In this study, we assess 34 of the most replicated genetic associations for Alzheimer's disease (AD) using data generated on Affymetrix SNP 6.0 arrays and imputed at over 5.7 million markers from a unique cohort of over 1600 neuropathologically defined AD cases and controls (1019 cases and 591 controls). Testing the top genes from the AlzGene meta-analysis, we confirm the well-known association with APOE single nucleotide polymorphisms (SNPs), the CLU, PICALM and CR1 SNPs recently implicated in unusually large data sets, and previously implicated CST3 and ACE SNPs. In the cases of CLU, PICALM and CR1, as well as in APOE, the odds ratios we find are slightly larger than those previously reported in clinical samples, consistent with what we believe to be more accurate classification of disease in the clinically characterized and neuropathologically confirmed AD cases and controls.

No abstract

The whole-body turnover of cupric chloride (67Cu) was (24:385-390, 1971)

COPD is a common, preventable, and treatable disease characterized by persistent airflow obstruction associated with enhanced inflammation in the airways and the lung in response to noxious particles or gases. Clinical history and pulmonary function testing are necessary for accurate diagnosis. While exposure to tobacco smoke remains a common cause, other etiologies and underlying genetic predisposition play significant roles. Treatment options are numerous and should be individualized based on symptoms and exacerbation frequency.

1. Studies with 67Cu were carried out on thirteen patients with Wilson's disease (WD), twenty-nine of their parents and siblings, thirteen normal subjects and seven subjects with cirrhosis of the liver. Control subjects and five siblings of patients with WD generally excreted more than 15% of the dose of 67Cu in their 5-day stool collections, had normal liverlthigh radioactivity ratio patterns, and had whole-body biological 67Cu half-times of less than 40 days. The remaining twenty-four family members, including all twelve parents, and the patients with WD generally excreted less than 15% of the dose of 67Cu in their Sday stool collections, had abnormal liver/ thigh radioactivity ratio patterns, and had whole-body biological 67Cu half-times greater than 40 days.2. The data demonstrate a normal 67Cu biological half-time of 28 days and faecal excretion of 22% in 5 days, and suggest a decreased biliary excretion of copper in both homozygous and heterozygous individuals with WD.