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Recent data have revealed that genetic variation could be attributed to overdominance, or heterozygote advantage. However, genomic survey showed that only a small number of genes that have polymorphisms maintained by overdominance which is consistent with many published papers. Google Web, Google scholar, NCBI Databases and OMIC Tools were used to obtain data for this review paper. Different key words were used to retrieve the required research articles and bioinformatics-based information, such as “overdominance’’ and “overdominance in animals’’. Research papers used for this review were published over the last 10 to 15 years and information regarding overdominance in livestock was considered for current review. It is hoped that in the future, more loci with overdominance will be discovered. In this review, we will illustrate eight examples of overdominance in livestock. We also want to emphasize that given a low number of reported cases in overdominance, it does not reflect the unimportance of heterozygote advantage in adaptive functions. [ABSTRACT FROM AUTHOR]

The goal of this paper is to examine how the development of attention networks has left many important issues unsolved and to propose possible directions for solving them by combining human and animal studies. The paper starts with evidence from citation mapping that indicates attention has played a central role in integrating cognitive and neural studies into Cognitive Neuroscience. The integration of the fields depends in part upon similarities and differences in performance over a wide variety of animals. In the case of exogenous orienting of attention primates, rodents and humans are quite similar, but this is not so with executive control. In humans, attention networks continue to develop at different rates during infancy and childhood and into adulthood. From age four on, the Attention Network Test (ANT) allows measurement of individual differences in the alerting, orienting and executive networks. Overt and covert orienting do overlap in their anatomy, but there is evidence of some degree of functional independence at the cellular level. The attention networks frequently work together with sensory, memory and other networks. Integration of animal and human studies may be advanced by examining common genes involved in individual attention networks or their integration with other brain networks. Attention networks involve widely scattered computation nodes in different brain areas, both cortical and subcortical. Future studies need to attend to the white matter that connects them and the direction of information flow during task performance. [ABSTRACT FROM AUTHOR]

Background: Head and neck squamous cell carcinoma (HNSCC) is one of the most prevalent cancers worldwide. The identification of molecular alterations adding to the individual risk of HNSCC development and progression is one of the most important challenges in studies on cancer genetics. MicroRNAs (miRNAs), which belong to the group of important post-transcriptional regulators of human gene expression, seem to be valuable options for consideration as key modifiers of individual cancer risk, and therefore may be helpful in predicting inter-individual differences in cancer risk, response to treatment and prognosis. Methods: There have not been many studies focused on the relationship between miRNA variants and HNSCC published in PubMed within the last 15 years. We found and analyzed 30 reviews, meta-analyses and research papers and revealed 14 SNPs which have been reported as significant in the context of HNSCC susceptibility and/or prognosis. Results: These 14 SNPs were located in 13 separate miRNAs. Among them, four were the most frequently studied (miRNA-146, -196, -149 and -499) and have been shown to have the greatest impact on the course of HNSCC. However, the presented results have been conflicting. Conclusions: It must be concluded that, despite the years of studies, there are no conclusive reports demonstrating a significant role of SNPs in miRNAs in the context of the susceptibility to HNSCC or its prognosis. [ABSTRACT FROM AUTHOR]

The paper presents the results of search for candidate genes for live weight in sheep of the southern meat breed. The sample of 48 ewes weighed at the age of 24 months and older was genotyped on an Ovine SNP 50 Genotyping BeadChip array. Using the method of fixation indices (FST), we detected 55 polymorphisms associated with live weight. Ten SNPs with the highest FST value were selected to check the effect on the trait under investigation. All the candidate genes showed the association with the live weight trait. It is interesting to note that, in the NDFIP1 gene, two significant SNPs with a high FST value were detected. [ABSTRACT FROM AUTHOR]

Background: Chagas disease is a lifelong infection caused by the protozoa Trypanosoma cruzi endemic in Latin-America and emergent worldwide. Decades after primary infection, 20-30% of infected people develop chronic Chagas cardiomyopathy (CCC) while the others remain asymptomatic. CCC pathogenesis is complex but associated with sustained pro-inflammatory response leading to tissue damage. Hence, levels of IL-10 could have a determinant role in CCC etiology. Studies with Latin-American populations have addressed the association of genetic variants of IL-10 and the risk of developing CCC with inconsistent results. We carried out a case control study to explore the association between IL-10-1082G>A (rs18008969), -819C>T (rs1800871), -592A>C (rs1800872) polymorphisms and CCC in a population attending a hospital in Buenos Aires Argentina. Next, a systematic review of the literature and a meta-analysis were conducted combining present and previous studies to further study this association. Methods: Our case control study included 122 individuals with chronic T. cruzi infection including 64 patients with any degree of CCC and 58 asymptomatic individuals. Genotyping of IL-10 -1082G>A, -819C>T, -592A>C polymorphisms was performed by capillary sequencing of the region spanning the three polymorphic sites and univariate and multivariate statistical analysis was undertaken. Databases in English, Spanish and Portuguese language were searched for papers related to these polymorphisms and Chagas disease up to December 2021. A metanalysis of the selected literature and our study was performed based on the random effect model. Results: In our cohort, we found a significant association between TT genotype of -819 rs1800871 and AA genotype of -592 rs1800872 with CCC under the codominant (OR=5.00; 95%CI=1.12-23.87 P=0,04) and the recessive models (OR=5.37; 95%CI=1.12-25.68; P=0,03). Of the genotypes conformed by the three polymorphic positions, the homozygous genotype ATA was significantly associated with increased risk of CCC. The results of the meta-analysis of 754 cases and 385 controls showed that the TT genotype of -819C>T was associated with increased CCC risk according to the dominant model (OR=1.13; 95% CI=1.02-1.25; P=0,03). Conclusion: The genotype TT at -819 rs1800871 contributes to the genetic susceptibility to CCC making this polymorphism a suitable candidate to be included in a panel of predictive biomarkers of disease progression. [ABSTRACT FROM AUTHOR]

Summary: Biomarker identification may provide strategic opportunities to understand disease pathophysiology, predict outcomes, improve human health, and reduce healthcare costs. The highly heterogeneous Covid‐19 clinical manifestation suggests a complex interaction of several different human, viral and environmental factors. Here, we systematically reviewed genetic association studies evaluating Covid‐19 severity or susceptibility to SARS‐CoV‐2 infection following PRISMA recommendations. Our research comprised papers published until December 31st, 2020, in PubMed and BioRXiv databases focusing on genetic association studies with Covid‐19 prognosis or susceptibility. We found 20 eligible genetic association studies, of which 11 assessed Covid‐19 outcome and 14 evaluated infection susceptibility (five analyzed both effects). Q‐genie assessment indicated moderate quality. Five large‐scale association studies (GWAS, whole‐genome, or exome sequencing) were reported with no consistent replication to date. Promising hits were found on the 3p21.31 region and ABO locus. Candidate gene studies examined ACE1, ACE2, TMPRSS2, IFITM3, APOE, Furin, IFNL3, IFNL4, HLA, TNF‐ɑ genes, and ABO system. The most evaluated single locus was the ABO, and the most sampled region was the HLA with three and five candidate gene studies, respectively. Meta‐analysis could not be performed. Available data showed the need for further reports to replicate claimed associations. [ABSTRACT FROM AUTHOR]

Obesity is a global epidemic associated with chronic inflammation, oxidative stress, and metabolic disorders. Bariatric surgery is a highly effective intervention for sustained weight loss and the improvement of obesity-related comorbidities. However, post-surgery nutritional deficiencies, including vitamin E, remain a concern. This study investigates the role of single-nucleotide polymorphisms (SNPs) in genes related to vitamin E transport and bioavailability in determining vitamin E levels post bariatric surgery. A cohort of 140 patients with obesity undergoing bariatric surgery was analyzed. Serum vitamin E levels were measured before and one year after surgery, and SNPs in genes associated with vitamin E transport and metabolism were genotyped using PCR, DHPLC, and sequencing methods. Associations between SNPs, haplotypes, and vitamin E levels were statistically evaluated. Significant associations were observed between the APOE rs7412 SNP and serum vitamin E levels. The rare T allele was linked to lower vitamin E levels post surgery, with an increased frequency in patients with severe deficiency (<11.6 μmol/L). Haplotype analysis of APOE revealed that the ε2 haplotype (T-T) was strongly associated with vitamin E deficiency. Other SNPs, including CD36 rs1761667, SCARB1 rs4238001, and ABCA1 rs4149314, were also linked to changes in vitamin E levels, suggesting that an impaired bioavailability and transport can be the reason for low vitamin E levels post surgery. Genetic polymorphisms in APOE, CD36, SCARB1, and ABCA1 significantly influence vitamin E status after bariatric surgery. These findings highlight the importance of personalized supplementation strategies considering patients' genetic profiles to mitigate the risk of vitamin E deficiency and related complications. [ABSTRACT FROM AUTHOR]

Vitamin D is a key molecule in calcium and phosphate homeostasis; however, increasing evidence has recently shown that it also plays a crucial role in the immune system, both innate and adaptive. A deregulation of vitamin D levels, due also to mutations and polymorphisms in the genes of the vitamin D pathway, determines severe alterations in the homeostasis of the organism, resulting in a higher risk of onset of some diseases, including osteoporosis. This review gives an overview of the influence of vitamin D levels on the pathogenesis of osteoporosis, between bone homeostasis and immune system. [ABSTRACT FROM AUTHOR]

Objective: The objective of the current study was to investigate the correlation between polymorphisms in extracellular matrix‐degrading enzymes and the risk of intervertebral disc degeneration (IDD) diseases. Methods: The databases PubMed, Embase, and Cochrane Database were systematically queried from the inception until March 2023 to ascertain studies that meet the eligibility criteria. Utilizing a standardized data collection form to extract data from individual studies. The data were quantified using odds ratio (OR) along with its corresponding 95% confidence interval (95% CI), following an allelic model of inheritance. Results: The study included a total of nine studies and indicated that the presence of rs17576 in the MMP9 gene was significantly associated with an increased risk of IDD diseases (GG: 1.30, 95% CI [1.09–1.55], p = 0.004). The presence of other polymorphisms in extracellular matrix‐degrading enzymes did not exhibit a significant association with the susceptibility to IDD. Conclusion: The current study demonstrated a noteworthy correlation between the GG genotype of MMP‐9 rs17576 and susceptibility to IDD. The available evidence is insufficient to substantiate the correlation between other extracellular matrix‐degrading enzymes and susceptibility to IDD. The constraints of this analysis necessitate further research involving larger sample sizes across diverse ethnicities to provide a comprehensive understanding of the true impact of these polymorphisms on susceptibility to IDD. [ABSTRACT FROM AUTHOR]

Background: Sudden infant death syndrome (SIDS) is the leading cause of death among infants aged between one month and one year. Altered enzyme activities or expression of acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) have been observed in SIDS patients that might lead to disturbed autonomic function and, together with other risk factors, might trigger SIDS. To explore the contribution of AChE and BChE from a genomic viewpoint, we sought to investigate the association between SIDS and selected single nucleotide polymorphisms (SNPs) in the ACHE and BCHE genes. Methods: In this case-control study, 13 potentially regulatory SNPs were selected from ACHE and BCHE and were genotyped in 201 SIDS cases and 338 controls. The association of SIDS with the 11 successfully genotyped candidate variants was examined using statistical analyses of overall or stratified cases and haplotype analyses. Results: No significant overall associations were observed between SIDS and ACHE and BCHE variants in allele, genotype, and haplotype analyses. In subgroup analyses, eight variants were found to be nominally associated with SIDS, though these associations did not remain statistically significant after correction for multiple comparisons. One haplotype (T-C-G-C-C in rs3495-rs1803274-rs1355538-rs2048493-rs1126680) of BCHE was associated with the female SIDS subgroup (57.3% in controls vs. 46.3% in female SIDS cases, p = 0.010). Conclusions: The selected variants in ACHE and BCHE were not overall associated with SIDS in this study, and thus cannot generally explain the previously reported dysregulation of enzyme activities in SIDS. However, some evidence of association in subgroups and a possible contribution of variants other than those tested here would need to be explored in larger studies. [ABSTRACT FROM AUTHOR]

Background: The BCL2 interacting protein 3-like (BNIP3L) protein is involved in multiple myeloma (MM) development and progression. This study aims to explore the connection between BNIP3L single-nucleotide polymorphisms (SNPs) and MM. Methods: SNaPshot was used to examine six SNP loci of the BNIP3L gene in enrolled subjects. The relationship between these loci and MM susceptibility and prognosis was explored. Survival analysis was used to evaluate the impact of different factors on patient survival. Results: The rs2874670 AA genotype and A allele were associated with increased MM risk (P < 0.05). The CCACAC haplotype had a higher frequency in MM, while CCGCAC had a higher frequency in normal patients (all P < 0.05). Patients with R-ISS stage I and II had higher survival rates than those with stage III (P < 0.05). Patients, who received chemotherapy followed by autologous stem cell transplantation, had longer survival time than those who only received chemotherapy (P < 0.05). Low levels of LDH and β2-MG were associated with better survival rates (P < 0.05). Cox regression identified that LDH levels, β2-MG levels, and R-ISS staging were the risk factors for the death of MM. Mann-Whitney U test found a significant difference in survival time between MM patients with different BNIP3L rs2874670 genotypes after BD chemotherapy (P < 0.05). Conclusion: To our knowledge, this is the first study to find that BNIP3L rs2874670 could increase MM susceptibility in China. Different BNIP3L rs2874670 genotypes may affect the prognosis of MM patients receiving BD chemotherapy. [ABSTRACT FROM AUTHOR]

In the past 20 years the study of goat caseins genetic polymorphisms received a considerable research interest. In particular the researches were focused on CSN1S1 locus which is the most polymorphic, 17 alleles being known so far. These alleles are associated with four different levels of protein synthesis, affecting significantly goat milk quality and its technological properties. In this context the present review is describing recent literature data at international and national level, which allow the understanding of goat milk quality variation in relation with its physical-chemical characteristics, milk protein genetic polymorphisms and physiological factors. We also describe the current stage of researches concerning the use of milk protein polymorphisms in identifying possible adulterations from dairy industry and also studies on milk allergenic potency.

Background: Glutathione S‐transferases (GSTs) play a significant role in carcinogen detoxification, and hence, polymorphisms of this gene may lead to lung cancer susceptibility. Accordingly, this study is aimed at investigating GSTM1 and GSTT1 polymorphisms' association with lung cancer risk and their effects on the toxicities of platinum‐based chemotherapy used to treat Bangladeshi lung cancer patients. Methods: The study subjects comprised 180 lung cancer patients and 200 healthy volunteers. Genetic polymorphisms of GSTM1 and GSTT1 were analyzed using a multiplex PCR–based method. Chemotherapy toxicity was evaluated using the Common Terminology Criteria for Adverse Events (CTCAE v5.0). Results: GSTM1 null genotype was found to be significantly associated with a 1.6‐fold increased risk of lung cancer (OR = 1.60, 95%CI = 1.01–2.52, p = 0.0491), whereas no significant association was observed with GSTT1 null genotype and combined GSTM1 and GSTT1 null genotype. Moreover, no significant relationship was observed between GSTM1 and GSTT1 polymorphisms and the increased risk of platinum‐based chemotherapy‐induced toxicities in lung cancer patients. Conclusions: These findings indicated that the GSTM1 null but not GSTT1 null genotype was significantly associated with lung cancer susceptibility. These polymorphisms were not related to platinum‐based chemotherapy‐induced toxicities in Bangladeshi lung cancer patients. [ABSTRACT FROM AUTHOR]

Objectives: Human leukocyte antigen G (HLA-G) plays a crucial role in pregnancy. Pregnancy loss (PL) is caused by a variety of causes, such as fetal chromosomal abnormalities, maternal hypertension and diabetes, immune causes, spontaneous immune diseases, infections, unknown causes, etc. This study reports on the association of fetal HLA-G 3'UTR polymorphisms and diplotypes with chromosomally abnormal fetuses (CAF) or unexplained pregnancy loss (UPL). Methods: A total of 552 specimens were collected and grouped by next-generation sequencing technology (NGS) and fetal survival: UPL (112 cases), CAF (170 cases) and control (258 cases). The polymorphisms of HLA-G 3'UTR in all samples were detected by Sanger sequencing. The genotypes, haplotypes and diplotypes of HLA-G 3'UTR were analyzed. The classification and regression tree (CART) analysis was used to evaluate the role of HLA-G diplotypes in predicting fetal outcomes. The correlations between CAF or UPL and maternal age, paternal age, times of miscarrage, times of delivery were analyzed by logistic regression. Results: The frequencies of HLA-G + 2960del/del and + 3035CC genotypes were remarkablly increased in CAF than those in control group. The frequencies of HLA-G + 2960ins/del, + 3010CC, + 3035TC, + 3142GG, + 3187AA in CAF were significantly lower than those in normal fetuses. Through genetic models and logistic regression analysis, the dominant model of HLA-G 3'UTR genotypes [such as + 2960 (OR = 1.27, 95% CI = 1.05–1.54, p = 0.016), + 3010 (OR = 0.78, 95% CI = 0.63–0.97, p = 0.026), + 3035 (OR = 1.22, 95% CI = 1.00–1.49, p = 0.047), + 3142 (OR = 0.76, 95% CI = 0.62–0.95, p = 0.014) and + 3187 (OR = 0.80, 95% CI = 0.65–0.99, p = 0.041)] were dramatically associated with CAF. However, the frequencies of HLA-G + 3010GC, + 3142GC and + 3187AG in fetuses with UPL were memorably decreased than those in normal fetuses. No significant difference was found in the frequencies of HLA-G haplotypes in all groups. However, the frequency of UTR-1 positive specimens in CAF was significantly higher than that in UPL and control group. At the same time, the frequency of UTR-1/UTR-3 diplotypes in CAF was observably higher than that in UPL and control group, while the UTR-1/UTR-7 frequency in UPL was signally lower than that in control group. Multivariate logistic regression analysis indicated that positive HLA-G UTR-1 (OR = 1.8, 95% CI = 1.16–2.81, p = 0.009), times of abortion (OR = 1.23, 95% CI = 1.02–1.50, p = 0.035), and times of delivery (OR = 0.31, 95% CI = 0.20–0.48, p < 0.001) were correlated with CAF. Conclusions: This study suggests that HLA-G 3'UTR polymorphisms and diplotypes play an important role in the process of successful pregnancy of the embryos with abnormal chromosomes after fertilization. At the same time, Different alleles or diplotypes also affect the development of embryos with UPL. [ABSTRACT FROM AUTHOR]

Simple Summary: This study explores the association of two gene polymorphisms (AR (CAG)n and APEX1 c.444T>G (p.Asp148Glu)) with biochemical recurrence in Argentinian patients with prostate cancer. The findings suggest that patients with certain alleles (AR (CAG)M and the heterozygous APEX1 c.444TG genotype) are linked to an increased risk of prostate cancer relapse, even when accounting for conventional clinicopathological variables. Notably, patients with a combined AR (CAG)M and APEX1 c.444TT/GG genotype had the highest risk of relapse, indicating the potential of these polymorphisms as independent predictors. These results are particularly relevant for patients with prostate specific antigen (PSA) serum levels <10 ng/mL, where traditional markers may not predict outcomes. By incorporating these genetic markers into clinical models, this research offers a novel approach to enhance the precision of prostate cancer prognosis and improve patient stratification, ultimately guiding more personalized treatment strategies for high-risk individuals. Background/Objectives: Prostate cancer (PCa) is the leading malignancy and the third most common cause of cancer-related death in Argentinian men. Predicting outcomes in localized PCa remains difficult due to tumor heterogeneity. In this study, we assessed the impact of AR (CAG)n and APEX1 c.444T>G polymorphisms on biochemical relapse in Argentine patients with localized PCa. Methods: We genotyped blood samples from 123 PCa patients for AR (CAG)n and APEX1 p.Asp148Glu (c.444T>G) polymorphisms. Associations with clinicopathological parameters and biochemical relapse-free survival (BRFS) were assessed. Results: AR (CAG)20–23 was associated with a family history of breast/ovarian cancer (p = 0.0469). The combination of AR (CAG)20–23 and APEX1 c.444TT/GG correlated with a 2.89 times higher risk of biochemical relapse (log-rank p = 0.006). Multivariable analysis confirmed AR and APEX1 polymorphisms as independent predictors of biochemical relapse (HR = 3.95, p = 0.002). In patients with PSA levels <10 ng/mL, combined AR (CAG)20–23 and APEX1 c.444TT/GG genotypes were significantly associated with an increased risk of biochemical relapse (HR = 2.61, p = 0.044). Multivariable analysis confirmed the prognostic significance of these genotypes (HR = 3.44, p = 0.02). Conclusions: This study has identified AR (CAG)n and APEX1 c.444T>G polymorphisms as independent predictors of PCa relapse in Argentinian patients, suggesting their potential use in improving prognostic models. [ABSTRACT FROM AUTHOR]

We prove that relational structures admitting specific polymorphisms (namely, canonical pseudo-WNU operations of all arities n \geq 3) have low relational width. This implies a collapse of the bounded width hierarchy for numerous classes of infinite-domain constraint satisfaction problems (CSPs) studied in the literature. Moreover, we obtain a characterization of bounded width for first-order reducts of unary structures and a characterization of Monotone Monadic SNP (MMSNP) sentences that are equivalent to a Datalog program, answering a question posed by Bienvenu et al. In particular, the bounded width hierarchy collapses in those cases as well. Our results extend the scope of theorems of Barto and Kozik characterizing bounded width for finite structures and show the applicability of infinite-domain CSPs to other fields. [ABSTRACT FROM AUTHOR]

Background: Fat mass and obesity‐associated gene (FTO) genes rs9939609 is strongly associated with obesity and rs17817449 is an important and potential gene for obesity, have been well established. We aim to evaluate the relationship between FTO gene and overweight/obesity and confirm the influence of obesity on glucose and lipid metabolism parameters. Methods: We investigated 183 normal weight subjects and 193 individuals with overweight/obesity. Firstly, the effect of overweight/obesity on glucose and lipid metabolism parameters was analyzed. Then, the FTO genes rs9939609 and rs17817449 were counted to explore whether polymorphisms were associated with overweight/obesity and metabolic parameters. Results: Significant differences existed in glucose and lipid parameters between the group with overweight/obesity and control group. The rs9939609 and rs17817449 were strongly correlated with overweight/obesity. Haplotype analysis revealed that GA and GT haplotypes had 2.99 and 1.81 fold risk of overweight/obesity. FTO polymorphism also has effects on glucose and lipid metabolism parameters. Conclusions: There is a linkage imbalance between rs9939609 and rs17817449 in a Central China general population cohort, which also reflected the influence of FTO gene on the risk of overweight/obesity and total cholesterol (TC), triglyceride (TG), and high‐density lipoprotein (HDL) disorders. The new findings could provide new clues to predict obesity and metabolic diseases. [ABSTRACT FROM AUTHOR]

Prokineticins (PKs) are low molecular weight proteins that exert their effects by binding to two seven-transmembrane G-protein-coupled receptors (prokineticin receptors, PKRs). The prokineticin system is an important player in the development of various diseases. Several polymorphisms that are associated with infertility, neuroendocrine disorders, Hirschsprung's syndrome (HSCR), idiopathic central precocious puberty (CPP) and congenital disorders such as Kallmann syndrome (KS) have been described for both the PKs and PKR genes. The aim of this study is to summarize and describe the impact of PK/PKR polymorphisms on the pathogenesis and outcome of the above diseases, highlighting the PK system as a therapeutic target and diagnostic biomarker in pathological conditions. [ABSTRACT FROM AUTHOR]

The results of in vitro and in vivo studies have shown the pro-tumor effects of TNF-α, and this cytokine's increased expression is associated with poor prognosis in patients with some types of cancer. Our study objective was to evaluate the possible association of TNF-α genetic polymorphisms and serum levels with susceptibility and prognosis in a cohort of Mexican patients with NB. We performed PCR-RFLP and ELISA methods to analyze the genetics of these SNPs and determine serum concentrations, respectively. The distribution of the -308 G>A and -238 G>A polymorphisms TNFα genotypes was considerably different between patients with NB and the control group. The SNP rs1800629 GG/GA genotypes were associated with a decreased risk of NB (OR = 0.1, 95% CI = 0.03–0.393, p = 0.001) compared with the AA genotype, which was associated with susceptibility to NB (OR = 2.89, 95% CI = 1.45–5.76, p = 0.003) and related to unfavorable histology and high-risk NB. The rs361525 polymorphism GG genotype was associated with a lower risk of developing NB compared with the GA and AA genotypes (OR = 0.2, 95% CI = 0.068–0.63, p = 0.006). Circulating TNF-α serum concentrations were significantly different (p < 0.001) between patients with NB and healthy controls; however, we found no relationship between the analyzed TNF-α serum levels and SNP genotypes. We found associations between the rs1800629AA genotype and lower event-free survival (p = 0.026); SNP rs361525 and TNF-α levels were not associated with survival in patients with NB. Our results suggest the TNF-α SNP rs1800629 as a probable factor of NB susceptibility. The -308 G/A polymorphism AA genotype has a probable role in promoting NB development and poor prognosis associated with unfavorable histology, high-risk tumors, and lower EFS in Mexican patients with NB. It should be noted that it is important to conduct research on a larger scale, through inter-institutional studies, to further evaluate the contribution of TNF-α genetic polymorphisms to the risk and prognosis of NB. [ABSTRACT FROM AUTHOR]

Background: Platinum-based chemotherapy bring severe hematological toxicity that can lead to dose reduction or discontinuation of therapy. Genetic variations have been reported to influence the risk and extent of hematological toxicity; however, the results are controversial and a comprehensive overview is lacking. This systematic review aimed to identify genetic biomarkers of platinum-induced hematological toxicity. Method: Pubmed, Embase and Web of science database were systematically reviewed for studies that evaluated the association of genetic variants and platinum-related hematological toxicity in tumor patients with no prior history of chemotherapy or radiation, published from inception to the 28th of January 2022. The studies should have specific toxicity scoring system as well as defined toxicity end-point. The quality of reporting was assessed using the Strengthening the Reporting of Genetic Association Studies (STREGA) checklist. Results were summarized using narrative synthesis. Results: 83 studies were eligible with over 682 single-nucleotide polymorphisms across 110 genes. The results are inconsistent and diverse with methodological issues including insufficient sample size, population stratification, various treatment schedule and toxicity end-point, and inappropriate statistics. 11 SNPs from 10 genes (ABCB1 rs1128503, GSTP1 rs1695, GSTM1 gene deletion, ERCC1 rs11615, ERCC1 rs3212986, ERCC2 rs238406, XPC rs2228001, XPCC1 rs25487, MTHFR rs1801133, MDM2 rs2279744, TP53 rs1042522) had consistent results in more than two independent populations. Among them, GSTP1 rs1695, ERCC1 rs11615, ERCC1 rs3212986, and XRCC1 rs25487 present the most promising results. Conclusion: Even though the results are inconsistent and severalmethodological concerns exist, this systematic review identified several genetic variations that deserve validation in well-defined studies with larger sample size and robust methodology. [ABSTRACT FROM AUTHOR]

Objective: To investigate the influence of adiponectin (APN) rs2241766 and rs1501299 polymorphisms on adiponectin levels and their association with metabolic syndrome (MetS). Methods: Analyzed two polymorphisms (rs2241766 and rs1501299) of the adiponectin gene (ADIPOQ) in 210 MetS patients and 102 control patients using the polymerase chain reaction‐restriction fragment length polymorphism method and DNA sequencing technology. Results: The genotypes of the rs2241766 T/G and rs1501299 G/T polymorphism were significantly associated with serum APN levels in MetS patients. The ADIPOQ polymorphisms were associated with a risk of MetS when compared with that in healthy controls. TG and GG genotypes of rs2241766 were associated with a significantly elevated risk of MetS as compared with the TT genotype (OR = 1.32 and OR = 2.53). Subjects with the G allele appeared to have higher susceptibility to MetS than those with the T allele (OR = 2.21). In common with the findings for rs2241766, the rs1501299 GT and TT genotypes were associated with a significantly increased risk of MetS as compared with the GG genotype (OR = 1.51 and OR = 2.24). The susceptibility to MetS appeared to be higher in subjects with the T allele than in those with the G allele (OR = 1.88). Conclusions: The occurrence of MetS may be associated with genetic variations at the rs2241766 and rs1501299 loci, especially in individuals with T to G mutations (rs2241766) and G to T mutations (rs1501299). These mutations may lead to decreased APN levels and a higher risk of developing MetS. [ABSTRACT FROM AUTHOR]

We study the complexity of infinite-domain constraint satisfaction problems (CSPs): our basic setting is that a complexity classification for the CSPs of first-order expansions of a structure 21 can be transferred to a classification of the CSPs of first-order expansions of another structure 53. We exploit a product of structures (the algebraic product) that corresponds to the product of the respective polymorphism clones and present a complete complexity classification of the CSPs for first-order expansions of the n-fold algebraic power of (ℚ;<). This is proved by various algebraic and logical methods in combination with knowledge of the polymorphisms of the tractable first-order expansions of (ℚ;<) and explicit descriptions of the expressible relations in terms of syntactically restricted first-order formulas. By combining our classification result with general classification transfer techniques, we obtain surprisingly strong new classification results for highly relevant formalisms such as Allen's Interval Algebra, the n-dimensional Block Algebra, and the Cardinal Direction Calculus, even if higher-arity relations are allowed. Our results confirm the infinite-domain tractability conjecture for classes of structures that have been difficult to analyze with older methods. For the special case of structures with binary signatures, the results can be substantially strengthened and tightly connected to Ord-Horn formulas; this solves several longstanding open problems from the artificial intelligence (AI) literature. [ABSTRACT FROM AUTHOR]