You may have noticed there are a number of genetic testing reports now available. So how can they assist your personal health?
Your genes provide instructions (or codes) that affect specific proteins; these include enzymes, transporters and receptors, substances that build, regulate and maintain health. A variation to a gene may alter these proteins and the ways that cells function. Because of this, variations in DNA can affect the way that nutrients are absorbed, the kind of nutrients you require and the transport of nutrients into and out of cells. Similarly, diet, food components and lifestyle choices can also affect the way that genes function. 1,2
Even if gene variations, known as single nucleotide polymorphisms, or SNPs, exist, they may not always affect how the gene functions. So, it’s important that genetic testing and reporting is supported with quality research.
An SNP report provides an opportunity to understand specific individual needs regarding nutrients, diet and lifestyle choices to optimise your health. Some of these needs may include the requirement for active forms of nutrients – i.e. nutrients that are already in the form that can be used immediately by the body and don’t need to be changed by the body or activated.
Some examples of SNPs that impact nutrients include the:
- MTHFR polymorphism, which is an enzyme involved with folate metabolism (a type of vitamin B)
- VDR polymorphism which plays a role in vitamin D metabolism?
- NQ01 polymorphism which helps conversion to CoQ10 (a type of antioxidant)
- PEMT polymorphism which is involved with phosphatidyl choline production (a substance involved in fat metabolism).
Having some of these SNPs may suggest more active forms of those nutrients are required or a diet and lifestyle change that may assist with absorption of certain nutrients.
Your SNP report will also provide helpful information that can help to guide and prioritise what further testing may be required.
Generally, most of the population will have SNPs, and we know that some SNPs are more prevalent in some locations or ethnicities than others. We know, for example, that 10% of the general population may have one or more MTHFR SNPs and approximately 7.5% of the Australian Caucasian population have a homozygous 677C>T MTHFR polymorphism.3,4 This gene may impact the metabolism of folate; folate is essential for DNA replication and many other processes in the body. We also know that folate (known as folic acid in supplement form) is important to prevent neural tube defects and support optimal pregnancy outcomes. Therefore, understanding your SNPs for preventive and optimal health is important.
SNPs may not only affect metabolism of nutrients and how well an individual may detoxify chemicals whether from the environment, hormones in the body and even pharmaceutical medications. SNPs may also impact the manufacture of neurotransmitters that affect mood and brain function. Therefore, SNP reports can be helpful for fertility, hormone health, mood and detoxification concerns.
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1. Nagwa E.A. Gaboon. “Nutritional genomics and personalised diet” The Egyptian Journal of Medical Human Genetics. 2011 12, 1-7. https://www.sciencedirect.com/science/article/pii/S1110863011000024
2. Ayman Zaky Elsamanoudy, bMoustafa Ahmed MohamedNeamat-Allah, bFatma Azzahra? Hisham Mohammad, bMohammedHassanien, acHoda AhmedNadab. “The role of nutrition related genes and nutrigenetics in understanding the pathogenesis of cancer”. Journal of Microscopy and Ultrastructure. Vol 4, Issue 3 Sept 2016 pp115-122. https://www.sciencedirect.com/science/article/pii/S2213879X16000183
3. Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, López MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet. 2003 Aug;40(8):619-25. http://jmg.bmj.com/content/40/8/619.long
4. Sarah Long and Jack Goldblatt. MTHFR genetic testing: Controversy and clinical implications Volume 45, No.4, April 2016 Pages 237-240. https://www.racgp.org.au/afp/2016/april/mthfr-genetic-testing-controversy-and-clinical-implications/#12