rs4646903

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 examines the role of cytochrome P450 (CYP) gene polymorphisms in the pathogenesis and development of ulcerative colitis. The authors discuss ten critical CYP isoforms (CYP1A1, CYP2D6, CYP2J2, CYP2R1, CYP3A4/3A5/3A7, CYP4F3, CYP24A1, CYP26B1, and CYP27B1) and their genetic variants associated with UC susceptibility and drug metabolism. Notable findings include CYP1A1*2A correlation with UC predisposition, CYP2D6*4 polymorphisms increasing UC risk (OR=1.56), CYP2J2 promoter polymorphism (G-50T) enrichment in UC patients, CYP24A1 variants (rs4809957, rs6068816, rs6091822, rs8124792) showing significant associations in East Asian populations, and CYP27B1 induction in UC lesions.

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.

A comprehensive meta-analysis of 50 case-control studies from the Indian subcontinent identified genetic variants modifying lung cancer risk, finding FDR-corrected associations for rs3547/XRCC1 (OR=1.83-2.72) and rs1048943/CYP1A1 (OR=2.07). The rs1048943/CYP1A1 variant showed strongest associations with adenocarcinoma (OR=3.38) and squamous cell carcinoma (OR=3.53) with significant effect modification by smoking status. Global meta-analysis confirmed rs1048943/CYP1A1 association across world populations (OR=1.22, p=0.01).

This case-control study examined the association between CYP1A1 gene polymorphisms and cervical cancer risk in 728 Chinese women (360 cases, 368 controls). The rs4646903 polymorphism showed significant association with increased cervical cancer risk (OR=1.45, 95% CI 1.20-1.95 for TC+CC vs TT genotypes). A significant SNP-SNP interaction was identified between rs4646903 and rs1048943 (P=0.0107), with subjects carrying TC/CC at rs4646903 and AG/GG at rs1048943 having the highest risk (OR=2.03, 95% CI 1.42-2.89).

Case-control study of 1,959 Lebanese subjects investigating genetic variants in inflammatory pathway genes and coronary artery disease (CAD) risk. Four variants showed significant associations: rs4769874 (ALOX5AP, OR=1.54, p=0.011), rs9579646 (ALOX5AP, OR=0.76, p=0.001), rs4646903 (CYP1A1, OR=1.68, p=0.019), and rs854560 (PON1, OR=1.36, p=0.017). A significant smoking-gene interaction was found with rs4646903 in current smokers (OR=0.52, p=0.037).

Meta-analysis of 13 case-control studies (3,489 subjects) examining CYP1A1 and CYP11A1 polymorphisms in polycystic ovary syndrome (PCOS). CYP1A1 MspI (rs4646903) showed increased PCOS risk with RR=1.47 (95% CI: 1.11-1.94, p=0.008) in Caucasians, while CYP1A1 Ile462Val (rs1048943) showed no significant association (RR=1.40, p=0.159). CYP11A1 [TTTA]n repeat polymorphism was associated with increased risk (RR=1.16, p<0.001) in Caucasian populations.

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 comprehensive review examines genetic association studies on prostate cancer, discussing GWASs that have identified over 75 variants associated with PCa risk (as of February 2016), with major susceptibility regions at 8q24, 17q12, 17q24, 10q11, and 19q13. The paper also reviews candidate gene-based approaches targeting genes involved in androgen signaling, carcinogen metabolism, DNA repair, vitamin D signaling, inflammation, angiogenesis, and cellular adhesion, as well as regulatory RNA genes.

Population-based case-control study (713 NHL cases, 1,700 controls) in Korea examining associations between drug-metabolizing gene polymorphisms and non-Hodgkin lymphoma risk. GSTP1 rs1695 AG/GG genotypes were associated with decreased NHL risk (OR=0.66-0.67), while CYP1A1 rs1048943 AG/GG genotypes were associated with increased NHL risk (OR=1.26-1.32). Smoking did not modify these associations.