Search Results (5,439)

Oat (Avena sativa L.), as an essential dual-purpose grain and forage crop, exhibits lodging resistance as a key factor directly impacting yield and quality. Therefore, breeding new oat varieties with lodging resistance is important to increase crop productivity and economic benefits. Using 130 oat germplasm as materials, 7 lodging resistance-related traits of oat, including plant height (PH), the fresh weight of single stem (FWSS), the length of basal second internode (LBSI), diameter of basal second internode (DBSI), wall thickness of basal second internode (WTBSI), stem breaking strength (SBS), and stalk puncture strength (SPS), were investigated in two experimental sites for one year. The results indicate that the seven lodging resistance-related traits exhibit a continuous distribution overall and generally follow a typical distribution pattern. A total of 36,928,068 high-quality Single-nucleotide polymorphisms (SNPs) generated from whole-genome resequencing were used for genome-wide association study (GWAS). Based on the BLINK (Bayesian-information and Linkage-disequilibrium Iteratively Nested Keyway) model threshold (−log₁₀(P) ≥ 6), 379 quantitative trait nucleotides (QTNs) associated with lodging resistance-related traits were identified. Among them, 38, 34, 78, 66, 55, 18, and 94 QTNs were associated with PH, FWSS, SBS, SPS, LBSI, DBSI, and WTBSI, respectively. Notably, three QTNs associated with FWSS and one QTN associated with SBS were stably detected across both environments, representing valuable markers for molecular breeding. From these loci, 54 candidate genes were annotated. Ranked by the number of candidate genes per trait, LBSI contained the highest number (14), followed by WTBSI (12), SPS (11), SBS (7), PH (5), and FWSS (5). Our findings provide critical support for analyzing the genetic mechanism of oat lodging resistance. Moreover, this study also offers a material and theoretical basis for the subsequent development of molecular markers and the breeding of new lodging-resistant oat varieties. Full article

Background: Nephrolithiasis is a significant global health and economic challenge, with an increasing prevalence and a high recurrence rate. However, there is limited knowledge regarding the potential associations between calcium nephrolithiasis risk and Chinese Han populations currently. Methods: To identify the genetic factors for calcium nephrolithiasis, we presented a genome-wide association study (GWAS) using a total of 1006 calcium nephrolithiasis cases and 1200 controls of Chinese Han ethnicity. Suggestive loci (p < 1.0 × 10⁻⁶) were replicated in 445 cases and 1008 controls. We also assessed the association of GWAS-level significant single-nucleotide polymorphisms (SNPs) with quantitative traits, including metabolic, kidney-related, and electrolyte traits. Results: Here we found three novel loci for calcium nephrolithiasis: SORBS2 on 4q35.1 (rs3736194; p = 2.84 × 10⁻¹³, OR = 0.6279), CXXC5 on 5q31.2 (rs356450; p = 6.09 × 10⁻¹⁶, OR = 2.0312), and MBD2 on 18q21.21 (rs55826947; p = 6.29 × 10⁻¹⁰, OR = 0.6017). Subsequent analyses revealed the association of SNP rs3736194 with higher serum carbon dioxide (p = 0.04666), rs356450 with lower serum chloride (p = 0.02992), and rs55826947 with higher BMI (p = 0.03174), respectively. Conclusions: We performed the first GWAS on calcium nephrolithiasis in a Chinese Han population cohort and identified three novel susceptibility loci on 4q35.1, 5q31.2, and 18q21.2. Further research into the molecular mechanisms underlying these variations in nephrolithiasis is warranted. Full article

Vertical jump performance is known to be a moderately heritable trait. However, previous studies on sport genetics have largely relied on candidate-gene approaches, which do not adequately reflect the polygenic nature of explosive performance, particularly among elite badminton players. Therefore, the aim of the present study was to identify genetic variants associated with lower-limb explosive performance, assessed via vertical jump measures, among elite Turkish badminton players using a genome-wide association study (GWAS) approach. The present study included 90 elite male (n = 47) and female (n = 43) badminton players, and 557 non-athletic controls sourced from a public database. Performance-related traits were evaluated through countermovement jump (CMJ), squat jump (SJ), and their differential. Genome-wide genotyping was performed using DNA microarrays, and associations were examined using linear mixed models fixed for sex/gender, body mass index, and sport experience. Although no variants reached genome-wide significance (p < 1.00 × 10⁻⁷), 13 single-nucleotide polymorphisms (SNPs) exceeded the suggestive threshold (p < 1.00 × 10⁻⁵). CMJ-associated variants were rs4905767, rs2911702, rs10246591, and rs9842454; SJ-associated variants were rs55817650, rs62318127, rs115197840, rs78317172, and rs35930589; and CMJ–SJ-associated variants were rs34638064, rs6679342, rs4931233, and rs9442615. The present study provides preliminary evidence that lower-limb explosive performance among elite badminton players is polygenic, involving regulatory and signaling pathways rather than single performance genes. Full article

Background/Objectives: Ischemic sudden cardiac death (SCD) is a devastating event that often occurs in apparently healthy individuals. Genetic susceptibility may play a key role in the pathogenesis of such ischemic events. This study aimed to investigate the correlations between Human Leukocyte Antigen (HLA) alleles, genotypes, and haplotypes and SCD to identify potential risk factors. This study also investigated three Single-Nucleotide Polymorphisms (SNPs) in the MYBPC3 gene and their association with SCD. Methods: We conducted an exploratory study between 2022 and 2024 in North-Western Transylvania (Romania) on 81 autopsy-confirmed SCD cases, compared with 162 controls for HLA typing, and with 96 controls for SNPs. HLA analysis of the HLA-DRB1 and HLA-DQB1 genes was performed using low-resolution SSP-PCR. The three SNPs in the MYBPC3 gene: rs142317339 (C > T), rs148808089 (G > A), and rs11570076 (G > A) were performed using a Real-Time PCR System. Results: The HLA-DRB1*07 allele has reduced odds of SCD, after adjustment for age and sex, and the HLA-DRB1*08 allele showed a trend toward increased odds. No statistically significant associations were detected at the allele or genotype level for HLA-DQB1. Haplotype-based analyses further revealed that genetic susceptibility is driven predominantly by low-frequency protective haplotypes rather than by common risk haplotypes, with several combinations conferring strong or moderate protection (HLA-DRB1*07~HLA-DQB1*03, HLA-DRB1*07~HLA-DQB1*02, and HLA-DRB1*15~HLA-DQB1*05). No statistically significant association was found between the three SNPs studied in the two groups, and their frequencies were very low. Conclusions: Specific HLA-DRB1 and HLA-DQB1 alleles and haplotypes may be associated with protection against SCD, supporting a possible immunogenetic role in SCD and the identification of genetic risk markers. Full article

Myocardial infarction (MI) remains a leading cause of morbidity and mortality worldwide, which can result in severe complications such as cardiac arrhythmia, heart failure, and sudden cardiac death. Genetic factors contribute to MI etiology and have been studied through genome-wide association studies (GWAS). This systematic review aims to summarize all GWAS of MI reporting single-nucleotide polymorphisms (SNPs) reaching genome-wide significance (p < 5 × 10⁻⁸) and elucidate on their biological relevance and potential clinical utility. A systematic review following PRISMA guidelines was conducted using PubMed and the GWAS Catalog to identify eligible studies. This review included nine GWAS published between 2007 and 2023, conducted in both European and non-European cohorts. GWAS have identified multiple loci associated with MI, pinpointing potential biological pathways underlying MI, and potential therapeutic targets and enhancing risk prediction. Nonetheless, significant challenges remain, particularly the underrepresentation of diverse ancestries and the need for functional follow-up studies to define causal variants and clarify the mechanisms linking genetic variation to MI pathogenesis. Full article

Background/Objective: Di-2-ethylhexyl phthalate and its bioactive metabolite mono-2-ethylhexyl phthalate (MEHP) are ubiquitous endocrine-disrupting chemicals implicated in carcinogenesis. However, the molecular mechanisms linking MEHP exposure, host genetic susceptibility, and prostate cancer progression remain incompletely defined. Methods: We integrated transcriptomic profiling of MEHP-exposed human prostate epithelial cells with a genetic association study of 630 patients with prostate cancer receiving androgen deprivation therapy. MEHP-responsive genes were identified from public microarray datasets and subjected to pathway enrichment analyses. Germline single-nucleotide polymorphisms (SNPs) in MEHP-regulated genes were evaluated for their association with progression-free survival, overall survival, and cancer-specific survival. The clinical and functional relevance of the key genes was further assessed using large-scale public prostate cancer expression datasets. Results: MEHP exposure induced widespread transcriptional reprogramming, prominently suppressing focal adhesion and cell–matrix interaction pathways. Genetic analyses identified multiple prognostically relevant SNPs within MEHP-responsive genes, with anoctamin 4 (ANO4) variants showing consistent associations across all clinical endpoints. The minor allele of rs17485225 in ANO4 was significantly associated with reduced all-cause and prostate cancer-specific mortality. Pooled analyses revealed reduced ANO4 expression levels in prostate cancer tissues and improved survival in patients with high ANO4 expression levels. Pathway analyses linked low ANO4 expression levels with enhanced cell cycle activity and compromised cell adhesion. Conclusions: Our findings suggest that ANO4 may act as a mediator of MEHP-associated prostate cancer progression and support a gene–environment interaction model in which environmental toxicant exposure and germline variation converge on focal adhesion dysregulation to potentially contribute to aggressive disease. Full article

Pepper (Capsicum annuum L.) is a significant vegetable crop, and its fruits tend to accumulate cadmium (Cd). The background value of soil Cd in the main pepper-producing area (southwest China) is relatively high, which results in a high risk of Cd contamination in pepper and its products in this area. Therefore, the cultivation of pepper varieties with low Cd accumulation is vital for ensuring food safety and the development of the pepper industry. A prior genome-wide association study (GWAS) identified the heavy-metal-transporting ATPase gene (CaHMA1) as a crucial gene that facilitates Cd accumulation in pepper fruits. Herein, three semi-thermal asymmetric reverse PCR (STARP) molecular markers (STARP1, STARP2, and STARP3) were designed according to three single-nucleotide polymorphism (SNP) loci (Chr02_154361710, Chr02_154362005, and Chr02_154367255) identified in the intronic region of CaHMA1. Subsequently, these STARP molecular markers were validated using 70 pepper core germplasms with known genotypes. The results indicated that the STARP markers exhibited an identity of over 95% with the corresponding SNP markers. By utilizing the aforementioned STARP markers, the pepper population was divided into two haplotypes (Hap) (Hap1 and Hap2). Under Cd stress, the average Cd content in the fruits of Hap2 pepper was 27.01% lower than that of Hap1. Collectively, these three STARP markers can rapidly and accurately identify the Cd accumulation capacity of pepper varieties with different haplotypes. Furthermore, 24 SNPs were additionally screened from 150 core SNPs according to the criteria of minor allele frequency (MAF) > 0.40, polymorphism information content (PIC) > 0.35, observed heterozygosity (OH) < 0.6, and uniform distribution across 12 chromosomes. These 24 SNPs were combined with the 3 SNPs from the STARP marker developed in the intron region of CaHMA1, and a pepper DNA fingerprinting map was successfully constructed. This DNA fingerprinting map achieved a 100% identification efficiency for 216 pepper germplasm accessions and was able to distinguish the Cd accumulation capacities among different pepper germplasm accessions. In conclusion, this study provides reliable STARP markers for the marker-assisted selection (MAS) breeding of pepper varieties with low Cd accumulation. Moreover, the constructed DNA fingerprinting map possesses dual functions, identifying varieties and evaluating Cd accumulation traits that have high practical value in pepper breeding. Full article

Schizothorax wangchiachii, as a cold-water fish, is a predominant or common species in high-altitude areas with large population sizes. It is among the main edible economic fish species in the production area. We used genotype sequencing (GBS) technology to analyze the genetic diversity and population structure of 10 wild populations in the Jinsha River and Yalong River basins of the upper Yangtze River. A total of 724,858 single-nucleotide polymorphisms (SNPs) were detected in these 10 wild populations. The population genetic diversity was low; however, the degree of genetic differentiation was not significant. The populations from the Jinsha River and Yalong River could not be clustered separately on the basis of the SNPs. The Panzhihua (PZH) and Wudongde (WDD) populations from the Jinsha River exhibited gene flow with the Yajiang (YJ) population from the Yalong River, and a secondary pulse of gene flow subsequently connected the PZH and WDD populations to the upper-Jinsha population Suwalong (SWL). The demographic history of S. wangchiachii, reflected in its effective population size (N_e), has been influenced by the uplift of the Qinghai–Tibet Plateau (QTP). Furthermore, the identified SNPs are functionally associated with key cellular processes, environmental adaptation, and metabolism. These findings provide critical genomic insights that can inform conservation strategies and support the sustainable utilization of wild S. wangchiachii resources. Full article

The Indian Ocean Tuna Commission (IOTC) manages swordfish, Xiphias gladius, a species of high economic importance in the Indian Ocean. Current stock assessments rely on catch per unit effort indices, which can be biased, complicating reliable abundance estimates. We explored alternative approaches by assessing the feasibility of the close-kin mark– recapture (CKMR) method, a powerful genetic-based approach. This pilot study aimed to validate protocols and guide future CKMR implementation at the IOTC scale. CKMR simulations were conducted to estimate the sample sizes required to detect sufficient kin pairs. Kinship analyses assumed a single panmictic population across the Indian Ocean, consistent with current IOTC management. A total of 2068 individuals were genotyped using SNP markers, identifying one parent-offspring pair (POP) and at least two half-sibling pairs (HSPs). As predicted by simulations, this sampling scale precludes robust estimation. However, results indicate that robust CKMR-based estimates could be achieved by sampling at least 18,000 swordfish over three years, representing about 20% of the current sampling effort already undertaken by contracting parties. The annual cost of genomic data generation for CKMR represents less than 0.5% of the first-sale market of swordfish in the Indian Ocean. Overall, this study supports the feasibility of CKMR for swordfish and provides a foundation for scaling up future programs to improve Indian Ocean stock assessments. Full article

Flowering time is an important developmental stage in plants, influenced by multiple genes and environmental factors. Understanding its genetic basis and interaction with the environment facilitates the development of improved varieties adapted to different environments. Conventional Genome-Wide Association Studies (GWAS) have been widely used to associate genetic markers with heritable traits, but they do not inherently capture interactions among single nucleotide polymorphisms (SNPs) or between SNPs and the environment. Machine Learning (ML) approaches can model these interactions and improve trait prediction even in the presence of noise and missing data. In this study, multi-environment lentil (Lens culinaris Medik.) data were analysed using GWAS and two widely used ML models, Random Forest and XGBoost, to identify genetic markers associated with flowering time. Model interpretability was enhanced using Explainable AI (XAI) techniques, including SHapley Additive exPlanations. GWAS identified eight significant loci across chromosomes one, two, five and seven, with the most significant SNP located at Chr2_530433205, while ML approaches identified nine markers on chromosomes one, two, three, five and seven, with the most significant SNP at Chr7_523220088. The majority of the identified markers were linked to candidate genes for flowering, while ML also identified potential epistasis. These findings highlight ML as a powerful complementary tool to GWAS for trait association. Full article

Background/Objectives: To identify US military unknowns, the Armed Forces Medical Examiner System’s Armed Forces DNA Identification Laboratory has historically relied upon mitochondrial DNA and Y-chromosomal short tandem repeat testing. Where no appropriate family reference sample (FRS) is available or skeletal samples are degraded, autosomal single nucleotide polymorphism (SNP) testing with next-generation sequencing could assist. Methods: A method utilizing hybridization capture enrichment of a 95,000 (95K) SNP panel, amenable to FRS and extremely challenging samples, was validated. The Parabon Fx Forensic Analysis Platform was used for analysis and extended kinship inference. Skeletal samples (n = 65) and associated FRS (n = 64) were selected for a performance evaluation and case-type sample study. Results: Considering FRS with ≥7 ng DNA input into library preparation, 94% yielded ≥66,320 SNPs at ≥5X coverage. SNP recovery for skeletal samples at ≥1X coverage ranged from 5 to 94,197 SNPs, averaging 40,770 SNPs. When skeletal samples resulted in ≥13,000 SNPs, the most likely relationship category was consistent with the expected relationship. A log10 likelihood ratio of ≥4 and a posterior probability of ≥99.99% were established as thresholds for strong statistical support, and 87% of inferences met these thresholds while 13% were considered inconclusive. Pairwise kinship inference between unrelated individuals yielded an unrelated result in 85% of comparisons, 66% with strong statistical support. There were 170 instances of false positive 4th degree relationship inferences with strong statistical support. All false positives involved skeletal samples from individuals of admixed ancestry. Conclusions: With this approach, autosomal SNP testing can result in reliable kinship inferences between related individuals out to 3rd, and in some cases 4th, degree relationships, increasing the scope of eligible FRS to aid in identifications. Full article

The citric acid cycle disruptions are implicated in the pathogenesis of chronic diseases, including diabetes, obesity, cancer, and cardiovascular conditions. Numerous publications link TCA cycle disorders to oncological, neurodegenerative, and osteoporotic diseases, and specific single-nucleotide polymorphisms have been proposed as potential markers. Nevertheless, lifestyle and diet have been strongly linked to risk factors for mitochondrial dysfunction; thus, preventive measures that minimize these risks are a relevant field of research. This review summarizes 45 years of relevant publications on the TCA cycle, its genetics and epigenetics, and the restorative potential of certain nutrients. The review includes articles in English and Russian, registered in PubMed, Elsevier, eLIBRARY.RU. The genes encoding the TCA cycle enzymes have been collected and presented. Information is provided that a number of changes in the expression of these genes, for example, Arg18Trp, Ser87Leu, Ala252Thr, and Leu357Val of the ACO2 gene, leads to the development of neurodegenerative diseases; mutations rs121913499, rs121913500 in the IDH1, IDH2 genes, rs1270341616 and the DLST gene lead to the development of cancer. There is evidence that through epigenetic modifications, nutrition affects the activity of the TCA cycle. Niacin, α-lipoic acid, succinic acid, resveratrol, curcumin, arginine, leucine, quercetin, ursolic acid, and alternol affect the regulation of the TCA cycle at the genetic level. Further research into the effects of plant metabolites, vitamins, and bioactive supplements on the TCA cycle may improve the existing preventative and therapeutic diets. Full article

The alarming surge in obesity rates represents a critical health concern in developed nations. This condition is associated with several health issues grouped under the term metabolic syndrome. This alarming data mandates an investigation into the causes and risk of this syndrome. One category of causes is genetic factors. The adiponectin gene has been subject to several studies exploring its single nucleotide polymorphisms, especially rs266729, across diverse populations. This study included 156 subjects. Body weight, body mass index, and blood pressure were measured, and levels of fasting plasma glucose (FPG), total cholesterol, triglycerides, HDL, and LDL were determined. Genotyping was performed. There was significant association of rs266729 polymorphism with obesity and type 2 diabetes mellitus (T2DM), with notably higher frequency of the G allele among these subjects. Additionally, the results demonstrated significant influence on the detected levels of HDL. Individuals carrying the homozygous (GG) and heterozygous (CG) genotypes exhibited a three-fold and two-fold increased risk of elevated FPG levels, respectively. There was also a significant association of these genotypes with T2DM when compared with the wild-type genotype (CC). These observations strongly indicated a potential involvement of the adiponectin gene polymorphism rs266729 in the pathogenesis of T2DM among subjects from North Bulgaria. Full article

Genetic and metabolic factors contribute to hypertension, yet integrated sex-specific models remain limited. In this cross-sectional study, we developed sex-specific models to discriminate prevalent hypertension discrimination by integrating genetic risk scores (GRSs) with metabolic and vascular biomarkers. From 2075 Korean adults, the final models were evaluated using model-specific complete-case datasets (total n = 775; males n = 382; females n = 397). Blood pressure-related single-nucleotide polymorphisms (SNPs) were screened using genome-wide association analyses (p < 1 × 10⁻⁵), and selected variants were used to construct weighted GRSs. Models integrating GRSs with body mass index (BMI), brachial–ankle pulse wave velocity (ba-PWV), and urinary 8-epi-prostaglandin F_2α (8-epi-PGF_2α) were evaluated by multivariable logistic regression and receiver operating characteristic analysis, with 1000-bootstrap internal validation. Three SNPs formed the total-sample GRS (rs13175330, rs117559502, rs62099117; adjusted odds ratio [OR] = 3.20) and three formed the female GRS (rs13175330, rs6001482, rs62099117; adjusted OR = 2.80); no stable male-specific GRS met prespecified criteria. The final discrimination models achieved an area under the curve of 0.833 in the total sample and 0.913 in females (BMI + ba-PWV + 8-epi-PGF_2α + GRS), and 0.758 in males (BMI + ba-PWV + 8-epi-PGF_2α). These findings support sex-aware hypertension risk characterization and warrant external and prospective validation. Full article

The black carp (Mylopharyngodon piceus) is an ecologically and economically important freshwater fish native to China and neighbouring regions, but its wild stocks have declined sharply in recent decades. We analysed mitochondrial cytochrome b (Cyt b) sequences from 100 individuals collected in 2008–2009 from four Yangtze River, two Pearl River and one Red River populations to assess genetic diversity and structure as a pre-ban baseline for maternal lineages. Sixteen polymorphic sites defined 17 haplotypes, with a single dominant haplotype (Hap2) shared across all populations. Haplotype diversity was high but nucleotide diversity low, and neutrality tests together with mismatch-distribution analyses were consistent with a recent Late Pleistocene demographic expansion. Pairwise FST values ranged from negligible differentiation among middle–lower Yangtze populations to pronounced differentiation between the upstream Yangtze population (SS) and middle–lower populations and between the Yangtze and the combined Pearl–Red basins, whereas Pearl and Red River populations showed no significant divergence and high mitochondrial homogeneity, consistent with substantial historical connectivity. Overall, the Cyt b data indicate low mitochondrial diversity and shallow but significant inter-basin structuring, providing preliminary mtDNA-based evidence that Yangtze and Pearl–Red populations represent candidate conservation and management units, and highlighting the need for nuclear genomic markers and contemporary sampling to refine drainage-scale units and evaluate recent management effects. Full article