38 research outputs found

    New insights into the genetic etiology of Alzheimer's disease and related dementias

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    Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

    Analysis of shared heritability in common disorders of the brain

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    Paroxysmal Cerebral Disorder

    Apolipoprotein H (beta-2-glycoprotein I) polymorphism in Asians.

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    Human Biology644617-62

    Apolipoprotein H (Beta-2-Glycoprotein I) Polymorphism in Asians

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    Apolipoprotein H (APOH) (beta-2-glycoprotein I) polymorphism has been studied in 1159 Asian s. The sample included 872 Chinese, 179 Asiatic Indians (Dravidian), 91 Filipinos,and 17 Malays. APOH polymorphism was determined by isoelectric focusing of sera in thin-layer polyacrylamide gels containing 3 M urea followed by immunoblotting. The frequencies of the three alleles— APOH*l, APOH*2, and APOH*3--were found to be 0.031, 0.900, and 0.069 in the Chinese; 0.061, 0.866, and 0.073 in the Dravidian Indians; 0.055, 0.923, and 0.022 in the Filipinos; and 0.088, 0.882, and 0.029 in the Malays. The phenotypic distribution was at Hardy -Weinberg equilibrium in all the populations

    The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore

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    10.1007/s00439-003-1040-3Human Genetics1142186-191HUGE
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