Meral Gulsen, Aslan Elif S, Tunaligil Verda, Burkay Neval, Alper Acar Esma Gökcen, Alp Muhammed Yunus
Molecular Biology and Genetics, Biruni University, Istanbul, TUR.
Molecular Biology and Genetics, Epigenetic Coaching, Norwich, GBR.
Cureus. 2024 May 28;16(5):e61256. doi: 10.7759/cureus.61256. eCollection 2024 May.
Background After the completion of the Human Genome Project in 2003, the impact of genetic variations among people on human health was better understood. Precision medicine, also called 4P (Predictive, Preventive, Personalized, Participatory) medicine, is used to determine personal health risks, prevent, diagnose, and treat chronic diseases, and aims to identify the phenotypic, genotypic, and environmental factors that affect individual health risks instead of applying the same approach to everyone. Methods The study was conducted with 24 patients aged between 7 and 57. The patient group was selected from individuals who had undergone genetic and microbiota testing at Epigenetic Coaching Company. The patients' age, gender, and health status were documented. Genomic analysis of buccal samples was subsequently conducted using a custom Infinium HTS iSelect microarray on an Illumina iScan instrument, and microbiota metagenome analysis was performed using an Illumina NextSeq 500 platform. This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Biruni University Molecular Biology and Genetics Ethics Committee, with the decision number 2023/78-03. Results The genotypes of 19 cases carrying genetic variants involved in the metabolism of Vitamin D, Folate, B12, and Choline were analyzed. Eight of the cases were included in our study as autism patients, eight as allergy patients, and three as autoimmune thyroiditis patients. The Vitamin D receptor (VDR) genetic variants and microbiota diversity (using the Firmicutes/Bacteroides ratio, an indicator of dysbiosis) of 11 cases (9 allergy and two autism patients) participating in the study were evaluated together. Conclusions Translating nutrigenetic and nutrigenomic research into multidisciplinary clinical practice is the most challenging aspect. It is now evident that integrating data regarding phenotype and genotype, and using nutrition, lifestyle, and supplements tailored to an individual's genetics can increase clinical success. Importantly, if we wish to adopt an epigenomic approach, we must incorporate analyses of nutrigenetics, microbiota, and personalized risk based on test results.
背景 2003 年人类基因组计划完成后，人们对个体间基因变异对人类健康的影响有了更深入的了解。精准医学，也称为 4P（预测性、预防性、个性化、参与性）医学，用于确定个人健康风险、预防、诊断和治疗慢性病，旨在识别影响个体健康风险的表型、基因型和环境因素，而不是对每个人都采用相同的方法。方法 该研究对 24 名年龄在 7 至 57 岁之间的患者进行。患者组选自在表观遗传学指导公司接受过基因和微生物群检测的个体。记录了患者的年龄、性别和健康状况。随后使用定制的 Infinium HTS iSelect 微阵列在 Illumina iScan 仪器上对颊部样本进行基因组分析，并使用 Illumina NextSeq 500 平台进行微生物群宏基因组分析。本研究按照《赫尔辛基宣言》的原则进行。获得了比鲁尼大学分子生物学和遗传学伦理委员会伦理委员会的批准，决定编号为 2023/78 - 03。结果 分析了 19 例携带参与维生素 D、叶酸、B12 和胆碱代谢的基因变异的病例的基因型。其中 8 例作为自闭症患者纳入我们的研究，8 例作为过敏患者，3 例作为自身免疫性甲状腺炎患者。对参与研究的 11 例患者（9 例过敏患者和 2 例自闭症患者）的维生素 D 受体（VDR）基因变异和微生物群多样性（使用失调指标厚壁菌门/拟杆菌门比率）进行了综合评估。结论 将营养遗传学和营养基因组学研究转化为多学科临床实践是最具挑战性的方面。现在很明显，整合表型和基因型数据，并使用根据个体遗传学定制的营养、生活方式和补充剂可以提高临床成功率。重要的是，如果我们希望采用表观基因组学方法，我们必须结合基于检测结果的营养遗传学、微生物群和个性化风险分析。
