HIV-1 antibody serum negativity with urine positivity

7 individuals who were negative for HIV-1 antibody in a licensed serum enzyme immunoassay (EIA) were positive in a urine EIA and western blot (WB). Follow-up in individuals by use of a cell-mediated immune response showed 1 positive and 1 negative for HIV-1 peptide reactivity. In a second study, 4 out of 5 subjects positive by urine EIA and indeterminate or negative by serum WB were HIV-1 peptide positive in the cell-mediated immune test. Comparison of cell-mediated responses with urine antibody responses may help to resolve discrepant HIV-1 results. Lancet 1993; 342: 1458-59

Individual variation in body odor

Humans produce numerous volatile compounds from different areas of the body, either as a direct result of metabolic processes or indirectly via metabolismof resident microflora. Body odors vary between individuals, partly due to genetic differences, but odors of the same individual also vary across time due to environmental influences. We discuss how at least part of the genetic influence appears to be related to certain personality characteristics and to sexual orientation. We then review the current state of the art in terms of intraindividual variation, including effects of intrinsic factors, such as hormonal influences on body odor and environmental factors, namely effects of diet and certain diseases. Some of these changes can be perceived by other individuals and might therefore provide social cues of current motivational, nutritional, and health status. Finally, we discuss how specific odor profiles associated with certain infectious diseases and metabolic disorders can be used as a cheap and efficient medical screening tool

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation–based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation–based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions