR in different alleles, high risk alleles were screened from 4 polymorphic loci related to iron nutrition status.It can explore new ideas and strategies for iron nutrition intervention in the future, at the same time, it can also provide basis for individuals to understand their own iron deficiency risk and further carry out crowd intervention research.Methods A total of 50 blood samples were randomly collected from boarding schools in Beijing and Zhejiang with similar living conditions and nutritional background. The alleles at rs3811647rs7385804 rs855791rs4820268 were detected.According to the genotyping results, the subjects were grouped according to genotype and alleles. The SF or sTfR of different genotypes and alleles were compared with ferritin SF 鈮，

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