rs762551

This is a Turkish-language personalized nutrigenetics and epigenetics coaching report for individual Mehmet Efe Yildirim (Report No. 1332, dated 2023-11-21). The report analyzes the individual's genetic polymorphisms related to nutritional metabolism, food sensitivities, detoxification pathways, and other health-related traits, providing personalized dietary and lifestyle recommendations based on cited scientific literature. This is a direct-to-consumer genetic test report, not a peer-reviewed research study.

This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.

This study examined PAH-related DNA adduct levels in 111 female never-smokers from Iran, evaluating 21 SNPs in 14 xenobiotic metabolism genes and 12 SNPs in 8 DNA repair genes. DNA adduct levels were significantly lower with NAT2 slow alleles (β=-0.24, p=0.01) and ERCC5 non-risk genotype (β=0.16, p=0.04), but higher with MPO risk alleles (β=0.21, p=0.01). The combination of phase I genes and measured NER capacity explained 17% more variation in adduct levels than environmental exposure alone (r²=0.24 vs 0.07), demonstrating the importance of genetic polymorphisms in PAH metabolism and DNA repair capacity.

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

Study of 314 German workers (218 bitumen-exposed, 96 non-exposed controls) examining how 18 SNPs in metabolizing enzyme genes modulate urinary PAH metabolites (1-OHP and OHPHE). The CYP1A1 3801T>C CC variant showed 58% higher OHPHE (P=0.051), GSTM1*1 carriers had 11% lower OHPHE (P=0.046), and NAT2*803GG showed 15-16% decrease in OHPHE (P=0.042). No SNPs reached significance for 1-OHP.

This study investigates the association of CYP1A2 genetic polymorphisms with heavy coffee consumption's effect on CYP1A2 enzyme activity in Serbian (n=64) and Swedish (n=114) populations. The key finding is that the CYP1A2 -163C>A polymorphism (rs762551) shows a significant increasing effect on CYP1A2 inducibility by heavy coffee consumption (Serbian P=0.022, Swedish P=0.016), with the highest enzyme activity in -163 A/A carriers. This polymorphism explains 22% and 14% of phenotypic variability in Serbian and Swedish heavy coffee consumers, respectively.

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.

A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.

Population-based case-control study of 1,115 women examining GST and CYP polymorphisms in relation to non-Hodgkin lymphoma risk, with stratification by smoking status. Overall NHL risk was not significantly altered by variant polymorphisms, but increased risk of DLBCL in non-smokers was associated with GSTP1 variant G allele (OR=1.6, 95% CI: 1.0-2.3) and CYP1A1 variant G allele (OR=2.4; 95% CI: 1.0-5.7), while decreased risk was observed for CYP1B1 variant G allele (OR=0.6, 95% CI: 0.4-1.0).

This is a comprehensive literature review of candidate genes and their single nucleotide variants associated with antipsychotic-induced tardive dyskinesia in schizophrenia patients. The review examined genes involved in dopamine system (DRD1, DRD2, DRD3), catecholamine metabolism (COMT), serotonin system (HTR2A, HTR2C), and other pharmacodynamic and pharmacokinetic pathways. Timely identification of genetic variants in these genes could contribute to developing diagnostic tests and selecting safer antipsychotic therapy.

A case-control study of 604 Parkinson's disease case-control pairs examining the association between coffee drinking and genetic variants in caffeine-related genes. The study found no significant association between coffee consumption (ever/never or dose-dependent) and PD risk in the overall sample or stratified analyses, and no evidence for gene-environment interactions between coffee and variants in ADORA2A (rs5751876, rs3032740) or CYP1A2 (rs35694136, rs762551), except for a borderline association with ADORA2A rs3032740 in men (OR=0.71, 95% CI: 0.52-0.96, p=0.03).

A case-control study of 2,014 Costa Rican cases with first acute nonfatal myocardial infarction and 2,014 matched controls found that coffee consumption significantly increased MI risk among carriers of the CYP1A2 *1F allele (slow caffeine metabolizers; OR=1.64, 95% CI 1.14-2.34 for ≥4 cups/day) but not among homozygous *1A/*1A rapid metabolizers (OR=0.99, 95% CI 0.66-1.48), demonstrating a significant gene×coffee interaction (P=0.04). The effect was stronger in individuals younger than the median age of 59 years.