Autophagy Genes

Autophagy is a general term for cellular pathways that move something from the cytoplasm of the cell into the lysosome for degradation. The term comes from the Greek ‘auto’ (self) and ‘-phagy’ (to eat).  So when you see articles touting ‘autophagy diets’ as the latest and greatest for longevity or beautiful skin, realize that the term is just a general one that applies to a cellular process that goes on all the time in our cells.

Let me see if I can explain a bit of the biology behind this, and then I’ll go into how your genes play a role in autophagy.

Back to high school science class:  Inside almost every cell in the body is an organelle called a lysosome. It is made up of a membrane that surrounds a bunch of different enzymes for breaking down proteins.  This is a way our cells can clean up after themselves, and also how they get rid of foreign invaders like bacteria. Continue reading “Autophagy Genes”

HLA-B27: Genetic Variants That Increase Susceptibility to Autoimmune Diseases

Our immune system does an awesome job, most of the time, at fighting off pathogenic bacteria and viruses. But to fight off these pathogens, the body needs to know that they are the bad guys.  One part of our immune system is the major histocompatibility complex, also known as HLA, or human leukocyte antigens. The HLA genes produce proteins that, as part of our innate immune system, help our body determine what is a foreign invader that needs to be attacked.

There are many different HLA serotypes that people can have, giving us all slightly different strengths and weaknesses against microbial diseases. But along with attacking foreign invaders, a handful of HLA types also increase the susceptibility to autoimmune diseases, where the body attacks its own cells. Continue reading “HLA-B27: Genetic Variants That Increase Susceptibility to Autoimmune Diseases”

Increased Inflammation and IL-17A Genetic Variants

Inflammation (1)
Genes that lead you to be more prone to inflammatory diseases such as IBD and rheumatoid arthritis.

In looking into the effects of emulsifiers on our gut, I came across quite a few genetic variants that are involved in increased inflammation and increased risk of inflammatory bowel diseases.

IL-17A is a pro-inflammatory part of our immune system that, while necessary in times of injury or pathogenic infection, can cause problems if it is overactive.[ref]  It is implicated in several autoimmune diseases including psoriasis and asthma.  Genetic variants that increase IL-17A are a risk factor for IBD, rheumatoid arthritis, bronchitis severity, gastric cancer, and more.

IL-17A is also implicated in celiac disease, with increased expression of IL-17A found in the intestinal mucosa of Celiac patients.  Gluten sensitivity, though, was not found to increase IL-17A.[ref] [ref]

IL-17A Genetic Variants:

There are genetic variations of IL-17A that can cause it to be either more active than normal (increasing risk of autoimmune/inflammatory conditions) or less active than normal (protective against autoimmune/inflammatory conditions).  As is the case with most genetic variants, diet and environment interact with genetics in the development of chronic diseases.

rs2275913 – A is the minor allele and is shown in studies to increase the risk of autoimmune diseases, periodontal disease, gastric cancer, and inflammatory bowel diseases [ref] [ref] [ref] [ref] [ref]  There are quite a few studies on this variant in different populations showing the increase in IL-17A and an increased risk of inflammatory conditions.   The flip side of this is that the overactivity may be protective against infective diseases like tuberculosis.[ref]

Check your 23andMe results for rs2275913: (v.4 and v.5 )

  • AA: increased risk of inflammatory conditions: autoimmune, periodontal, inflammatory bowel
  • AG: somewhat increased risk of inflammatory conditions.
  • GG: normal

rs8193037  – A is the minor allele with a decreased risk of ulcerative colitis [ref], decreased risk of coronary artery disease [ref] and lower levels of IL-17A [ref]

Check your 23andMe results for rs8193037: (v. 4 only)

  • AA: possibly protective against inflammatory conditions, decreased IL-17A
  • AG:  possibly protective against inflammatory conditions, decreased IL-17A
  • GG: normal

rs3819025 – A is the minor allele, found to be protective against autoimmune thyroid diseases (Chinese population). [ref]

Check your 23andMe results for rs3819025: (v.4 only)

  • AA: possibly protective against inflammatory conditions
  • AG:  possibly protective against inflammatory conditions
  • GG: normal


Diet and Supplements:

Curcumin (in an animal study) was found to decrease IL-17.  The spice turmeric is high in curcumin, or you can find curcumin as a supplement.

Vitamin D (in vitro study) may decrease high IL-17 levels.  Get out in the sunshine, or look into supplementing with vitamin D (do a blood test first to determine your vitamin D status).  Be sure to read the labels on the vitamin D supplement and go for a vitamin D3 without soybean or cottonseed oil.

More to Read:

IL-17A variants don’t act alone in increasing susceptibility to inflammatory conditions; environmental elements play a role as well.


Originally published 1/16/17, updated 10/11/17.