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GenomicsGenome-Wide Association Studies in Upper Gastrointestinal Cancers (Asian)

This project aims to conduct genome-wide association studies (GWAS) in two anatomically different upper gastrointestinal (UGI) cancer sites in two populations with distinctly different disease rates and genetic profiles. One population has very high rates for both esophageal squamous cel...

phs000361.v1.p1 | EGA
UnknownIdentification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

Background & aims

Known genetic factors explain only a small fraction of genetic variation in colorectal cancer (CRC). We conducted a genome-wide association study to identify risk loci for CRC.

Methods

This discovery stage included 8027 cases and 22,577 controls of East-Asian ancestr...
S-EPMC4909543 | biostudies-literature
UnknownFine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes.
Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 1...
S-EPMC11053150 | biostudies-literature
UnknownGenome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
We performed a genome-wide association study (GWAS) and a multistage meta-analysis of type 2 diabetes (T2D) in Punjabi Sikhs from India. Our discovery GWAS in 1,616 individuals (842 case subjects) was followed by in silico replication of the top 513 independent single nucleotide polymorphisms (SNPs)...
S-EPMC3636649 | biostudies-literature
UnknownGlobal Variations in Heart Failure Etiology, Management, and Outcomes.

Importance

Most epidemiological studies of heart failure (HF) have been conducted in high-income countries with limited comparable data from middle- or low-income countries.

Objective

To examine differences in HF etiology, treatment, and outcomes between groups of countries at differe...
S-EPMC10189564 | biostudies-literature
UnknownGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Not available
S-EPMC4835977 | biostudies-literature
UnknownAssociation analysis identifies 65 new breast cancer risk loci.
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cance...
S-EPMC5798588 | biostudies-literature
UnknownDevelopment of a Definition of Postacute Sequelae of SARS-CoV-2 Infection.

Importance

SARS-CoV-2 infection is associated with persistent, relapsing, or new symptoms or other health effects occurring after acute infection, termed postacute sequelae of SARS-CoV-2 infection (PASC), also known as long COVID. Characterizing PASC requires analysis of prospectively and un...
S-EPMC10214179 | biostudies-literature
UnknownIdentification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 ...
S-EPMC5808456 | biostudies-literature
UnknownFine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.
Recent genome-wide association studies of Alzheimer's disease (AD) have identified variants in BIN1, CLU, CR1 and PICALM that show replicable association with risk for disease. We have thoroughly sampled common variation in these genes, genotyping 355 variants in over 600 individuals for whom measur...
S-EPMC3036586 | biostudies-literature
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