Jonathan L. Haines
A5020266650- Genetic Associations and Epidemiology
- Alzheimer's disease research and treatments
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Bioinformatics and Genomic Networks
- Genomics and Rare Diseases
- Retinal Imaging and Analysis
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Dementia and Cognitive Impairment Research
- Folate and B Vitamins Research
- Genomic variations and chromosomal abnormalities
- Neurological diseases and metabolism
- Genetic Mapping and Diversity in Plants and Animals
- Mitochondrial Function and Pathology
- Retinal Development and Disorders
- Nuclear Receptors and Signaling
- Biological Research and Disease Studies
- Multiple Sclerosis Research Studies
- RNA regulation and disease
- Health, Environment, Cognitive Aging
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- RNA Research and Splicing
Case Western Reserve University
2016-2025
University School
2016-2025
Cornell University
2014-2024
John Wiley & Sons (United States)
2021-2024
Hudson Institute
2021-2024
Korea National Institute of Health
2024
University of Miami
2004-2023
Alzheimer’s Disease Neuroimaging Initiative
2023
University of Louisville Hospital
2023
Doheny Eye Institute
2023
Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region strongly associated haplotype two independent data sets. DNA resequencing complement factor H gene within revealed common coding variant, Y402H, that significantly increases risk AMD with odds...
Multiple sclerosis has a clinically significant heritable component. We conducted genomewide association study to identify alleles associated with the risk of multiple sclerosis.We used DNA microarray technology common sequence variants in 931 family trios (consisting an affected child and both parents) tested them for association. For replication, we genotyped another 609 trios, 2322 case subjects, 789 control subjects genotyping data from two external sets. A joint analysis 12,360 was...
Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which caused by an autosomal dominant gene defect. The chromosomal location this defective has discovered using genetic linkage to DNA markers on chromosome 21. localization 21 provides explanation for occurrence disease-like pathology Down syndrome. Isolation characterization at locus may yield new insights into nature defect causing familial possibly, etiology all...
The potential for genome-wide association studies to relate phenotypes specific genetic variation is greatly increased when data can be combined or compared across multiple studies. To facilitate replication and validation studies, RTI International (Research Triangle Park, North Carolina) the National Human Genome Research Institute (Bethesda, Maryland) are collaborating on consensus measures Phenotypes eXposures (PhenX) project. goal of PhenX identify 15 high-priority, well-established,...
Familial pulmonary fibrosis is a heterogeneous group of interstitial lung diseases unknown cause that associated with multiple pathologic subsets. Mutations in the surfactant protein C (SP-C) gene (SFTPC) are familial desquamative and nonspecific pneumonitis. Genetic studies usual pneumonitis have been inconclusive. Using candidate approach, we found heterozygous exon 5 + 128 T→A transversion SFTPC large kindred, including adults children cellular The mutation predicted to substitute...
We executed a genome-wide association scan for age-related macular degeneration (AMD) in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH ( P < 10 −75 ), ARMS2 −59 C2/CFB −20 C3 −9 CFI −6 ). compared our top findings with the Tufts/Massachusetts General Hospital study of advanced (821 cases, 1,709 controls) genotyped 30 promising markers additional individuals (up to 7,749 4,625 controls). With these data, we identified locus TIMP3 (overall = 1.1 × −11...
<b><i>Objectives:</i></b> It has been suggested in some studies that head injury is a risk factor for AD, and this heightened among carriers of the <i>APOE</i>-ε4 allele. We examined effects <i>APOE</i> genotype on AD large family study. <b><i>Subjects:</i></b> A total 2,233 probands who met criteria probable or definite their 14,668 first-degree members (4,465 parents, 7,694 siblings, 2,509 spouses) were ascertained at 13 centers United States, Canada, Germany participating MIRAGE...
<b>Objective: </b> To explore the impact of apoE-4 on Alzheimer9s disease (AD) and its age at onset. Design: A genetic linkage study using affected relative pairs, predominantly siblings. Setting: Three academic medical centers ascertained subjects from memory disorder clinics, nursing homes, local community. Subjects: 310 families including 679 with AD by NINCDS/ADRDA and/or Khachaturian criteria 231 unaffected subjects. Outcome measure: ApoE genotype. Analytic methods: Association,...
Parkinson disease (PD) is a chronic neurodegenerative disorder with cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These implicated several genes as PD risk loci strong, but not significant, associations. In this study, we combined data from two previously published GWAS Caucasian subjects our 604 cases and 619 controls for joint analysis sample size 1752 1745...
Objectives: To determine whether genotypes at CLU, PICALM, and CR1 confer risk for Alzheimer disease (AD) AD associated with these genes is influenced by apolipoprotein E (APOE) genotypes.
Amyotrophic lateral sclerosis is a progressive neurologic disorder that commonly results in paralysis and death. Despite more than century of research, no cause of, cure for, or means preventing this has been found. In minority cases, it familial inherited as an autosomal dominant trait with age-dependent penetrance. contrast to the sporadic form amyotrophic sclerosis, provides opportunity use molecular genetic techniques localize defect. Furthermore, such studies have potential discover...