Monthly Archives: August 2017

Variants in the fetal genome near FLT1 are associated with risk of PREECLAMPSI

I’ve always found preeclampsia to be a fascinating clinical problem. Preeclampsia is a serious disorder during pregnancy in which: [a] systolic blood pressure (SBP) is >140 mm Hg and/or diastolic blood pressure (DBP) >90 mm Hg –– on two occasions … Continue reading

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Variation in CYP2R1 confers a large-effect on vitamin D levels and risk of multiple sclerosis

Two colleagues on the GEITP mailing list offered these (similar) thoughts as to “why vit D deficiency cannot be considered by itself –– without taking into account two other fat-soluble vitamins.” From: Sent: Friday, August 11, 2017 12:41 PM Subject: … Continue reading

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Identification of liver-specific enhancer-promoter activity in the 3′ untranslated region of the wild-type AAV2 genome ..!!!

Adeno-associated virus-2 (AAV2) is a small virus known to infect a majority of humans (causing sore throat, upper respiratory diseases), and at least some of the other primate species. AAVs have not been believed to cause disease –– which is … Continue reading

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Low-frequency synonymous coding variation in CYP2R1 confers a large-effect on vitamin D levels and risk of multiple sclerosis

From a practicing physician –– who wishes to share some fundamental information about vit D deficiency, but remain anonymous: Concerning vitamin D deficiency in the U.S. population, consider these facts: 1) The prevalence of vitamin D deficiency in our population … Continue reading

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Computational prediction of POSITION EFFECTS of apparently balanced human chromosomal rearrangements

The haploid genome can be envisioned like a string of pearls –– linear arrays on each chromosome (humans having 22 autosomes plus the X and Y sex chromosomes). Several decades back, it was found that a foreign segment of DNA … Continue reading

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Therapeutic concentrations of antidepressants inhibit pancreatic beta-cell function via inhibition of mitochondrial complex

Controversial studies have suggested that moderate to high daily doses of certain antidepressants for more than 2 years are associated with a substantially higher risk for type-2 diabetes (T2D), whereas other studies have shown to such correlation. The increased risk … Continue reading

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Modifier genes, network resilience, and the genetics of health

For any human disease –– whether it’s “a Mendelian disorder” such as phenylketonuria (PKU) or “a complex disease” such as type-2 diabetes (T2D) –– each patient exhibits a different onset, severity and clinical course. For example, PKU can present itself … Continue reading

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Studying glioblastoma cell culture vs tumor in the patient — showed striking differences

Glioblastoma is the most deadly form of brain cancer in adults. This cancer is responsible for more than 12,000 brain-tumor diagnoses in the U.S each year. Extensive characterization of its molecular basis, largely made possible recently, through massive genomic studies … Continue reading

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Scientists Edit a Dangerous Mutation from Genes in Human Embryos

The day of “editing severe mutations out of the fertilized egg (zygote)” is here. The CRISPR/Cas9 editing must be done before the zygote divides beyond the eight- or sixteen-cell stage (after which differentiation into specialized cell types and tissues begins). … Continue reading

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Ssubstantially higher levels of certain cytokines are found in patients with chronic fatigue syndrome

This [below] is an article from ABC News, and this topic fits perfectly within the ‘gene-environment interactions’ theme. When I was editor (1994-2oo6) of the Center for Environmental Genetics (CEG) newsletter “Interface”, we invited readers (many of whom were lay … Continue reading

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