Keta Joshipura

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The apolipoprotein E (APOE) epsilon4 allele is the best established genetic risk factor for late-onset Alzheimer's disease (LOAD). We conducted genome-wide surveys of 502,627 single-nucleotide polymorphisms (SNPs) to characterize and confirm other LOAD susceptibility genes. In epsilon4 carriers from neuropathologically verified discovery,(More)
It is widely assumed that genetic differences in gene expression underpin much of the difference among individuals and many of the quantitative traits of interest to geneticists. Despite this, there has been little work on genetic variability in human gene expression and almost none in the human brain, because tools for assessing this genetic variability(More)
We recently surveyed the relationship between the human brain transcriptome and genome in a series of neuropathologically normal postmortem samples. We have now analyzed additional samples with a confirmed pathologic diagnosis of late-onset Alzheimer disease (LOAD; final n = 188 controls, 176 cases). Nine percent of the cortical transcripts that we analyzed(More)
Eric M. Reiman,* Jennifer A. Webster, Amanda J. Myers, John Hardy, Travis Dunckley, Victoria L. Zismann, Keta D. Joshipura, John V. Pearson, Diane Hu-Lince, Matthew J. Huentelman, David W. Craig, Keith D. Coon, Winnie S. Liang, RiLee H. Herbert, Thomas Beach, Kristen C. Rohrer, Alice S. Zhao, Doris Leung, Leslie Bryden, Lauren Marlowe, Mona Kaleem, Diego(More)
We recently reported evidence for an association between the individual variation in normal human episodic memory and a common variant of the KIBRA gene, KIBRA rs17070145 (T-allele). Since memory impairment is a cardinal clinical feature of Alzheimer's disease (AD), we investigated the possibility of an association between the KIBRA gene and AD using data(More)
Self-report is an efficient and accepted means of assessing many population characteristics, risk factors, and diseases, but has rarely been used for periodontal disease (chronic periodontitis). The availability of valid self-reported measures of periodontal disease would facilitate epidemiologic studies on a much larger scale, allow for integration of new(More)
BACKGROUND Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have the sporadic form, which may be caused by the interaction of multiple environmental factors and previously unknown genes. METHODS We performed a genomewide association analysis using 766,955 single-nucleotide polymorphisms (SNPs) found in 386 white patients with sporadic(More)
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressively disabling impairments in memory, cognition, and non-cognitive behavioural symptoms. Sporadic AD is multifactorial and genetically complex. While several monogenic mutations cause early-onset AD and gene alleles have been suggested as AD susceptibility factors, the only(More)
BACKGROUND Ascertainment of periodontal disease using self-reported measures would be useful for large epidemiologic studies. This study evaluates whether a combination of self-reported items with established risk factors in a predictive model can assess periodontal disease accurately. METHODS Responses of 246 subjects to a detailed questionnaire were(More)
The fast development in high-throughput single nucleotide polymorphism (SNP) genotyping technology provides unprecedented power for genome-wide SNP association studies. However, inaccurate genotyping can lead to false association between markers and phenotype. We introduce a new SNP genotyping scheme, SNiPer 500K, for Affymetrix 500K GeneChip. SNiPer 500K(More)