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A comprehensive review of genetic association studies

Data up to Jan 2025

Published2002
Citations1,697
References41

Total Citations Per Year

Abstract

References (41)

Effects of Age, Sex, and Ethnicity on the Association Between Apolipoprotein E Genotype and Alzheimer Disease

1997 • 4,137 citations

Mutation in blood coagulation factor V associated with resistance to activated protein C

1994 • 3,871 citations

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

1993 • 3,693 citations

Genetic Dissection of Complex Traits

1994 • 3,497 citations

Genomic Control for Association Studies

1999 • 3,132 citations

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

2001 • 2,948 citations

Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C.

1993 • 1,997 citations

Association Mapping in Structured Populations

2000 • 1,990 citations

Searching for genetic determinants in the new millennium

2000 • 1,878 citations

The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

2000 • 1,770 citations

Association study designs for complex diseases

2001 • 1,415 citations

A Pro12Ala substitution in PPARγ2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity

1998 • 1,339 citations

Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies

1999 • 1,226 citations

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1995 • 870 citations

Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer.

1997 • 796 citations

The <EMPH TYPE="ITAL">APOE</EMPH>-∊4 Allele and the Risk of Alzheimer Disease Among African Americans, Whites, and Hispanics

1998 • 741 citations

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

1996 • 670 citations

Population genetics—making sense out of sequence

1999 • 641 citations

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

1991 • 615 citations

Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults

1999 • 542 citations

Methylenetetrahydrofolate Reductase Polymorphism, Plasma Folate, Homocysteine, and Risk of Myocardial Infarction in US Physicians

1996 • 496 citations

Detecting association in a case-control study while correcting for population stratification

2000 • 377 citations

Polymorphisms of Methylenetetrahydrofolate Reductase and Other Enzymes: Metabolic Significance, Risks and Impact on Folate Requirement

1999 • 373 citations

The principles of human biochemical genetics

1972 • 347 citations

A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects

1995 • 314 citations

The Pro12Ala Polymorphism in PPAR γ2 May Confer Resistance to Type 2 Diabetes

2000 • 274 citations

Single and Combined Prothrombotic Factors in Patients With Idiopathic Venous Thromboembolism

1999 • 258 citations

Tests and estimates of allelic association in complex inheritance

1998 • 250 citations

Homocysteine and Risk of Premature Coronary Heart Disease

1996 • 242 citations

The Pro12→Ala Substitution in PPAR-γ Is Associated With Resistance to Development of Diabetes in the General Population

2001 • 241 citations

Impact of the Peroxisome Proliferator Activated Receptor γ2 Pro12Ala polymorphism on adiposity, lipids and non-insulin-dependent diabetes mellitus

2000 • 177 citations

Pro12Ala substitution in the peroxisome proliferator-activated receptor-gamma2 is not associated with type 2 diabetes.

1999 • 167 citations

Thermolabile Methylenetetrahydrofolate Reductase and Factor V Leiden in the Risk of Deep-Vein Thrombosis

1998 • 160 citations

Lack of an association between apolipoprotein E ϵ4 and Alzheimer's disease in elderly nigerians

1995 • 159 citations

Pro12Ala Missense Mutation of the Peroxisome Proliferator Activated Receptor γ and Diabetes Mellitus

1999 • 157 citations

The Methylenetetrahydrofolate Reductase TT677 Genotype Is Associated with Venous Thrombosis Independently of the Coexistence of the FV Leiden and the Prothrombin

1998 • 141 citations

The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes

2000 • 137 citations

The Peroxisome Poliferator–Activated Receptor-γ2 Pro12Ala Variant

2001 • 133 citations

Susceptibility to spina bifida; an association study of five candidate genes

1998 • 116 citations

Prevalence of the prothrombin 20210 G-to-A variant in blacks: Infants, patients with venous thrombosis, patients with myocardial infarction, and control subjects

1998 • 62 citations

Molecular mechanisms of activated protein C resistance. Properties of factor V isolated from an individual with homozygosity for the Arg506 to Gln mutation in the factor V gene

1996 • 55 citations

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