Importance of Using Epigenetic Nutrition and Supplements Based on Nutrigenetic Tests in Personalized Medicine.

BACKGROUND: Nutrigenetics explores how genetic variations influence an individual's responses to nutrients, enabling personalized nutrition. As dietary supplements gain popularity, understanding genetic factors in their metabolism and effectiveness is crucial for optimal health outcomes. This study examines the role of genetic differences in the metabolism and effects of nutraceuticals, underscoring the significance of personalized nutrition within precision health. It aims to reveal how individual genetic profiles influence responses to dietary supplements, highlighting the value of nutrigenetics in optimizing health interventions. The study explores how genetic variations affect the absorption and effects of nutraceuticals, focusing on personalized supplement choices based on nutrigenetics. METHODS: Sixteen patients from an Epigenetic Coaching clinic who were using supplements such as quercetin, curcumin, green tea, and sulforaphane and reporting side effects were studied. Their clinical outcomes were analyzed in relation to their supplement choices and genetic backgrounds. The study involved five women and 11 men, including eight with autism and others with conditions like Hashimoto's thyroiditis (HT) disease and joint pain. RESULTS: In the study, it was observed that removing sulforaphane and sulfur-rich supplements from the diet of five patients reduced agitation. Removing sulforaphane and sulfur-rich supplements from the diet of four patients reduced clinical symptoms. Green tea caused discomfort in two patients. Responses to quercetin showed clinical differences in two patients. Anxiety and hyperactivity increased in three patients who took curcumin. Conclusion This study highlights the importance of considering individual genetic profiles when recommending dietary supplements. The findings suggest that personalized nutrition, guided by nutrigenetic insights, can enhance the efficacy and safety of nutraceutical interventions. Tailoring supplement choices based on genetic information can lead to better health outcomes and reduced adverse effects, emphasizing the need for integrating genetic testing into nutritional planning and healthcare practices.

Correction: The Importance of Nutrigenetics and Microbiota in Personalized Medicine: From Phenotype to Genotype.

[This corrects the article DOI: 10.7759/cureus.61256.].

The Importance of Nutrigenetics and Microbiota in Personalized Medicine: From Phenotype to Genotype.

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.

Retinal and Choroidal Thickness in Adult Patients with Familial Mediterranean Fever.

PURPOSE: We aimed to evaluate changes in retinal, choroidal, ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL) thicknesses in genetically diagnosed adult patients with familial Mediterranean fever (FMF). METHODS: A total of 50 eyes of 50 genetically diagnosed patients with FMF and 50 eyes of controls were analyzed. Patients were recruited from the Genetic Diagnostic Center of Diskapi Yildirim Beyazit Research and Training Hospital, Turkey. Retinal and choroidal thicknesses were obtained using spectral-domain optical coherence tomography from choroid, retina, GCC, and RNFL. RESULTS: Average baseline choroidal thickness was statistically significantly thinner in patients with FMF than controls at Ccenter (325.85 ± 30.8 µm and 338.97 ± 23.9 µm, respectively, p = 0.038), Cnasal500 (328.77 ± 31.6 µm and 349.00 ± 23.3 µm, respectively, p = 0.002), Cnasal1000 (324.97 ± 33.6 µm and 351.23 ± 23.8 µm respectively, p = 0.0001) and Cnasal1500 (324.75 ± 37.1 µm and 344.61 ± 27.3 µm, respectively, p = 0.008). However, there was no significant difference in temporal choroidal thickness (Ctemporal500, Ctemporal1000 and Ctemporal1500) in patients with FMF compared to controls (p > 0.05). There were no significant differences in retinal, GCC and RNFL thicknesses between the groups (p > 0.05). CONCLUSION: We hypothesize that the chronic inflammation seen in FMF could be the reason for the reduction seen in choroidal thickness in adult patients with FMF. Retinal, GCC and RNFL thicknesses did not differ from controls.

A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.

Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. To date, 18 families with JS have been reported, 16 of which were found to have a mutation in CNNM4. We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). They demonstrated phenotypic variability in terms of ocular and dental findings. Although fundus examination and optical coherence tomography results were normal, the electroretinogram was compatible with CRD, supporting the diagnosis of JS. The dental phenotype severity also varied among the siblings.

Association Between Keratoconus and Familial Mediterranean Fever in Turkey.

PURPOSE: To evaluate the association between familial Mediterranean fever (FMF) and keratoconus (KC). METHODS: This retrospective case-control study was performed to compare the prevalence of KC in patients with FMF with the corresponding prevalence in control patients without FMF referred to Genetic Diagnostic Center at Diskapi Yildirim Beyazit Training and Research Hospital from June 2012 to June 2015. We included all 100 patients with FMF. Each FMF-affected patient was matched to 3 controls. RESULTS: None of the patients in the control group (0%, 0/300) had KC, whereas 4 of 100 patients with FMF (4%) had KC (P < 0.004). Three of 33 patients with a homozygous mutation (9.1%) (M694V/M694V in 2 cases and M680I/M680I in 1 case) and 1 of the 46 patients with a compound heterozygous mutation (2.2%) (M694V/M680I) had KC, whereas none of the 21 patients with a heterozygous mutation (0%) had KC. All patients with KC were women, and mean age was 40.8 years (range, 30-51). Although 1 of the 4 patients with KC had hypertension and type 2 diabetes mellitus, the other 3 patients did not have any systemic illness except FMF. When we compared the prevalence of KC in patients with FMF (4%) with the highest prevalence of KC reported in the literature (0.2%), FMF was a predisposing factor to develop KC [odds ratio: 18.1 (95% CI: 11.9-27.5)] especially in patients with a homozygous mutation [odds ratio: 43.4 (95% CI: 28.6-65.7)]. CONCLUSIONS: Mediterranean fever (MEFV) gene mutations, particularly in homozygous mutations of the MEFV gene, may be a predisposing factor in the development of KC.