rs4880

Post-hoc analysis of 34 mechanically ventilated sepsis patients examining the interaction between MnSOD (rs4880) and GPx1 (rs1050450) genotypes and enteral nutrition exposure on oxidative stress and ICU mortality. Patients carrying both at-risk alleles (Risk Group, 32.3% prevalence) showed higher oxidative stress and a trend toward increased mortality with high calorie exposure (50% mortality vs 20% with lower exposure), while the Non-Risk Group showed the opposite pattern (28.6% vs 44.4% mortality).

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Two-stage genetic study examining 28 SNPs in oxidative stress genes (SOD1, SOD2, SOD3, PON1, PON2, PON3) in relation to nonsyndromic cleft lip with or without cleft palate (NSCL/CP) in Brazilian population. Initial transmission disequilibrium test (TDT) on 325 trios identified gene-gene interactions, which were validated in case-control analysis (722 cases, 866 controls). PON1 rs2237583 C allele showed protective effect (OR=0.79, 95% CI 0.67-0.93, p=0.005), and multiple significant PON1-PON2-PON3 gene-gene interactions were detected after Bonferroni correction.

This study examines the association between the SOD2 Ala16Val polymorphism (rs4880) and preeclampsia in a cohort of mother-father-infant triads. The researchers investigated whether this mitochondrial antioxidant enzyme variant is associated with preeclampsia risk, contributing to understanding of genetic factors in this pregnancy complication.

This international doctoral thesis examined gene-physical activity interactions in fibromyalgia through six studies analyzing 64 SNPs across 34 candidate genes in Spanish women. The case-control study (314 fibromyalgia cases vs. 112 controls) identified associations of rs841 (GCH1), rs1799971 (OPRM1), and rs2097903 (COMT) with fibromyalgia susceptibility (p=0.04, p=0.02, and p=0.04 respectively). Cross-sectional studies (n=274-276 fibromyalgia patients) found that SCN9A rs4453709 and other genetic polymorphisms interacted with physical activity to influence pain, fatigue, and resilience outcomes.

This candidate gene study examined 73 SNPs in 10 selenoprotein and antioxidant genes among 568 men with non-metastatic prostate cancer treated with radical prostatectomy. Plasma selenium was not associated with high-grade prostate cancer or recurrence. Less common alleles of rs11913319 (TXNRD2, OR=2.01) and rs125701 (OGG1, OR=1.72) were associated with increased risk of high-grade prostate cancer. Multiple SNPs in TXNRD1, TXNRD2, GPX3, and SEP15 showed associations with prostate cancer recurrence, though none remained significant after Bonferroni correction.

A case-control association study of 71 pediatric medulloblastoma patients found that the SOD2 rs4880 C-allele (Val158Met) was significantly associated with cisplatin-related ototoxicity (OR = 3.06, 95% CI: 1.30-7.20, FDR q = 0.040). The Ala variant conferred 46% ototoxicity risk in C-allele carriers versus 15% in non-carriers, with predicted probabilities of 10.8% (TT), 39.4% (TC), and 54.2% (CC). Two additional SOD2 variants (rs5746136, rs2758331) showed suggestive associations.

A case-control study of 200 malaria patients (100 P. vivax, 100 P. falciparum) and 150 healthy controls examined associations between polymorphisms in antioxidant enzyme genes and malaria susceptibility. GSTM1 deletion showed significant association with complicated P. vivax malaria (p=0.0007, OR=3.8, 95% CI 1.9-7.4). Polymorphisms in GSTP1 (rs1695), SOD1 (rs2234694), SOD2 (rs4880, rs1141718), SOD3 (rs2536512), and CAT (rs1001179) genes were also associated with malaria susceptibility, with SNP-SNP interactions identified through multifactor dimensionality reduction analysis.

Genetic polymorphisms in oxidative stress-related genes were associated with treatment outcomes in aggressive B-cell non-Hodgkin lymphoma. In discovery (n=337) and validation (n=572) cohorts, rare homozygotes for MPO rs2243828 (HR=1.87, P=0.013) and AKR1C3 rs10508293 (HR=2.09, P=0.0032) were associated with increased risk of progression, while NCF4 rs1883112 rare homozygotes showed protective effects against progression (HR=0.66, P=0.06 discovery; HR=0.66, P=0.05 validation). Meta-analysis confirmed NCF4 association with improved survival outcomes (HR=0.66, P<0.01).

A case-control study of 244 urinary bladder cancer patients and 365 controls examining polymorphisms in NRF2 and five antioxidant genes (GSTM1, GSTT1, GSTA1, GSTP1, SOD2). GSTM1 null genotype was significantly associated with increased BC risk (OR 1.85, 95% CI 1.30-2.62, p=0.001), while GSTT1 null showed protective effects. Significant gene-gene interactions were identified, particularly the GSTP1×GSTT1×SOD2 variant combination (OR 0.22, 95% CI 0.09-0.56, p=0.001).

This comprehensive review examines the genetic background of nonalcoholic fatty liver disease (NAFLD), focusing on variants identified by genome-wide association studies (GWAS) and candidate gene studies. The most significant GWAS-identified variants are PNPLA3 rs738409 (I148M), which strongly associates with increased liver steatosis, fibrosis severity, and HCC risk (12-fold increased risk for homozygous carriers), and TM6SF2 rs58542926 (E167K), which increases NASH progression but reduces cardiovascular risk. The review also discusses numerous candidate genes involved in lipid and glucose metabolism and liver injury mechanisms.

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.

A nested case-control study of 1,352 prostate cancer cases and 1,382 controls from the Physicians' Health Study examined associations between SEPP1 genetic variants and prostate cancer risk and survival. Two SNPs were significantly associated with prostate cancer risk: rs11959466 (OR=1.31 per T allele, p=0.03) and rs13168440 (OR=0.56 for rare homozygote, p=0.03), with a significant interaction between rs13168440 and plasma selenium levels.

A retrospective candidate gene association study of 136 lung cancer patients found that the MTHFR 1298A>C polymorphism (rs1801131) was associated with reduced risk of grade ≥2 radiation pneumonitis after thoracic radiation therapy (adjusted hazard ratio 0.37, 95% CI: 0.18-0.76, p=0.006). The SOD2 polymorphism (rs4880) and another MTHFR variant (rs1801133) showed no significant association with radiation pneumonitis risk.

Case-control study of 324 Japanese male workers examining genetic polymorphisms in xenobiotic-metabolizing enzymes (CYP2E1, NAT2, GSTM1, GSTT1, GSTP1, ALDH2, SOD2) and their association with multiple chemical sensitivity (MCS). SOD2 Val16Ala polymorphism (rs4880) showed significant association with high chemical sensitivity, with adjusted OR of 4.30 (95% CI 1.23-15.03) for Ala/Ala and Val/Ala genotypes versus Val/Val, and adjusted OR of 4.53 (95% CI 1.52-13.51) in additive genetic model analysis.

Meta-analysis of 17 case-control studies (31 outcomes) examining the C47T (rs4880) polymorphism in SOD2 gene and diabetes risk. After HWE-filtering, the C allele showed protective effects on diabetic microvascular complications (OR=0.788-0.828), diabetic nephropathy (OR=0.801), and diabetic retinopathy (OR=0.548-0.651) across dominant, recessive, and codominant models. No significant association was found with diabetes mellitus itself after HWE correction.

A systematic review and meta-analysis of SNP associations with hepatocellular carcinoma (HCC) identified six SNPs in five genes with overall statistical significance. Two SNPs passed reliability criteria: rs1800562 (HFE, Cys282Tyr) with a recessive model OR of 5.20 (95% CI: 2.69-10.08) across 9 studies, and rs2279744 (MDM2) with an allele contrast OR of 1.57 (95% CI: 1.36-1.80) across 5 studies. Both were classified as having moderate epidemiological evidence by Venice guidelines.

Comprehensive review of genetic background in nonalcoholic fatty liver disease (NAFLD). The PNPLA3 I148M variant (rs738409 C>G) is identified as a major genetic player strongly associated with increased liver fat content, NASH development, fibrosis severity, and HCC risk. The TM6SF2 E167K variant (rs58542926) emerges as another key contributor to NAFLD pathogenesis and disease progression. Multiple additional GWAS-identified variants and candidate genes are reviewed for their roles in NAFLD susceptibility and progression.

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 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 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 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.

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

This doctoral thesis conducted multiple candidate gene association studies in 274-426 southern Spanish women with fibromyalgia to investigate gene-physical activity/sedentary behavior interactions with pain, fatigue, and resilience. Study III identified rs841 (GCH1) GG genotype (OR=0.61, p=0.04) and rs2097903 (COMT) AT/TT genotypes (OR=1.66, p=0.04) associated with fibromyalgia susceptibility, and confirmed rs1799971 (OPRM1) GG genotype (OR=0.58, p=0.02) confers genetic risk. Study IV found rs6311/rs6313 (HTR2A) polymorphisms individually associated with algometer pain score, and gene-sedentary behavior interactions involving rs4680/rs165599 (COMT), rs1383914 (ADRA1A), rs12994338/rs4453709 (SCN9A), and rs6860 (CHMP1A) significantly associated with pain outcomes. SCN9A emerged as most robust gene for fibromyalgia phenotype.