Asthma is a chronic respiratory disorder characterized by airway inflammation, hyperresponsiveness, and reversible airflow obstruction. Despite therapeutic strategies, asthma remains inadequately controlled in many patients. Genetic predisposition plays a significant role in asthma pathogenesis, and the Proteinase-Activated Receptor 2 (PAR-2), encoded by the F2RL1 gene, has been associated with asthma. However, the role of PAR-2 and F2RL1 variants in the Chinese population remains unclear. This study aims to investigate the relationship between common F2RL1 polymorphisms and PAR-2 expression, and their association with asthma susceptibility and clinical severity in a Chinese population. This study enrolled 250 clinically diagnosed Chinese patients with asthma and matched healthy controls of a similar age and geographical region. Four single nucleotide polymorphisms in the F2RL1 gene (rs1529505, rs631465, rs2242991, and rs2243057) were genotyped using the TaqMan genotyping method. PAR-2 mRNA expression was quantified through real-time PCR in intravenous blood samples. Statistical analyses were conducted using GraphPad Prism v10 and other software. Variants of F2RL1 gene, specifically rs1529505 (OR= 1.65, 95%CI: 1.26 to 2.14, P =0.0002) and rs2272991 (OR= 1.89, 95%CI: 1.32 to 2.71, P =0.0005), were associated with asthma predisposition. Genetic variants rs1529505 and rs631465 were associated with susceptibility and clinical severity in Chinese patients with asthma. The mutant genotypes of rs2272991 and rs1529505 correlated with elevated PAR-2 mRNA expression levels. Haplotype distribution did not reveal significant differences between asthma cases and controls, nor among severity groups. This study elucidated the influence of F2RL1 polymorphisms on PAR-2 mRNA expression and their impact on asthma pathogenesis within the Chinese population. Further research involving diverse populations is necessary to validate these findings.

Introduction Previous study has demonstrated the protective effect of NID1 on myocardial infarction. This study aimed to assess the correlation between NID1 polymorphisms and the prognosis of heart failure (HF). In this study, we aimed to evaluate the association of NID1 polymorphisms with heart failure (HF). Methods A total of 1000 patients with HF were enrolled in the discovery cohort. Genotyping was conducted to assess the relationship between common variants in the NID1 gene and the prognosis of HF. A replication cohort involving 2266 HF patients was used to validate the association between variants and the prognosis of HF. A series of function analysis were conducted to illuminate the underlying mechanism. Results Synonymous variant rs3738530 was identified to be associated with the prognosis of HF in both the discovery cohort (adjusted P = 0.006, HR = 1.58, 95% CI= 1.14-2.19) and replication cohort (adjusted P = 0.005, HR = 1.83, 95% CI= 1.20-2.80). Western blot analysis demonstrated that the protein level of NID1 was significantly higher in the rs3738530-T allele compared to the A allele (P < 0.05). Transcription assays indicated that individuals with the rs3738530-AT+TT genotype exhibited elevated levels of NID1 mRNA relative to those with the AA genotype. Apoptosis assay indicated that overexpression of NID1 could protect AC16 cells from H/R-induced apoptosis. Furthermore, patients with rs3738530-AT+TT genotype exhibited a higher left ventricular ejection fraction and decreased left ventricular end-diastolic diameter compared to those with rs3738530-AA genotype (P< 0.05). Conclusion Common variant rs3738530 in the NID1 gene is associated with the prognosis of HF. NID1 may be a promising therapeutic target for HF in the future.

To explore the relationships between mitochondrial tRNA (mt-tRNA) mutations and essential hypertension (EH), and providing the valuable information for molecular diagnosis of EH.

The standard way of using tests for compatibility of genetic markers with the Hardy-Weinberg equilibrium (HWE) assumptionvas a means of quality control in genetic association studies (GAS) is to vcarry out this step of preliminary data analysis with the sample of non-diseased vindividuals only. We show that this strategy has no rational basis whenever the genotype--phenotype relation for avmarker under consideration satisfies the assumption of co-dominance.

Ideally, evaluating NGS performance requires a gold standard; in its absence, concordance between replicates is often used as substitute standard. However, the appropriateness of the concordance-discordance criterion has been rarely evaluated. This study analyzes the relationship between the probability of discordance and the probability of error under different conditions.

Joint linkage and association (JLA) analysis combines two disease gene mapping strategies: linkage information contained in families and association information contained in populations. Such a JLA analysis can increase mapping power, especially when the evidence for both linkage and association is low to moderate. Similarly, an association analysis based on haplotypes instead of single markers can increase mapping power when the association pattern is complex.

Previous studies have demonstrated effects of rare coding variants on common, clinically relevant phenotypes although the additive burden of these variants makes only a small contribution to overall trait variance. Although recessive effects of individual homozygous variants have been studied, little work has been done to elucidate the impact of rare coding variants occurring together as compound heterozygotes.

Rheumatoid arthritis (RA), a chronic autoimmune disorder, is currently a severe health threat. Previous studies have documented the altered expression of various miRNAs in RA patients. This study determined the expression of miR-124a in RA patients and estimated its diagnostic value for RA.

Non-linear Mendelian randomization is an extension of conventional Mendelian randomization that performs separate instrumental variable analyses in strata of the study population with different average levels of the exposure. The approach estimates a localized average causal effect function, representing the average causal effect of the exposure on the outcome at different levels of the exposure. The commonly used residual method for dividing the population into strata works under the assumption that the effect of the genetic instrument on the exposure is linear and constant in the study population. However, this assumption may not hold in practice.

Systemic lupus erythematosus (SLE) is a common autoimmune disease with unknown etiology. Recently, a growing number of evidence suggested that mitochondrial dysfunctions played active roles in the pathogenesis of SLE, but its detailed mechanism remains largely undetermined. The aim of this study was to analyze the frequencies of mitochondrial tRNA (mt-tRNA) variants in Chinese individuals with SLE.

Psoriasis is caused by an interplay between intrinsic and extrinsic factors. Parental consanguinity increases homozygosity in the genome of the offspring, which in turn increases disease risk. The association between parental consanguinity and psoriasis in the offspring remains unexplored. Therefore, this study sought to evaluate the association of parental consanguinity and family history with psoriasis in the offspring and to determine whether sex modulates the aforementioned associations.

Lung cancer is a global health concern. Molecular analysis of tumor tissues, especially in non-small cell lung cancers, has become an integral part of a holistic approach to the management of the disease. Here, molecular genetic data obtained from tumor tissues collected from 373 male and 89 female patients referred to our clinic with a diagnosis of non-small cell lung cancer are presented.

Rheumatoid arthritis (RA) has become a serious threat to human health and quality of life worldwide. Previous studies have demonstrated that genetic factors play a crucial role in the onset and progression of RA. Due to the rapid development of genome-wide association study (GWAS) and large-scale genetic analysis, GWAS research on RA has received widespread attention in recent years. Therefore, we conducted a comprehensive visualization and bibliometric analysis of publications to identify hotspots and future trends in GWAS research on RA.

Next-generation sequencing (NGS) data analysis has become an integral part of clinical genetic diagnosis, raising the question of variant prioritization. The Population Sampling Probability (PSAP) method has been developed to tackle the issue of variant prioritization in the exome of a single patient, by leveraging allele frequencies from population databases and a variant pathogenicity score.

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Spinocerebellar ataxia (SCA) is an autosomal dominant genetic disease characterized by cerebellar neurological deficits. Specifically, its primary clinical manifestation is ataxia accompanied by peripheral nerve damage. A total of 48 causative genes of SCA have been identified. This study aimed to identify causative genes of autosomal dominant SCA in a four-generation Chinese kindred comprising eight affected individuals.

Lung cancer is the most common cancer worldwide in mortality and the second in incidence. Epidemiological studies found a higher lung cancer risk for smoking women in comparison to men, but these sex differences, irrespective of smoking habits, remain controversial. One of the hypotheses concerns the genetic contribution of the sex chromosomes. However, while genome-wide association studies identified many lung cancer susceptibility loci, these analyses have excluded X-linked loci.

Porokeratosis is a rare chronic progressive hypokeratotic skin disease, possibly related to the mevalonate pathway. Variations in four enzymes, including phosphomevalonate kinase (PMVK) may alter this pathway, ultimately leading to porokeratosis.

Recessive mutations in the CAPN3 gene can lead to limb-girdle muscular dystrophy recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions.

The case-mother-control-mother design allows to study fetal and maternal genetic factors together with environmental exposures on early life outcomes. Mendelian constraints and conditional independence between child genotype and environmental factors enabled semiparametric likelihood methods to estimate logistic models with greater efficiency than standard logistic regression. Difficulties in child genotype collection require methods handling missing child genotype.

Polygenic score (PGS) is a valuable method for assessing the estimated genetic liability to a given outcome or genetic variability contributing to a quantitative trait. While polygenic risk scores are widely used for complex traits, their application in uncovering shared genetic predisposition between phenotypes, i.e., when genetic variants influence more than one phenotype, remains limited.