What is a “SNP” and Why Should You Care?

All individuals – healthy or not – can benefit from practices that regulate enzymatic activity to support methylation and sulfation processes.

A SNP (pronounced "snip") is a single nucleotide polymorphism, or a genetic mutation involving just one unit of the DNA sequence. SNPs are the most common type of genetic variation among people. Each SNP is a variation of a single nucleotide . . . for example; cytosine (C) may replace the usual thymine (T) in a particular location on the DNA sequence. These two variations are called alleles. The study of SNPs is merely in its infancy. There are about 10 million SNPs in the human genome.

Certain SNPs have been identified that affect the enzymes that are critical to the body's detoxification processes. Central to detoxification in the body are two chemical reactions: methylation and sulfation. Methylation is the transfer of a methyl group – a carbon atom linked to 3 hydrogen atoms (CH3) – from one molecule to another. It occurs billions of times per second and is the means by which the body repairs its DNA, controls homocysteine levels, and recycles molecules necessary to detoxification. Sulfation is the process by which sulfate groups are attached to chemicals called phenols to enable their elimination. When phenolic compounds build up in the body due to an impaired ability to handle them, neurotransmitter function is diminished. Effects include impaired detoxification of heavy metals and environmental toxins, diminished digestive enzymes, limited levels of a hormone that regulates socialization, and leaky gut. Sulfation also produces glutathione, a critical antioxidant.

Methylation and sulfation processes are driven by enzymatic activity. Certain SNPs have been identified that either reduce or upregulate the activity of particular enzymes related to methylation and sulfation, thus compromising an individual's methylation and sulfation capacity. We are interested in these SNPs in part because they may make an individual more vulnerable to environmental toxins and toxicants, and certain nutrient deficiencies. All individuals – healthy or not – can benefit from practices that regulate enzymatic activity to support methylation and sulfation processes.

What does this mean to you and your health? Here are some tips for identifying and compensating for your own genetic SNPs:

1)     For about $100, you can submit a saliva sample and discover your own unique SNP profile at 23ndme.com

2)     Certain SNPs are associated with a higher risk of certain diseases, specifically Alzheimer's, heart disease, and ASD. If you already have these risk factors in your family history, you can take specific action to prevent them

3)     Certain SNPs are associated with an inability to process or utilize particular vitamins. For example, the MTHFR mutation, which affects 10-15% of individuals of European descent, is associated with an inability to process B-vitamins. Supplementation with a special methylated form of B-vitamin, which is widely available, can help to compensate for this SNP

4)     Other common vitamins and supplements that can help to boost the enzymatic activity that is reduced due to SNP status are glutathione, CoQ10, and probiotics

Sources

1.     Hyman, Mark, MD: "Maximizing Methylation: The Key to Healthy Aging" (drhyman.com blog, 2/8/2011), available at http://drhyman.com/blog/2011/02/08/maximizing-methylation-the-key-to-healthy-aging-2/

2.     Newman, Larry: "What You Should Know – Facts About Methylation, Sulfation, and Oxidative Stress" (kirkmanlabs.com blog, 11/10/2009), available at http://blogs.kirkmanlabs.com/blog/2009/11/10/what-you-should-know-facts-about-methylation-sulfation-and-oxidative-stress/

3.     Hyman, Mark, MD: "Autism: Is It All in the Head?" (Journal of Alternative Therapies in Health and Medicine, Vol 14 No 6: Nov/Dec 2008, p12-18), available at http://drhyman.com/downloads/Autism.pdf

4.     Bowers, Katherine, et al: "Glutathione Pathway Gene Variation and Risk of Autism Spectrum Disorders" (J Neurodev Disord, June 2011: p132-143), available at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188290/

5.     Kern, Janet K, et al: "Thimerosal Exposure and the Role of Sulfation Chemistry and Thiol Availability in Autism" (Int K Environ Res Public Health, Aug 2013, p3771-3800), available at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774468/

6.     Japanese Single Nucleotide Polymorphisms Database, http://snp.ims.u-tokyo.ac.jp; and http://snp.ims.u-tokyo.ac.jp/cgi-bin/list_gwas.cgi?srt=disease_trait&pg=1&column=data_origin&value=NHGRI

7.     NCBI database of SNPs, http://www.ncbi.nlm.nih.gov/SNP/; and http://www.ncbi.nlm.nih.gov/books/NBK21088/

8.     SNPedia; http://www.snpedia.com/index.php/SNPedia:FAQ (Note: This is a wiki site; information is open-sourced so be cautious of the reliability of information from this resource. Cautions aside, it offers a broad catalogue of SNPs with simple explanations.)

9.     Wikigenes Collaborative Publishing; https://www.wikigenes.org: Another wiki site with a vast database of articles searchable by keyword; not a resource in itself so much as a good place to link to resources on specific gene-related topics

10.  Yasko, Amy, (PhD, CTN, NHD, AMD, HHP, FAAIM): "Autism: Pathways to Recovery" (Neurological Research Institute 2009), available at http://dramyyasko.com/wp-content/uploads/2012/01/Autism-Pathways-to-Recovery.pdf

11.  "Methylation Maps": Some illustrative diagrams can be found at http://www.heartfixer.com/AMRI-Nutrigenomics.htm