Publications by authors named "Yan-Hui Fan"

Article Synopsis
  • The study aimed to create a practical method for screening and diagnosing congenital heart disease (CHD) in newborns at a community level, while also evaluating the prevalence of CHD and setting up a management system for treatment.
  • A total of 24,253 newborns were screened using a specific ultrasound method, with the CHD Screening Center providing definitive diagnoses and management for those who tested positive.
  • The results showed a CHD prevalence of 12.4‰, with high accuracy in screening methods, and highlights the effectiveness of early interventions in improving patient outcomes.
View Article and Find Full Text PDF

C═C bond breaking to access the C═N bond remains an underdeveloped area. A new protocol for C═C bond cleavage of alkenes under nonoxidative conditions to produce imines via an iron-catalyzed nitrene transfer reaction of 4-hydroxystilbenes with aryl azides is reported. The success of various sequential one-pot reactions reveals that the good compatibility of this method makes it very attractive for synthetic applications.

View Article and Find Full Text PDF

Adolescent idiopathic scoliosis (AIS) is the most common type of scoliosis. Controlling its curve progression is the most important clinical task. Although recent genome-wide association studies (GWASs) identified several susceptibility loci associated with the development of AIS, the etiology of curve progression has been still unknown.

View Article and Find Full Text PDF

Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.

View Article and Find Full Text PDF
Article Synopsis
  • Adolescent idiopathic scoliosis (AIS) affects around 3% of adolescents, and a previous study identified a genetic locus on chromosome 9p22.2 linked to AIS in a Japanese population.
  • A new international meta-analysis was conducted using data from eight different cohorts to test the association of this locus across diverse ethnic groups, analyzing data from 8,756 AIS cases and 27,822 controls.
  • The results indicated a strong association between the genetic variant rs3904778 and AIS, with significant findings in seven out of eight cohorts, suggesting that the BNC2 gene may be responsible for susceptibility to AIS.
View Article and Find Full Text PDF

Objectives: To investigate whether genetic variations on the estrogen metabolic pathway would be associated with risk of Alzheimer's disease (AD).

Design: Cross-sectional study.

Setting: Individuals were recruited at the Memory Clinic, Queen Mary Hospital, Hong Kong.

View Article and Find Full Text PDF

This study reports a novel identical complex disease allele harboring two non-synonymous mutations that were identified in two southern Chinese individuals of the same family with cleidocranial dysplasia (CCD). Blood samples were obtained from the proband, his parents, plus 100 matched control subjects. Exons 0 to 7 of the RUNX2 gene were amplified using specific primers and sequenced.

View Article and Find Full Text PDF

Background: Adolescent idiopathic scoliosis (AIS) is a common rotational deformity of the spine that presents in children worldwide, yet its etiology is poorly understood. Recent genome-wide association studies (GWAS) have identified a few candidate risk loci. One locus near the chromosome 10q24.

View Article and Find Full Text PDF

BEX2 (Brain expressed X-linked protein 2), a 13 kDa protein, is highly expressed in brain and testis. It is reported that the protein expression of BEX2 dramatically alters during the embryo development, but little is known about its function. By means of yeast two-hybrid screening, we isolated that INI1/hSNF5 was a binding partner for BEX2, a key component of SWI/SNF chromosome remolding complex.

View Article and Find Full Text PDF

Infection due to 2009 pandemic H1N1 influenza A virus (A[H1N1]pdm09) is commonly manifested as mild infection but occasionally as severe pneumonia. We hypothesized that host genetic variations may contribute to disease severity. An initially small-scale genome-wide association study guided the selection of CD55 single-nucleotide polymorphisms in 425 Chinese patients with severe (n = 177) or mild (n = 248) disease.

View Article and Find Full Text PDF

Large numbers of samples and marker loci were tested for association in genome-wide association studies (GWAS). Hence, quality control (QC) by removing individuals or markers with low genotyping quality is of utmost importance to minimize potential false positive associations. IPGWAS was developed to facilitate the identification of the rational thresholds in QC of GWAS datasets, association analysis, Manhattan plot, quantile-quantile (QQ) plot, and format conversion for genetic analyses, such as meta-analysis, genotype phasing, and imputation.

View Article and Find Full Text PDF

A study was conducted to validate the most significant single nucleotide polymorphism (SNP) from a genome-wide association study of Japanese adolescent idiopathic scoliosis (AIS) patients in an independent southern Chinese population. In total, 300 AIS patients fulfilled the clinical criteria and 788 controls with MRI scans of the spine were included in the replication study. We employed case-control analysis to study the association of SNP rs11190870 near LBX1 (ladybird homeobox 1) with AIS in a southern Chinese population.

View Article and Find Full Text PDF

In this case-controlled study, we tested susceptible genetic variants for Alzheimer's disease (AD) in CR1, CLU and PICALM from genome-wide association studies (GWAS) in a southern Chinese population. Eight hundred twelve participants consisting of 462 late-onset Alzheimer's disease (LOAD) patients and 350 nondemented control subjects were recruited. We found by multivariate logistic regression analysis, that single nucleotide polymorphisms (SNPs) in CR1 (rs6656401 adjusted allelic p = 0.

View Article and Find Full Text PDF

Nasopharyngeal carcinoma (NPC) is a malignancy of epithelial origin. The etiology of NPC is complex and includes multiple genetic and environmental factors. We employed case-control analysis to study the association of chromosome 6p regions with NPC.

View Article and Find Full Text PDF