Search Results (186)

Wool has distinctive biological, physical, and chemical properties that contribute to its value both for the sheep and in global fibre and textile markets. Its fibres are primarily composed of proteins, principally keratin and keratin-associated proteins (KAPs). To better comprehend the genes that underpin key wool traits, this study examined the keratin-associated protein 36-1 gene (KRTAP36-1) in Chinese Tan lambs. We identified three previously reported alleles of the gene (named A, B and C) that were present in the lambs studied, with genotype frequencies as follows: 2.0% (n = 5; AA), 6.9% (n = 17; AB), 13.8% (n = 34; AC), 8.9% (n = 22; BB), 33.4% (n = 82; BC) and 35.0% (n = 86; CC). The frequencies of the individual alleles in the Chinese Tan lambs were 12.4%, 29.1% and 58.5% for alleles A, B and C, respectively. The three alleles were in Hardy–Weinberg Equilibrium. In an association analysis, it was revealed that allele C was associated with variation in the mean fibre curvature of the fine wool of the Chinese Tan lambs, but this association was not observed in their heterotypic hair fibres. This finding suggests that KRTAP36-1 might be differentially expressed in the wool follicles that produce the two fibre types, and that along with other KRTAP genes, it may be involved in determining fibre curvature and the distinctive curly coat of the lambs. Full article

Background/Objectives: Variations in hair length are observed in many dog breeds, as determined by the canine FGF5 gene. Long-haired Akitas, which are disqualified under breeding standards of Akitas, are sometimes born to short-haired parents and may have been subjected to treatments compromising animal welfare. Here, we aimed to identify an FGF5 variant associated with hair coat variations in Akitas in Japan, and to assess how welfare of this breed can be improved by carefully planned breeding. Methods: DNA samples were obtained from 60 Akitas in 2021 (modern Akitas) and 73 Akitas in the 1970s and the 1980s (classic Akitas). Sanger sequencing was performed on all exons and exon–intron junctions of the FGF5 gene to determine the causative variant of long hair in Akitas. A real-time PCR assay was developed to genotype FGF5:c.578C>T in modern and classic Akitas. Using 54 dogs from modern Akitas, scores (1 to 10) of hair length were compared among the three genotypes (C/C, C/T, and T/T). Results: Sanger sequencing revealed that the canine FGF5:c.578C>T variant was associated with long hair in Akitas in Japan. Genotyping revealed that the frequency of the mutant T allele was 0.350 in modern Akitas, which was significantly higher (p < 0.001) than in classic Akitas (0.212). The three genotypes were not in Hardy–Weinberg equilibrium (HWE) in modern Akitas but were in HWE in classic Akitas. There were significant differences in hair length scores among the three genotypes (p < 0.001) and between the C/C and C/T genotypes (p < 0.005). There was no significant difference in the scores between male and female dogs. Conclusions: This study revealed that a causative variant that determines the long hair trait of Akitas in Japan was the FGF5:c.578C>T variant, which was inherited in an incompletely dominant manner. Akita dog breeders were more likely to select heterozygous C/T dogs based on the appearance of the hair coat for breeding dogs with an ideal fluffy hair coat. This might result in a high mutant T allele frequency and the production of undesired long-haired Akitas with T/T, which may create welfare problems. Genetic testing for this variant is necessary to improve welfare and conserve the Akita breed. Full article

Several single-nucleotide polymorphisms (SNPs) across the lipoprotein lipase (LPL) gene have been found to be associated with dyslipidemia and obesity. Several InDels and SNPs in exon 1, intron 2, and intron 7 have been reported; however, their association with lipid parameters and body mass index (BMI) remains unclear. Here, we aimed to investigate the relationship among LPL variants, lipid levels, and BMI in a Kuwaiti population. Sanger sequencing was performed on three targeted regions of the LPL gene. Based on the minor allele frequency, Hardy–Weinberg equilibrium, and linkage disequilibrium, five SNPs were selected and genotyped in a cohort of 688 Kuwaiti samples to investigate their association with lipid levels and BMI. A total of 30 variants (6 InDels and 24 SNPs) were identified; of them, 5 SNPs (rs1800590, rs74377536, rs8176337, rs303, and rs304) were selected for their association with BMI and lipid levels. The G-allele of rs8176337 was found to be associated with increased BMI (β = 1.41; 95% confidence interval = 0.22–2.60; p = 0.02). In addition, an association was observed for rs303 and rs304 with both cholesterol and LDL (p < 0.05). Overall, our results demonstrate an association between LPL variants and lipid levels, and the observed association between rs8176337 and BMI was novel. Full article

Nero Siciliano (NS) is an autochthonous pig breed reared in northeastern Sicily; despite its high-quality meat products, NS is currently endangered. This study aimed to evaluate the genetic variability at nine loci within candidate genes for meat traits—Melanocortin 4 Receptor (MC4R), Ryanodine Receptor 1 (RYR1), Class 3 Phosphoinositide 3-Kinase (PIK3C3) and Leptin (LEP)—to provide useful information for preservation and exploitation of the NS pig breed. Distribution of the genetic variants was assessed in a representative sample of 87 pigs (18 boars and 69 sows) collected in nine farms located in the original breeding area. Genotypes have been determined using PCR-RFLP and Sanger sequencing. Alleles linked to different growth rates and back fat deposition showed high frequencies (MC4R c.175C—0.93; LEP g.3469T—0.91) in the whole sample. Deviations from Hardy–Weinberg equilibrium and different allele distribution in boars and sows were observed. The RYR1 g.1843T allele, associated with Malignant Hyperthermia and Pale Soft Exudative meat defect, was reported in seven heterozygote pigs (q = 0.04) with one farm exhibiting a frequency of 0.29. Our results suggest the need for continuous monitoring of the genetic variants in NS both to maintain high meat quality and eradicate the RYR1 g.1843T allele. Full article

Background/Objectives: Polycystic ovary syndrome (PCOS) is a multifactorial disorder influenced by both environmental and genetic factors. The aim of this study was to evaluate associations between selected polymorphisms (CYP19, INSR, FTO, MC4R) and the clinical manifestations of PCOS in a Polish female population. Methods: A total of 50 women (25 with PCOS and 25 healthy controls) were included. Genetic variants were identified using Polymerase Chain Reaction (PCR)-based methods. The frequencies of genotypes and alleles were compared between groups. Clinical symptoms such as irregular menstruation, hirsutism, acne, androgenetic alopecia, and overweight were assessed in relation to genotype. Results: No significant differences were found in genotype distributions for CYP19, FTO, INSR, or MC4R between PCOS and control groups. The MC4R polymorphisms showed deviations from Hardy–Weinberg equilibrium, possibly reflecting population-specific effects. Conclusions: Although most analyzed variants were not directly associated with PCOS in this cohort, the observed link between INSR rs1799817 and acne suggests a role in androgen-related symptoms. These findings contribute new insights to the genetic background of PCOS in Polish women and support the need for further studies combining genetic and phenotypic data in diverse populations. Full article

The evaluation of external pelvimetry measurements and the genetic factors influencing them is essential for improving morphological characteristics and reproductive performance in cattle. This study represents the first comprehensive analysis of the association between single nucleotide polymorphisms (SNPs) and external pelvimetry traits in Romanian Simmental cattle, a breed recognized for its distinctive pelvic morphology. The relationship between single-nucleotide polymorphisms (SNPs) and external pelvimetry traits—including croup height (CH), buttock height (BH), croup width (CW), rump angle (RA), and croup length (CL)—was examined in Simmental cows. From an initial set of 110 SNPs, 33 markers were retained after applying quality control filters, including a minor allele frequency (MAF) greater than 0.05 and Hardy–Weinberg equilibrium. These SNPs, located on multiple chromosomes, were identified within intronic, exonic, or regulatory regions of relevant genes such as CLSTN2, DPYD, FBXL7, FBXL13, SEMA6A, RUNX2, FSTL4, DST, DCBLD2, FRMD6, CAV2.3, ABL2, SH3BP4, RSBN1L,and SAMD12, suggesting that these genetic variants may influence the development and morphology of the pelvic bones. Statistical analysis revealed significant relationships between certain allele variants and croup measurements, highlighting that the presence of alternative alleles can modify their morphological traits. Notably, the G allele in CLSTN2 reduced croup height by 5.74 cm (p = 0.0227), while the T allele in RUNX2 decreased rump angle by 4.49° (p = 0.0119). Full article

Background: Non-contact tissue injury in elite athletes is influenced by multiple factors, including genetic predisposition. Although previous research has identified several genetic markers associated with injury susceptibility, the role of the CD36 (cluster of differentiation 36) gene, a key regulator of fatty acid transport into skeletal muscle and other vital tissues, remains unexplored in this context. A single-nucleotide polymorphism in the CD36 gene (rs1761667) involves an A-to-G substitution (with three genotypes = AA and GG homozygotes and AG heterozygotes), and previous data have reported that individuals carrying the AA genotype of the CD36 gene show reduced expression of the CD36 protein and poorer lipid metabolism. Additionally, it has been recently found that the frequency of the AA genotype is significantly lower in elite cyclists compared to field hockey players. No previous study has examined the association between the CD36 rs1761667 polymorphism and athlete injury risk. Therefore, the aim of this study was to investigate the potential association between the CD36 rs1761667 polymorphism and non-contact tissue injury susceptibility in elite Moroccan cyclists and field hockey players. Methods: Forty-three elite Moroccan male athletes, including 19 cyclists and 24 national team field hockey players, volunteered for this study. Non-contact tissue injuries during the 2022/2023 sports season have been recorded. Genotyping of the CD36 rs1761667 polymorphism was carried out using Sanger sequencing. Chi-square tests were used to analyze the Hardy–Weinberg equilibrium and compare the genotypes and characteristics of athletes with and without non-contact injuries. Results: During the 2022/2023 sports season, 21.05% of cyclists (4 out of 19) and 33.33% of field hockey players (8 out of 24) experienced non-contact tissue injuries. The genotypic frequency was similar in the injured and non-injured groups among cyclists (χ² and p not calculated because “AA = 0” in both groups), field hockey players (χ² = 3.30, p = 0.19), and all athletes (χ² = 1.73, p = 0.41). Additionally, the dominant model of the CD36 rs1761667 polymorphism (AA+AG vs. GG) did not reveal a significant risk of non-contact injuries among cyclists (OR: 1.20, 95% CI: 0.13–19.09, p > 0.9999), field hockey players (OR: infinity, 95% CI: 0.23-infinity, p = 0.53), and all athletes (OR: 2.75, 95% CI: 0.32–34.12, p = 0.65). Furthermore, the recessive model (AA vs. AG+GG) did not demonstrate any effect on the risk of non-contact injuries in cyclists (OR and 95% CI not calculated, p > 0.9999), field hockey players (OR: 0.33, 95% CI: 0.05–2.40, p = 0.38), and all athletes (OR: 0.55, 95% CI: 0.10–2.60, p = 0.69). Conclusions: This study suggests that the association between specific genotypes (AA, AG, and GG) or alleles (A and G) of the CD36 gene and susceptibility to non-contact tissue injuries in Moroccan cycling and field hockey players is uncertain. Given the small sample size, further studies will be needed to explore and confirm these findings. Full article

Background: Decathlon is a multimodality sport that requires the combination of endurance, strength, speed, and agility. A polymorphism present in the gene encoding for alpha-actinin-3 (ACTN3) potentially influences sports performance, since this protein is a structural component of skeletal muscle contributing to muscle contraction effectiveness. Aim: To investigate whether the presence of the ACTN3 R577X polymorphism is associated with decathlon athletes’ performance in the different modalities of decathlon. Methods: Thirty-one male athletes from the Brazilian national federation of decathlon aged between 18 and 50 years were genotyped for the ACTN3 R577X polymorphism using real-time polymerase chain reaction (RT-PCR). The athletes’ latest decathlon performances were recorded over ten competitions. The Hardy–Weinberg equilibrium was verified. Pearson’s correlation coefficient was utilized to assess the relationship between the obtained sports performance (score) by event and sets of events (speed events, jumps, and throws) with significance considered at p < 0.05. Results: Strong and significant correlations were identified between the speed events, the jumping, and the launching performances. Among the athletes, the distribution of ACTN3 genotypes was as follows: R577R—51.6%, R577X—48.4%, and X577X—0%, indicating a complete absence of homozygosity for the non-functional X allele in this cohort. No significant differences in sports performance (score) could be observed based on the genotype. Conclusions: Our results may support the importance of the ACTN3 genotype, specifically, the presence of the 577R allele, as one of the contributive factors for athletes’ performance in modalities that involve muscle strength, power, and speed. However, given the small sample size and the retrospective nature of this study, further research is warranted. Full article

In this study, 172 Single-Nucleotide Polymorphisms (SNPs) (94 identity-informative SNPs, 56 ancestry-informative SNPs, and 22 phenotypic-informative SNPs) included in the ForenSeq™ DNA Signature Prep kit/DNA Primer Mix B (Verogen) were used for genotyping DNA samples from a population of twenty-one unrelated subjects, native to Northeast Italy. SNP sequencing was performed with the MiSeq FGx™ Forensic Genomics System (Illumina-Verogen), and data were analyzed using the Universal Analysis Software (UAS) v1.2. Raw data underwent further examination with STRait Razor v3 (SRv3) to compare the target SNPs’ genotype calls made with UAS and to identify the presence of microhaplotypes (MHs) due to SNPs associated with the same target SNP’s amplicon. The allele (haplotype) frequencies, Hardy–Weinberg equilibrium, linkage disequilibrium, number of effective alleles (A_e), and relevant forensic statistic parameters were calculated. Among the 172 SNPs evaluated, 45 unique microhaplotypes were found, comprising a novel sequence variant never previously described. The presence of MHs resulted in an 8.00% rise in the typologies of unique sequences, leading to changes in A_e. Notably, for 12 out of the 94 iiSNPs, the values of A_e exceeded 2.00, which is generally associated with a higher expected heterozygosity and increased power of discrimination. Full article

Background and Objectives: Atrial fibrillation (AF) is the most common cardiac arrhythmia globally, leading to a high risk of stroke and heart failure. Genetic factors are known to play an essential role in AF risk. However, studies on genetic predisposition in asymptomatic young populations remain limited. This study aimed to investigate the prevalence of genetic variants in the PITX2 (rs2200733, rs10033464, and rs13143308), TBX5 (rs883079), PRRX1 (rs3903239), ZFHX3 (rs2106261), and HAND2 (rs7698692) polymorphisms and to assess their correlation with susceptibility to AF in a young adult population in India. Materials and Methods: This cross-sectional study included 250 subjects aged 18–29. Detailed lifestyle and family histories were collected for each participant. Genetic variation was determined using a specific TaqMan SNP genotyping assay. Hardy–Weinberg equilibrium (HWE) analysis and chi-square tests were employed to assess genotype frequencies, and statistical associations with lifestyle factors (body mass index, alcohol consumption, and smoking) were evaluated using t-tests and descriptive statistics. Results: Minor allele frequencies were varied across the study population, with notable frequencies in rs2200733 T (16%), rs10033464 T (27%), rs13143308 T (32%), rs883079 T (46%), rs3903239 G (25%), rs2106261 T (26%), and rs7698692 G (14%). HWE analysis confirmed that all SNPs were in equilibrium (p > 0.05). Approximately 15% of individuals carried six or more risk alleles, indicating a significant genetic predisposition to AF despite the absence of clinical symptoms. Conclusions: This study provides new insights into the genetic predisposition to AF among young adults in India. The high prevalence of risk alleles in asymptomatic young adults highlights the necessity of early genetic screening for AF risk and the role of genetic counseling in preventing cardiac complications. Full article

In this study, we compared the genetic diversity and structure of small yellow croaker (Larimichthys polyactis, LP), large yellow croaker (Larimichthys crocea, LC), and their reciprocal hybrids (LP ♀ × LC ♂ (LCP) and LC ♀ × LP ♂ (LPC)) using 14 microsatellite loci. Our results revealed that genetic diversity was highest in LCP, followed by LP and LPC, with LC exhibiting the lowest level. Additionally, among the two hybrid progenies, the number of loci in LCP deviating from Hardy–Weinberg equilibrium was lower. This suggests that LCP is a more appropriate choice as breeding material and has the potential to enhance germplasm resources. Based on the analysis of 14 microsatellite loci, we observed that both hybrid species clustered with their respective maternal parents. Specifically, LPC exhibited a closer genetic relationship to its maternal parent than LCP did. Furthermore, the majority of genes in LPC were inherited from its maternal parent (LP). In the LCP population, approximately 63% of individuals possessed gene profiles similar to those observed in LPC, while the remaining individuals displayed a mix from both parents. This study provides a strategic direction for the efficient utilization and management of novel germplasm resources in hybrid yellow croaker. Hybrid yellow croaker serves as an intermediate breeding material, playing a significant role in the genetic improvement of Larimichthys crocea and Larimichthys polyactis. Full article

Fatty acid synthase (FAS) is a fundamental metabolic enzyme that catalyzes the synthesis of endogenous fatty acids; TACR3, also known as tachykinin receptor 3 or NK3R, is an important G-protein-coupled receptor that is primarily responsible for responding to neuropeptides such as neurokinin B (NKB) and plays a crucial role in embryonic development, organ formation, and cell differentiation. This study aimed to explore the association between the single-nucleotide polymorphisms (SNPs) of the FAS and TACR3 genes and the milk quality of Gannan yak and to determine them as potential molecular marker loci for the milk quality of yaks. The genotyping of 162 Gannan yaks was performed using liquid-phase chip technology. Association analyses were conducted between the obtained SNP loci genotypes and milk composition traits, including milk protein, casein, non-fat solids, and acidity. Comparative sequence analysis of two genes (FAS and TACR3) across multiple species revealed that the yak FAS gene exhibited the highest homology with Bos taurus and Bos indicus, while the yak TACR3 gene showed the greatest sequence similarity to Bos taurus. Hardy–Weinberg equilibrium tests were performed on four SNP loci, and the equilibrium indices of the four loci were 0.799, 0.368, 0.689, and 0.948 (p > 0.05), indicating that all of these loci are in Hardy–Weinberg equilibrium state. g.13,276T>C (FAS) was significantly correlated with lactose content traits (p < 0.05); g.74,382C>G (FAS) was significantly correlated with casein, protein, total solids, non-fat solids, and acidity traits (p < 0.05); g.40,529A>G (TACR3) was significantly correlated with protein, non-fat solids, citric acid, and acidity traits (p < 0.05). The influence of g.40,555C>T (TACR3) on these traits did not reach a significant level (p > 0.05). This study suggests that two genes can serve as potential candidate genes affecting the quality of Gannan yak milk, providing reference genes for improving the quality of Gannan yak milk. Full article

Honey bees are crucial to both the ecosystem and the economy. However, they are subject to different influences that can lead to a loss of genetic diversity. In this study, we used mitochondrial DNA information and nuclear microsatellite markers to compare worker individuals that strictly meet the morphological breed standard of the Pannonian bee in Hungary to those with morphological disorders (yellow color of the abdomen). Additionally, this study involves Carniolan colonies from two European countries and other bee subspecies as a reference group that might have crossed into the Pannonian bee. As for the mitochondrial DNA, the combined assessment of COI and 16S genes identified six haplotypes. Based on the tRNAleu-cox2 intergenic region (E2/H2), our samples belonged to the C evolutionary lineage. According to the microsatellite data, the level of inbreeding was low in all groups investigated, and only the genotypes of the Pannonian bee showed significant deviation from the Hardy–Weinberg equilibrium state. Cluster analysis and the Discriminant Analysis of Principal Components showed that bees that failed the morphological breed identification had started to diverge genetically from those meeting the breed standards, becoming more similar to the Carniolan bee. Our findings suggest that the genetic status of the Pannonian bees investigated in this study is satisfactory. However, in order to maintain an adequate level of diversity, periodic genetic monitoring of the colonies is necessary. Full article

Salix kusanoi is an endangered riparian tree species endemic to Taiwan. This study aimed to evaluate the genetic diversity and population structure across eight fragmented populations employing 33 microsatellite loci. The findings revealed moderate genetic diversity (mean A_E = 3.85, H_O = 0.22) and significant deviations from the Hardy–Weinberg equilibrium. This indicated an evolutionary pressure, such as genetic drift and inbreeding. The Analysis of Molecular Variance (AMOVA) demonstrated evident genetic differentiation among populations (F_ST = 0.30). Principal Coordinates Analysis (PCoA) and Bayesian clustering (STRUCTURE) described distinct regional genetic patterns, with K = 5 providing a robust context for understanding localized genetic variation. Conservation interventions, including targeted in situ conservation for genetically unique populations (SBF) and genetic rescue strategies for genetically underprivileged populations (NW and NT), are proposed to safeguard the genetic integrity and adaptive potential of S. kusanoi. Full article

Background/Objectives: Buffalo populations exhibit distinct genetic variations influenced by domestication history, geographic distribution, and selection pressures. This study investigates the genetic structure and differentiation of 11 buffalo populations, focusing on five loci related to milk protein (CSN1S1 and CSN3) and fat metabolism (LPL, DGAT1 and SCD). The aim is to assess genetic variation between river, swamp, and wild-type buffaloes and identify key loci contributing to population differentiation. Methods: Genetic diversity was analyzed through allele frequency distribution, the Hardy−Weinberg equilibrium testing, and observed (Ho) and expected heterozygosity (He) calculations. Population structure was assessed using principal component analysis (PCA), F_ST statistics, and phylogenetic clustering (k-means and UPGMA tree). The silhouette score (SS) and the Davies−Bouldin index (DBI) were applied to determine optimal population clustering. Results: Significant genetic differentiation was observed between river and swamp buffaloes (p < 0.001). DGAT1 and CSN3 emerged as key markers distinguishing buffalo types. The Italian Mediterranean buffalo exhibited the highest genetic diversity (Ho = 0.464; He = 0.454), while the Indonesian, Chinese, and Vietnamese populations showed low heterozygosity, likely due to selection pressures and geographic isolation. The global F_ST (0.2143; p = 0.001) confirmed moderate differentiation, with closely related populations (e.g., Nepal and Pakistan) exhibiting minimal genetic divergence, while distant populations (e.g., Egypt and Indonesia) showed marked differences, and the Romanian population showed a unique genetic position. Conclusions: These findings contribute to a deeper understanding of buffalo genetic diversity and provide a valuable basis for exploiting the potential of this species in the light of future breeding and conservation strategies specific for each buffalo type. Full article