TMPRSS6 和 BMP2 基因内 SNPs 与沙特阿拉伯缺铁状况的关联。
Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia.
机构信息
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Kingdom of Saudi Arabia.
Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk, Kingdom of Saudi Arabia.
出版信息
PLoS One. 2021 Nov 15;16(11):e0257895. doi: 10.1371/journal.pone.0257895. eCollection 2021.
BACKGROUND
Globally, iron-deficiency anemia (IDA) remains a major health obstacle. This health condition has been identified in 47% of pre-school students (aged 0 to 5 years), 42% of pregnant females, and 30% of non-pregnant females (aged 15 to 50 years) worldwide according to the WHO. Environmental and genetic factors play a crucial role in the development of IDA; genetic testing has revealed the association of a number of polymorphisms with iron status and serum ferritin.
AIM
The current study aims to reveal the association of TMPRSS6 rs141312 and BMP2 rs235756 with the iron status of females in Saudi Arabia.
METHODS
A cohort of 108 female university students aged 18-25 years was randomly selected to participate: 50 healthy and 58 classified as iron deficient. A 3-5 mL sample of blood was collected from each one and analyzed based on hematological and biochemical iron status followed by genotyping by PCR.
RESULTS
The genotype distribution of TMPRSS6 rs141312 was 8% (TT), 88% (TC) and 4% (CC) in the healthy group compared with 3.45% (TT), 89.66% (TC) and 6.89% (CC) in the iron-deficient group (P = 0.492), an insignificant difference in the allelic distribution. The genotype distribution of BMP2 rs235756 was 8% (TT), 90% (TC) and 2% (CC) in the healthy group compared with 3.45% (TT), 82.76% (TC) and 13.79% (CC) in iron-deficient group (P = 0.050) and was significantly associated with decreased ferritin status (P = 0.050). In addition, TMPRSS6 rs141312 is significantly (P<0.001) associated with dominant genotypes (TC+CC) and increased risk of IDA while BMP2 rs235756 is significantly (P<0.026) associated with recessive homozygote CC genotypes and increased risk of IDA.
CONCLUSION
Our finding potentially helps in the early prediction of iron deficiency in females through the genetic testing.
背景
全球范围内，缺铁性贫血（IDA）仍然是一个主要的健康障碍。根据世界卫生组织的数据，全球有 47%的学龄前儿童（0 至 5 岁）、42%的孕妇和 30%的非孕妇（15 至 50 岁）患有缺铁性贫血。环境和遗传因素在 IDA 的发展中起着至关重要的作用；基因检测揭示了许多多态性与铁状态和血清铁蛋白的关联。
目的
本研究旨在揭示 TMPRSS6 rs141312 和 BMP2 rs235756 与沙特阿拉伯女性铁状态的关系。
方法
随机选择了 108 名 18-25 岁的女大学生作为研究对象：50 名健康女性和 58 名缺铁性贫血女性。从每个人身上采集 3-5 毫升的血液样本，根据血液学和生物化学铁状态进行分析，然后通过 PCR 进行基因分型。
结果
TMPRSS6 rs141312 的基因型分布在健康组中为 8%（TT）、88%（TC）和 4%（CC），而在缺铁组中为 3.45%（TT）、89.66%（TC）和 6.89%（CC）（P=0.492），等位基因分布无显著性差异。BMP2 rs235756 的基因型分布在健康组中为 8%（TT）、90%（TC）和 2%（CC），而在缺铁组中为 3.45%（TT）、82.76%（TC）和 13.79%（CC）（P=0.050），与铁蛋白状态降低显著相关（P=0.050）。此外，TMPRSS6 rs141312 与显性基因型（TC+CC）显著相关（P<0.001），增加 IDA 的风险，而 BMP2 rs235756 与隐性纯合子 CC 基因型显著相关（P<0.026），增加 IDA 的风险。
结论
我们的发现可能有助于通过基因检测早期预测女性缺铁。
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