Papers on minor allele frequency

53 papers1 new in 30 days

Monday, October 26

ESC Congress 2026 AbstractOct 26

Genetically mediated differences in LDL cholesterol were not consistently associated with venous thromboembolism: rare variant analyses in over 700,000 participants

Genetic association study of 700,000 peopleVenous thromboembolism

Paper

Saturday, August 29

JHEP ReportsAug 29

Multi-ancestry sequencing analysis in 293,141 participants identifies predisposition DNA repair genes associated with HCC risk

Case-control study of 290,547 peopleBiomarkers

Paper

Thursday, August 20

Frontiers in NutritionAug 20

Gene-diet interaction between CETP rs3764261 and vegetarian diet on HDL-C levels: evidence for precision nutrition from the Taiwan Biobank

Cross-sectional study of 9,263 peoplePopulations

Paper

Tuesday, March 31

CureusMar 31

Coexistence of Rheumatoid Arthritis, Cerebrovascular Disease, and Alzheimer's Disease: A Case Study With Genetic Insights

Case seriesMechanisms

Paper

Wednesday, March 25

Translational Vision Science & TechnologyMar 25

Distinct Genetic Profiles Associated With Subretinal Drusenoid Deposits and Cardiovascular Risk in Age-Related Macular Degeneration

Cohort study of 459 peopleEye

Paper

Friday, March 20

The Lancet Digital HealthMar 20

A predictive atlas of disease onset from retinal fundus photographs: a modelling study using data from population-based cohorts

Study of 61,256 peopleEye

Paper

Saturday, January 24

MedicineJan 24

Causal association between sarcopenia and iron deficiency anemia: A two-sample Mendelian randomization study

Computational studyMechanisms

Paper

Thursday, December 25

AAIC 2025 AbstractDec 25

Association of whole genome sequencing variants with time to Alzheimer's disease

Genetic association study of 14,000 peopleAlzheimer's disease

Paper

AAIC 2025 AbstractDec 25

Multi‐omics integration highlights transposable elements as latent regulatory factors involved in the preclinical processes of Alzheimer's disease and related dementias‐ADRD

Cohort study of 2,472 peopleTransposable element activity

Paper

Wednesday, December 24

AAIC 2025 AbstractDec 24

Rare variant associations with late‐life cognitive performance

Genetic association study of 8,481 peopleMechanisms

Paper

AAIC 2025 AbstractDec 24

Assessing the Relationship of APOE SNPs and Dementia in Native Hawaiians and Pacific Islanders

Cross-sectional study of 1,367 peoplePopulations

Paper

AAIC 2025 AbstractDec 24

Rare Variant Association Analysis Reveals B3GNT9, RANBP10, and C1QL4 As Potential Genes for Cognitive Preservation in the Mid‐Western Amish

Genetic association study of 868 peoplePopulations

Paper

Tuesday, December 23

AAIC 2025 AbstractDec 23

Addressing Heterogeneity in Genetic Studies of Cognitive Function: Insights from the ADSP‐PHC

Cross-sectional study of 9,698 peoplePopulations

Paper

Monday, November 3

AHA Scientific Sessions 2025 AbstractNov 3

Genetic Evidence Suggests Combined Inhibition of Lipoprotein(a) and PCSK9 to Lower Atherosclerotic Cardiovascular Disease Risk.

Genetic association study of 450,000 peoplePCSK9

Paper

AHA Scientific Sessions 2025 AbstractNov 3

APOH plays a distinct role in lipid trait dysregulation and increased CVD risk

Cohort study in peopleMechanisms

Paper

Thursday, October 23

ENDO 2025 AbstractOct 23

OR29-07 The Rs6190 Polymorphism Unveils Unprecedented Mechanisms Of Cardiovascular Health Elicited By The Glucocorticoid Receptor In Humans And Mice

Experiments in miceMechanisms

Paper

Wednesday, October 8

Human GenomicsOct 8

Genetic signatures of exceptional longevity: a comprehensive analysis of coding region single nucleotide polymorphisms (SNPs) in centenarians and supercentenarians

Cohort study of 21 peoplePopulations

Paper

Tuesday, June 24

GerontologyJun 24

Identification of a Risk Allele at SLC41A3 and a Protective Allele HLA-DPB1*02:01 Associated with Sarcopenia in Japanese

Case-control study of 129 peopleMuscle

Paper

Friday, June 13

ADA Scientific Sessions 2025 AbstractJun 13

Leveraging Rare Variant Association Analyses to Develop Polygenic Risk Scores (PRSs) for Type 2 Diabetes (T2D)

Genetic association study in peopleType 2 diabetes

Paper

Saturday, April 19

American Journal of Human GeneticsApr 19

Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration

Genetic association study of 406,952 peopleEye

Paper

Thursday, March 20

BrainMar 20

Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease

Cohort study of 20,513 peopleAlzheimer's disease

Paper

Monday, March 10

Journal of Clinical Laboratory AnalysisMar 10

Evaluation of SIRT1 Protein Levels and SIRT1/rs7895833 Distributions in Turkish Patients With Obstructive Sleep Apnea

Cross-sectional study of 199 peopleSirtuin signaling

Paper

Sunday, March 9

European Journal of Human GeneticsMar 9

Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis

Genetic association study in peopleEar

Paper

Wednesday, March 5

Alzheimer's & DementiaMar 5

Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults

Study of 3,021 peopleCognitive decline

Paper

Tuesday, August 13

The Journal of Clinical Endocrinology and MetabolismAug 13

Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus

Cohort study of 300,000 peopleMuscle

Paper

Friday, July 26

Scientific ReportsJul 26

Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly

Case-control study in peopleOverweight

Paper

Tuesday, March 26

JACC Heart FailureMar 26

Heart Failure Risk Among African-American Women With an ICAM1 Missense Variant

Cohort study of 8,401 peopleHeart failure

Paper

Saturday, February 10

International Journal of Molecular SciencesFeb 10

The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence

Experiments in human cellsCell cycle regulation

Paper

Tuesday, January 16

HypertensionJan 16

Genome-Wide Interaction Analysis With DASH Diet Score Identified Novel Loci for Systolic Blood Pressure

Genetic association study of 127,282 peoplePopulations

Paper

Tuesday, November 14

PLOS OneNov 14

Activin type I receptor polymorphisms and body composition in older individuals with sarcopenia-Analyses from the LACE randomised controlled trial

Cross-sectional study of 110 peopleSarcopenia

Paper