The article "Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI" [Hum Hered. 2025;90:72-81; https://doi.org/10.1159/000549644] by D. Curtis was published with the wrong open access license. The correct license of the article is CC-BY.The original article has been updated.

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.