M Nair Janaki, Chakraborty Shraddha, Kasomva Khanmi, Chauhan Ganesh, Mathur Sandeep, Basu Analabha, Tandon Nikhil, Bharadwaj Dwaipayan
Systems Genomics Laboratory, School of Biotechnology, Jawaharlal Nehru University, New Delhi, 110067, India.
Department of Biochemical Engineering and Biotechnology, Indian Institute of Technology Delhi, New Delhi, 110016, India.
Eur J Clin Nutr. 2025 May 14. doi: 10.1038/s41430-025-01627-9.
Micronutrient deficiency is a global public health concern, especially among the adolescents of developing countries including India. Folate, an essential B-vitamin plays an indispensable role in various physiological processes throughout life. This is a cross-sectional study to determine prevalence of folate insufficiency among North-Indian school-going adolescents of various socio-economic backgrounds.
A total of 3129 healthy school-going adolescents from North India were selected for the study and circulatory folate levels were measured using an electrochemiluminescence assay. Relationship of circulatory folate with various biochemical and anthropometric parameters were evaluated. Genetic determinants of folate levels in the study population were explored via both genome-wide and exome-wide association studies.
Our results indicate higher prevalence (41%) of folate insufficiency in urban adolescents attending government-funded schools, with distinct relationship of folate levels, biochemical parameters, and anthropometric traits with varied socioeconomic strata. Girls exhibited a higher percentage of folate insufficiency than their male contemporaries. Results from genome-wide association study indicate significant associations of MYO1B (p = 5.13 × 10), CDH9 (p = 5.36 × 10), and PANK3 (p = 6.66 × 10) genes with folate levels in adolescents. Single variant analysis from exome-wide association analysis reaffirms the association of a previously reported variant in MTHFR gene (rs1801133; p = 1.87 × 10) along with identification of novel missense variants in KRT7 (rs2608009; p = 2.16 × 10 and rs6580870; p = 9.49 × 10) and AK9 (rs1406957; p = 4.76 × 10) genes.
Our study highlights the importance of large-scale studies on prevalence of folate insufficiency and nutrigenomic regulation of folate levels in Indian population. Implementing multifaceted measures including food fortification, dietary diversification and health education in adolescents is crucial to combat folate deficiency in developing nations like India.
微量营养素缺乏是一个全球性的公共卫生问题，在包括印度在内的发展中国家的青少年中尤为突出。叶酸是一种必需的B族维生素，在整个生命过程的各种生理过程中发挥着不可或缺的作用。这是一项横断面研究，旨在确定不同社会经济背景的北印度在校青少年中叶酸不足的患病率。
总共从北印度选取了3129名健康的在校青少年进行研究，并使用电化学发光分析法测量循环叶酸水平。评估了循环叶酸与各种生化和人体测量参数之间的关系。通过全基因组和外显子组关联研究探索了研究人群中叶酸水平的遗传决定因素。
我们的结果表明，在就读于政府资助学校的城市青少年中，叶酸不足的患病率较高（41%），叶酸水平、生化参数和人体测量特征与不同社会经济阶层之间存在明显关系。女孩叶酸不足的比例高于同龄男性。全基因组关联研究结果表明，MYO1B（p = 5.13×10）、CDH9（p = 5.36×10）和PANK3（p = 6.66×10）基因与青少年叶酸水平存在显著关联。外显子组关联分析的单变体分析再次证实了先前报道的MTHFR基因变体（rs1801133；p = 1.87×10）的关联，同时在KRT7（rs2608009；p = 2.16×10和rs6580870；p = 9.49×10）和AK9（rs1406957；p = 4.76×10）基因中鉴定出新型错义变体。
我们的研究强调了对印度人群中叶酸不足患病率和叶酸水平的营养基因组调控进行大规模研究的重要性。在青少年中实施包括食品强化、饮食多样化和健康教育在内的多方面措施对于像印度这样的发展中国家对抗叶酸缺乏至关重要。
