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  • findings
  • FINDINGS: 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. (yonsei.ac.kr)
  • On the basis of prior findings and replication studies thus-far completed, almost all of these signals reflect genuine susceptibility effects. (nature.com)
  • proteins
  • In addition, the gp-340 I protein appeared over represented in subjects positive for Db, an allelic acidic PRP variant associated with caries, and subjects positive for both gp-340 I and Db tended to experience more caries than those negative for both proteins. (springer.com)
  • Here, we have used a newer genotyping array to characterize less common variants, including those likely to impact the function of encoded proteins, in a combined cohort of 1393 AD cases and 8141 control subjects without AD. (plos.org)
  • genotype
  • Apolipoprotein E genotype in patients with Alzheimer's disease: implications for the risk of dementia among relatives. (phgfoundation.org)
  • These expression-associated SNPs (exSNPs) have already been utilized to explain some results of GWAS for diseases, but interpretation of the data is handicapped by low reproducibility of the genotype-expression relationships. (biomedcentral.com)
  • outcomes
  • Due to the active role of NLRs in regulating pro-inflammatory signals and recruiting the adaptive arm of the immune system, dysregulation of microbial sensing has been reported to influence disease outcomes and tumorigenesis ( 10 ). (frontiersin.org)
  • replication
  • Cavanaugh J. International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16. (springer.com)
  • autoinflammatory
  • PFAPA has recently been defined as a non-hereditary autoinflammatory disease characterized by Periodic episodes of high Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis. (nii.ac.jp)
  • Autoinflammatory diseases are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen-specific T cells. (nii.ac.jp)
  • Consortium
  • Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. (yonsei.ac.kr)
  • Support for centralized calling of the exome chip was provided by Building on GWAS for NHLBI-diseases: the U.S. CHARGE consortium through the National Institutes of Health (NIH, https://www.nih.gov ) American Recovery and Reinvestment Act of 2009 (ARRA) (5RC2HL102419). (plos.org)
  • The CHARGE consortium is a founding component of the Alzheimer's Disease Sequencing Project, and receives sequencing and analysis support through the grants from NIH: U01-AG049506, U01-AG049505, and U54-HG003273. (plos.org)
  • patients
  • At the Clinic, he worked on innovating new treatments for patients suffering from neurologic disease by refining diagnosis and identifying biomarkers of early and progressive disease. (vchri.ca)
  • More recently, earlier diagnosis and advances in surgical techniques have resulted in decreased morbidity and mortality in patients with Hirschsprung disease. (medscape.com)
  • In patients with Hirschsprung disease, both myenteric and submucosal plexuses are absent. (medscape.com)
  • Patients are commonly fatigued, which is often related to the pain, inflammation, and anemia that accompany disease activity. (medscape.com)
  • In 10%-20% of cases, patients present with extraintestinal manifestations, including arthritis, uveitis, or liver disease (see Complications ). (medscape.com)
  • Fifty percent of patients with Crohn disease may present with perianal disease (eg, fistulas, abscesses). (medscape.com)
  • Patients with Crohn disease may develop a mass in the right lower quadrant. (medscape.com)
  • Perianal complications (eg, perianal fissures or fistulas, abscesses, rectal prolapse) may be observed in up to 90% of patients with this disease. (medscape.com)
  • differences
  • Inter-ethnic differences exist in the distribution of DHFR variant genotypes, and this can lead to variability in therapeutic response to DHFR substrates. (omicsonline.org)
  • To validate NLRX1 effects on IEC metabolism mediate gut-microbiome interactions, restoration of WT glutamine metabolic profiles through either exogenous glutamine supplementation or administration of 6-diazo-5-oxo-l-norleucine abrogates differences in inflammation, microbiome, and overall disease severity in Nlrx1 −/− mice. (frontiersin.org)
  • analysis
  • This is the first successful analysis of whole genome sequence from a family that revealed a new gene implicated in KD susceptibility," said senior author Jane C. Burns, MD, professor and director of the Kawasaki Disease Research Center at UC San Diego School of Medicine and Rady Children's Hospital-San Diego. (ucsd.edu)
  • Despite their apparent increased susceptibility, children of African-American descent have been excluded from previous KD genetic analysis," the authors wrote. (ucsd.edu)
  • The International Journal of Tuberculosis and Lung Disease publishes articles on all aspects of lung health, including public health-related issues such as training programmes, cost-benefit analysis, legislation, epidemiology, intervention studies and health systems research. (ingentaconnect.com)