Feng, Xiaodong_ Xie, Hong-Guang - Applying pharmacogenomics in therapeutics-CRC Press (2016)

Pharmacogenomics and Alternative Medicine
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CAM-related pharmacogenomic research based on knowledge from vitamin, minerals,
and trace elements, as well as other aspects of traditional herbal medicine.
VITAMINS
Vitamins are a collective name for a group of trace organic substances, which are
necessary and important for humans and animals to maintain normal physiological
function, metabolism, development, and growth. Although all vitamins vary in their
chemical structures and biochemical effects, they have some shared features as summarized:
(1) most vitamins in food are precursors of their own; (2) vitamins are not
a component of the organ, tissue, or cell, and do not produce any energy. The major
role of vitamins is to regulate metabolism; (3) the human body can neither synthesize
most vitamins nor produce sufficient amounts of certain vitamins. Most vitamins
are obtained from food, 3 but the amount of vitamins that humans require are small. 4
Daily amount is often measured as milligrams (mg) or micrograms (μg). However,
if vitamins in the body are deficient or lacking, human health status can be affected,
or even threatened, in some cases.
Human genetic polymorphisms that affect the fate of vitamins in the body may
affect vitamin effects or disease treatment (see Tables 10.1 and 10.2).
Case Report
A girl was born full term, and her antenatal and postnatal histories were unremarkable.
Intermittent limb tremor presented at three years, followed by seizures
six months later. The epileptic seizures occurred every two months. During seizures,
TABLE 10.1
Effects of Genetic Polymorphisms on Lipid-Soluble Vitamins
Vitamin Gene Polymorphism
Effects of Genetic
Polymorphisms on Vitamins
D CYP3A4 1α 25(OH) 2 D 3 : Enhances the
transcription of CYP3A4-deficient
25-hydroxylase and impaired
metabolism of vitamin D
CYP2R1 rs10500804
rs11023380
rs2060793
Disease
Rickets,
osteomalacia,
osteoporosis
E CYP4F2 rs2108622 Increased circulating α-tocopherol Prostate cancer
K
SCARB1 rs11057830 Plasma concentrations of
α-tocopherol affected
APOE
E3/4
E4/4
APOE4 allele (E3/4 + E4/4):
Phylloquinone concentrations; higher
bioavailability of vitamin K to bone
VKORC1 Rs9923231 Carriers of the G allele at rs9923231
decreased INR value.
Easy bleeding,
anemia