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  • Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22

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    JAMA. 2000; 284(13):1664-1669. doi: 10.1001/jama.284.13.1664
  • Association of Low-Density Lipoprotein Cholesterol–Related Genetic Variants With Aortic Valve Calcium and Incident Aortic Stenosis

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    JAMA. 2014; 312(17):1764-1771. doi: 10.1001/jama.2014.13959

    This Mendelian randomization study reports that genetic predisposition to elevated low-density lipoprotein cholesterol was associated with presence of aortic valve calcium and incidence of aortic stenosis.

  • Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

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    JAMA. 2006; 296(6):661-670. doi: 10.1001/jama.296.6.661
  • Relationship Between Parental Trinucleotide GCT Repeat Length and Severity of Myotonic Dystrophy in Offspring

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    JAMA. 1993; 269(15):1960-1965. doi: 10.1001/jama.1993.03500150072029
  • Variants in the ATP-Binding Cassette Transporter ( ABCA7 ), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans

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    JAMA. 2013; 309(14):1483-1492. doi: 10.1001/jama.2013.2973
    To identify genetic variants associated with late-onset Alzheimer disease in African Americans, Reitz and coauthors performed a genome-wide association study using data sets representing 5896 African Americans 60 years or older. Nussbaum provides comment in the related Editorial.
  • Neurofibromatosis

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    JAMA. 1987; 258(6):847-847. doi: 10.1001/jama.1987.03400060123050
  • Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

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    JAMA. 2016; 316(13):1383-1391. doi: 10.1001/jama.2016.14568

    This meta-analysis of genetic association studies summarizes associations between molecular targets of lipid-lowering therapy and risk of type 2 diabetes and coronary artery disease.

  • Association of Genetic Variants Related to Serum Calcium Levels With Coronary Artery Disease and Myocardial Infarction

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    JAMA. 2017; 318(4):371-380. doi: 10.1001/jama.2017.8981

    This analysis evaluates the potential causal association between genetic variants related to elevated serum calcium levels and risk of coronary artery disease and myocardial infarction using mendelian randomization.

  • BRCA1 Sequence Analysis in Women at High Risk for Susceptibility Mutations: Risk Factor Analysis and Implications for Genetic Testing

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    JAMA. 1997; 278(15):1242-1250. doi: 10.1001/jama.1997.03550150046034
  • Association of Genetic Variants Related to CETP Inhibitors and Statins With Lipoprotein Levels and Cardiovascular Risk

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    JAMA. 2017; 318(10):947-956. doi: 10.1001/jama.2017.11467

    This mendelian randomization analysis of individual-participant data estimated the association between changes in levels of low-density lipoprotein cholesterol (and other lipoproteins) and risk of cardiovascular events due to CETP variants, alone and in combination with HMGCR variants.

  • Evidence for X-Linkage in the Transmission of Manic-Depressive Illness

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    JAMA. 1972; 222(13):1624-1627. doi: 10.1001/jama.1972.03210130016004
  • Evidence for an Alzheimer Disease Susceptibility Locus on Chromosome 12 and for Further Locus Heterogeneity

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    JAMA. 1998; 280(7):614-618. doi: 10.1001/jama.280.7.614
  • Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

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    JAMA. 2010; 303(18):1832-1840. doi: 10.1001/jama.2010.574
  • Genetic Studies on Chromosome 12 in Late-Onset Alzheimer Disease

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    JAMA. 1998; 280(7):619-622. doi: 10.1001/jama.280.7.619
  • Complete Genomic Screen in Parkinson Disease: Evidence for Multiple Genes

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    JAMA. 2001; 286(18):2239-2244. doi: 10.1001/jama.286.18.2239
  • Association of an Inherited Genetic Variant With Vincristine-Related Peripheral Neuropathy in Children With Acute Lymphoblastic Leukemia

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    JAMA. 2015; 313(8):815-823. doi: 10.1001/jama.2015.0894

    This genome-wide association study performed among children with acute lymphoblastic leukemia (ALL) found that an inherited polymorphism in the promoter region of CEP72 was associated with increased risk and severity of vincristine-related peripheral neuropathy.

  • Genetic Variants Associated With Phenytoin-Related Severe Cutaneous Adverse Reactions

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    JAMA. 2014; 312(5):525-534. doi: 10.1001/jama.2014.7859

    Chung and coauthors conducted a case-control study in populations from Taiwan, Japan, and Malaysia and a genome-wide association study to investigate the genetic factors associated with phenytoin-related severe cutaneous adverse reactions.

  • Identification of Genetic Loci Associated With Helicobacter pylori Serologic Status

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    JAMA. 2013; 309(18):1912-1920. doi: 10.1001/jama.2013.4350
    To identify genetic loci associated with H pylori seroprevalence and determine the pathophysiological role of these loci, Mayerle and coauthors performed a metaanalysis of genome-wide association studies conducted in population-based cohorts, with subsequent whole-blood transcriptome analyses conducted in independent cohorts from the same populations. El-Omar provides comment in the related Editorial.
  • How to Use an Article About Genetic Association: A: Background Concepts

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    JAMA. 2009; 301(1):74-81. doi: 10.1001/jama.2008.901
  • Genes Involved in the Pathogenesis of Primary Open-Angle Glaucoma

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    JAMA. 2007; 297(3):306-307. doi: 10.1001/jama.297.3.306