调控铁调素表达的HjV-BMPs-SMADs通路中基因多态性与中国12-18岁青少年贫血的相关性研究

Association of genetic polymorphisms in HjV-BMPs-SMADs pathway of hepcidin regulation with the incidence of anemia in Chinese adolescent aged 12-18 years old

目的探讨调控铁调素表达的Hj V-BMPs-SMADs通路中基因多态性与中国12-18岁青少年人群贫血的关联性。方法采用整群随机抽样的方法,在四川省成都市、吉林省白城市、广东省肇庆市、贵州省普定县、山东省汶上县、浙江省松阳县共选取657名12～18岁初中一年级寄宿制学生,使用氰化高铁法对其静脉血血红蛋白（Hb）浓度进行检测,并依据《人群贫血筛查方法》对样本进行分类。使用磁珠法提取血液样本中的DNA,经Sequenom Mass Array系统对样本进行29个目标位点的基因多态性检测。将Hb检测分类结果与基因位点分型结果进行卡方检验和t检验,分析该通路中基因多态性与Hb浓度与贫血状况的关系。结果 rs173107的TT纯合子携带人群的贫血风险是GG纯合子携带人群的5.80倍（P〈0.05,OR=5.80,95%CI 1.34～25.04）,Hb浓度分别为（143.7±14.6）和（145.6±12.0）g/L。rs855791的AG杂合子携带人群贫血发生风险是AA纯合子携带人群的4.00倍（P〈0.05,OR=4.00,95%CI 1.35～11.82）,Hb浓度分别为（144.2±14.8）和（145.8±12.0）g/L。G等位基因型携带人群贫血风险是AA纯合子携带人群的3.68倍（P〈0.05,OR=3.68,95%CI 1.27～10.66）,Hb浓度分别为（144.3±14.4）和（145.8±12.0）g/L。两个阳性位点各基因型之间的Hb水平差异均无统计学意义,但可以观察到rs173107的TT纯合子和rs855791的G等位基因携带人群的Hb浓度均低于其他相应基因型组别的Hb浓度。结论 Hj V-BMPs-SMADs通路上的rs173107和rs855791与中国青少年人群贫血之间存在关联。

Objective To investigate the associations of the genetic polymorphisms in Hj V-BMPs-SMADs pathway of hepcidin regulation with the incidence of anemia in Chineseadolescent. Methods 657 boarding school students aged 12- 18 were recruited by using cluster random sampling method from Chengdu Sichuan Province, Baicheng Jilin Province,Zhaoqing Guangdong Province,Puding Guizhou Province,Wenshang Shandong Province and Songyang Zhejiang Province. Cyanomethemoglobin determination test was used to measured the concentration of Hb,and then the subjects were classified by＂Method for anemia screen ＂ into corresponding groups. Magnetic beads for DNA extraction was selected,and 29 variants were genotyped by conducted by Sequenom Mass Array. The Hb levels and anemia in different groups were compared with the genotype of each locus by chi-square test and t test aimed to study the associations between them. Results The risk of homozygote of T on rs173107 to anemia was 5. 80 times higher than homozygote of G（ P〈0. 05, OR = 5. 80,95% CI 1. 34- 25. 04）, and the concentrations of Hb were（ 143. 7 ± 14. 6） g/L and（ 145. 6 ± 12. 0） g/L,respectively.The risk of heterozygote on rs855791 to anemia was 4. 00 times higher than homozygote of A（ P〈0. 05,OR = 4. 00,95% CI 1. 35- 11. 82）,and the concentrations of Hb were（ 144. 2 ± 14. 8） g /L and 145. 8 ± 12. 0g /L,respectively. The risk of G allele carriers was3. 68 times higher than homozygote of A（ P〈0. 05,OR = 3. 68,95% CI 1. 27- 10. 66）,and the concentrations of Hb were（ 144. 3 ± 14. 4） g/L and（ 145. 8 ± 12. 0） g/L,respectively. The levels of Hb among groups of the two loci were shown no different（ P〈0. 05）,but the lowering trends were observed in the homozygote of T on rs173107 and G allele carriers on rs855791 groups. Conclusion Variants rs173107 and rs855791 in Hj VBMPs-SMADs pathway are associate with anemia in Chinese adolescent.