Varikuti Sudarshan Reddy, Parasannavar Devaraj J, Rajkumar Hemalatha, Bhukya Tulja, Satyanarayana Uppala, Kumar Manoj
Clinical Epidemiology Division, Indian Council of Medical Research (ICMR) - National Institute of Nutrition, Hyderabad, IND.
Biochemistry Division, Dr. Pinnamaneni Siddhartha Institute of Medical Sciences, Vijayawada, IND.
Cureus. 2021 Dec 3;13(12):e20128. doi: 10.7759/cureus.20128. eCollection 2021 Dec.
Background and objectives Iron deficiency anemia (IDA) and the role of genetic variants in determining the iron status in adolescent girls are not yet well-understood. This study aims to investigate the association of the rs602662, rs1049296, rs1805051, rs855791, rs224589, and rs11568350 genes with IDA and iron bio-status parameters. Methods This study consisted of 132 patients (IDA group) and 110 healthy controls. The genotype was analyzed through polymerase chain reaction-restriction fragment length polymorphism. Results No differences were noted in the distribution of genotype and allele frequency single nucleotide polymorphism between the IDA and control group. In the IDA group, the GA carriers of rs602662 had a higher hemoglobin concentration (P=0.02) and packed cell volume (P=0.007), whereas transferrin saturation was increased in AA (P=0.02). The genetic variants rs1049296, rs1805051, rs224589, and rs855791 had a non-statistical significance on hematological parameters. Both the GT and TT carriers of the rs11568350 gene showed a low hemoglobin concentration (P=0.02 and <0.001) and mean corpuscular hemoglobin in GT carrier (P=0.01), whereas the TT risk of this gene showed a decreased packed cell volume (P=0.01). In the control patients, no association was observed with serum iron and hematological parameters. Conclusion Of these genetic variants, the GG and GA genotype frequency in rs602662 and the GG, GT, and TT in rs11568350 were associated with low iron status in anemic patients compared to the control patients.
背景与目的 缺铁性贫血（IDA）以及基因变异在青少年女性铁状态决定中的作用尚未得到充分理解。本研究旨在调查rs602662、rs1049296、rs1805051、rs855791、rs224589和rs11568350基因与IDA及铁生物状态参数之间的关联。方法 本研究包括132例患者（IDA组）和110例健康对照。通过聚合酶链反应-限制性片段长度多态性分析基因型。结果 IDA组与对照组之间，单核苷酸多态性的基因型和等位基因频率分布未发现差异。在IDA组中，rs602662的GA携带者血红蛋白浓度较高（P=0.02）和红细胞压积较高（P=0.007），而AA型的转铁蛋白饱和度升高（P=0.02）。基因变异rs1049296、rs1805051、rs224589和rs855791对血液学参数无统计学意义。rs11568350基因的GT和TT携带者均显示血红蛋白浓度较低（P=0.02和<0.001），GT携带者的平均红细胞血红蛋白较低（P=0.01），而该基因的TT型风险显示红细胞压积降低（P=0.01）。在对照患者中，未观察到与血清铁和血液学参数的关联。结论 在这些基因变异中，与对照患者相比，rs602662的GG和GA基因型频率以及rs11568350的GG、GT和TT基因型与贫血患者的低铁状态相关。
