Over the past two decades, genome-wide association study(GWAS) has identified numerous genetic variants and loci associated with heritable diseases. With the gradual maturation and saturation of GWAS methodologies, transcriptome-wide association study(TWAS) offers a novel perspective by linkinggenetic phenotypes to gene expression levels. By integrating TWAS with other multi-omics analyses, researchers can gain a deeper understanding of heritable diseases. This article provides an overview of recent groundbreaking and representative TWAS methods and tools, analyzes their strengths and limitations, and discusses future trends in TWAS development.

Objective To investigate the value of serum olfactomedin-2(OLFM-2),endothelin-1(ET-1)and soluble triggering receptor expressed on myeloid cells-1(sTREM-1)in predicting vascular restenosis after stent implantation in patients with lower extremity arteriosclerosis obliterans(LASO).Methods A total of 140 LASO patients who received stenting in the interventional pain department of a hospital from January 2017 to December 2019 were selected as the study subjects.Serum levels of OLFM-2,ET-1 and sTREM-1 were detected by enzyme-linked immunosorbent assay.The serum levels of OLFM-2,ET-1 and sTREM-1 in LASO patients were compared before and after treatment.Patients were followed up for 1 year and were divid-ed into restenosis group(n=58)and non-restenosis group(n=82)according to whether they had recurrent vascular stenosis after surgery.Receiver operating characteristic(ROC)curve and Logistic regression were used to analyze the predictive value of postoperative serum OLFM-2,ET-1,and sTREM-1 on vascular resteno-sis after stenting in LASO patients.Results The levels of OLFM-2,ET-1 and sTREM-1 in serum of LASO patients after treatment were significantly higher than those before treatment,and the difference was statisti-cally significant(P＜0.05).The serum levels of OLFM-2,ET-1 and sTREM-1 in restenosis group were sig-nificantly different from those in non-restenosis group(P＜0.05).ROC curve analysis results showed that the optimal critical values of postoperative serum OLFM-2,ET-1 and sTREM-1 to predict the recurrence of vascu-lar stenosis after stent implantation in LASO patients were 27.35 ng/mL,97.36 pg/mL and 317.30 ng/L,re-spectively.The area under the curve(AUC)was 0.823(95％CI:0.722-0.923,P＜0.001),0.787(95％CI:0.679-0.897,P＜0.001)and 0.799(95％CI:0.688-0.910,P＜0.001),respectively,the combined detec-tion of the three could increase the AUC to 0.904(95％CI:0.831-0.977,P＜0.001).In LASO patients,the long length of lower extremity artery lesions,complete occlusion of lower extremity artery,trans-atlantic in-ter-society consensus type C+D and postoperative serum OLFM-2,ET-1 and sTREM-1 levels were independent risk factors for restenosis after stent implantation in LASO patients(P＜0.05).Conclusion Serum levels of OLFM-2,ET-1 and sTREM-1 are significantly increased in patients with vascular restenosis after stent implantation in LASO patients.Postoperative three combined detection of OLFM-2,ET-1,sTREM-1 has a high clinical value in the evaluation of vascular restenosis after stent implantation in LASO patients.

Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extremely rare, with a global incidence of less than one in a million among children. In this multidisciplinary consultation, we present a case of a 21-year-old young female patient having multisystemic involvement since early childhood. She was presented with multiple joint swelling, skin lesions, increased eye discharge, and accompanied by hypertension and arterial abnormalities, and received a diagnosis of uveitis. The patient had been receiving steroid treatment since the age of 6 and has tried various medications, with some improvement in joint swelling and ocular symptoms. Through this rare disease multidisciplinary consultation, we aim to provide guidance in the molecular diagnosis of the patient, multisystem assessment, and the selection and formulation of treatment plans. Additionally, we hope that by reporting this case, clinical physicians can gain a better understanding of the diagnosis and comprehensive treatment strategies for Blau syndrome, thereby improving the management and treatment of rare diseases.