Back Pain and Your Genes

For some people, back pain is a daily occurrence that drastically affects their quality of life. For others, it may be an intermittent nagging problem popping up occasionally, often without rhyme or reason.

This article digs into the root causes of back pain and the genetic variants that increase susceptibility. There is no single ‘back pain gene’, but genetics plays a role both in the degeneration of the disc and whether you feel the pain. I’ll finish up with some possible solutions that target specific genes.

What causes back pain?

If you are like me, you may have thought back pain was always a mechanical or structural type of problem — something is broken down in the back that hurts. We talk about it as a mechanical problem: “I was moving a piano yesterday, and I threw out my back.” (Or, more realistically for people that I know: “I was sitting on the couch… reached to grab a blanket and threw out my back.”)

But that isn’t all that there is to the story. It turns out that the majority of people by middle age have disc degeneration. But most don’t have pain from it.  Piano movers can move that piano all day long and be perfectly fine; someone else might step off of a curb wrong – and be in pain for months. And yes, your genes are involved.

Mechanics of your back:

The spine. (Public domain image)

The spinal column is made up of 33 vertebrae, separated by spongy discs.

  • The first 7 vertebrae are the cervical spine (your neck).
  • The next 12 vertebrae are called the thoracic vertebrae (chest area).
  • The lumbar region comes next with 5 vertebrae.
  • The final five vertebrae are called the sacral spine (includes the 4 vertebrae that make up your tailbone).

In between the vertebra are the discs that are made up of connective tissue.  The outer part of the disc is called the anulus fibrosus, which is a tough yet flexible material. The inner part of the disc is called the nucleus pulposus, which is more a gel-like material.

Image showing the structure of vertebrae and disc. (Creative Commons license – Anatomy & Physiology, Connexions website)

The annulus fibrosus is made up of layers of cartilage that is made from type I and type II collagen. The nucleus pulposus consists of loose fibers suspended in a gel. This acts as a shock absorber for the spine. The composition of the extracellular matrix making up the gel includes a couple of types of collagen and specific glycoproteins.

What causes the pain?

There are several different elements at play in back pain:

  • physical disc degeneration
  • the nervous system with pain receptors
  • the inflammatory response

We are all different in our genetic variants in the genes coding for inflammatory cytokines, collagen formation, and autophagy (the cleanup and recycling of cellular waste).

Back pain can come from a combination of those sources – inflammation, altered collagen in the extracellular matrix, and oversensitive pain receptors. These causes work together. For example, inflammatory cytokines can cause the breakdown of the extracellular matrix of the disc. Excessive autophagy can cause cell death which increases inflammatory cytokines.[ref]

Herniated or slipped disc: 

You will often hear people talk about a slipped disc, which brings to mind a terrible picture of a vertebrae off to one side.

A herniated or slipped disc refers to when part of the nucleus pulposus protrudes through the anulus fibrosus (see the picture above).

The terminology is a bit misleading here because nothing is really ‘slipped’, more of a bulging in one direction.

Disc degeneration:  

Lumbar (lower back) disc degeneration is caused both by genetics and by environmental or physical factors. Researchers actually estimate that genetic factors are more important than environmental factors.

A lot of people have disc degeneration – and don’t know it! They have no pain or symptoms.

A study of the MRIs of 98 people without lower back pain and 27 people with lower back pain showed interesting results. Of the people without lower back pain, only 36% had normal discs. That leaves 74% of people with disc degeneration and no pain! Half of those people with disc degeneration had bulging discs and about a quarter had protrusions.[ref]

The question, then, is why does disc degeneration cause pain for some people? Perhaps elevated inflammatory cytokines is the answer.

Interestingly, there is a link to bacterial infection and disc degeneration. Researchers had suspected for more than a decade that a portion of diseased discs was due to chronic infection from Propionibacterium acnes. (This is one of the bacteria that causes acne on the skin.)

Quite a few studies showing that Propionibacterium acnes is present in disc degeneration , but there was always a question of whether the bacteria could have been contaminated from the skin instead of colonizing the disc material. A recent study put this question to rest. It looked at samples of 162 discs from people undergoing surgery for disc herniation. The samples showed that 44% of the discs had bacteria in them, with most of those having the Propionibacterium acnes in them. Furthermore, the samples showed high levels of bacteria and biofilms having formed in the disc material.[ref]

Genetic studies back up this connection.  Some of the same genetic risk variants for acne also increase the risk for disc degeneration.

What is sciatica?

Pain, numbness, and tingling shooting down your hip and leg can be caused by a herniated lumbar disc pressing on the sciatic nerve. Sciatica can be extremely painful and aggravating.

Genetics studies using twins estimate the genetic component of sciatica could be as high as 40%.[ref]


Genetic Variants Associated with Back Pain:

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Below are some of the genetic variants associated with disc disease (bulging, herniated, degeneration, and sciatica). Studies in twins show the ‘heritability’ or genetic component of disc degeneration is between about 34-76%, depending on the location of the degeneration. This is surprisingly high for something most people think of as a problem associated with injury or due to repetitive use.[ref]

Inflammatory Pathways:

Disc degeneration can be induced, at least in part, by inflammatory cytokines. This basically means the body’s inflammatory response is overactive and causes a breakdown of the extracellular matrix within the disc.[ref]

IL1A gene:

The IL1A gene codes for the interleukin 1-alpha cytokine. This gene plays a central role in regulating, or turning up or down, acute inflammatory response.

Check your genetic data for rs1800587 -889C/T (23andMe v4, v5; AncestryDNA):

  • G/G: typical
  • A/G: increased risk of disc disease
  • A/A: increased risk of disc disease[ref][ref][ref] increased IL-1A[ref] increased risk of acne[ref]

Members: Your genotype for rs1800587 is .

IL6 gene:

Interleukin-6 is a cytokine or inflammatory molecule produced by the body as part of an inflammatory reaction.

Check your genetic data for rs1800797 (23andMe v4, v5; AncestryDNA):

  • G/G: increased risk of disc degeneration[ref][ref]
  • A/G: increased risk of disc degeneration
  • A/A: typical

Members: Your genotype for rs1800797 is .

Check your genetic data for rs1800795 (23andMe v4, v5; AncestryDNA):

  • G/G: increased risk of disc degeneration[ref] (more IL-6 produced)
  • C/G: increased risk of disc degeneration in some adult studies, but decreased risk of early disc degeneration in boys[ref]
  • C/C: typical risk of disc degeneration (less IL-6 produced)

Members: Your genotype for rs1800795 is .

Cartilage and collagen genes:

CILP gene:

The CILP gene codes for the cartilage intermediate protein. This protein interacts with TGF-B1 in inducing the extracellular matrix proteins.

Check your genetic data for rs2073711 (23andMe v4, v5; AncestryDNA):

  • G/G: most common genotype – a typical risk of lumbar disc disease
  • A/G: decreased risk of lumbar disc disease
  • A/A: decreased risk of lumbar disc disease[ref][ref]

Members: Your genotype for rs2073711 is .

COL1A1 gene:

This gene codes for type I collagen that is incorporated into the spinal discs.

Check your genetic data for rs1800012 (23andMe v4, v5):

  • C/C: typical
  • A/C: typical risk for disc disease
  • A/A: increased risk for disc disease[ref][ref][ref][ref]

Members: Your genotype for rs1800012 is .

COL2A1 gene:

Check your genetic data for rs2276454 (23andMe v4 only; AncestryDNA):

  • G/G: increased risk of disc degeneration[ref][ref]
  • A/G: increased risk of disc degeneration
  • A/A: typical

Members: Your genotype for rs2276454 is .

COL11A1 and COL11A2 genes:

These genes code for a type of collagen (type XI) that is incorporated in the extracellular matrix disc.

Check your genetic data for rs1676486 (23andMe v4 only; AncestryDNA):

  • A/A: increased risk for lumbar disc herniation[ref] reduced COL11A1 expression[ref]
  • A/G: increased risk for lumbar disc herniation
  • G/G: typical

Members: Your genotype for rs1676486 is .

Check your genetic data for rs1337185 (23andMe v5; AncestryDNA):

  • G/G: increased risk of a bulging disc[ref]
  • C/G: some increased risk of a bulging disc
  • C/C: typical

Members: Your genotype for rs1337185 is .

Autophagy-related pathways:

CASP9 gene:

This is an autophagy gene, illustrating that autophagy (the breaking down and clearing out of cellular waste) is important in healthy discs.

Check your genetic data for rs4645978 (23andMe v4 only; AncestryDNA):

  • C/C: increased risk of lumbar disc herniation[ref]
  • C/T: typical risk of lumbar disc herniation
  • T/T: typical

Members: Your genotype for rs4645978 is .

PARK2 gene:

This gene codes for a protein called parkin and is thought to play a role in autophagy (mitophagy) and degrading unwanted proteins.

Check your genetic data for rs926849 (23andMe v4, v5; AncestryDNA):

  • C/C: increased risk of lumbar disc disease, reduced PARK2[ref]
  • C/T: some increase in the risk of lumbar disc disease
  • T/T: typical

Members: Your genotype for rs926849 is .

 


Lifehacks:

I’m going to assume that if you have back pain, you’ve probably tried various pain relievers (NSAID’s, aspirin) and either a heating pad or ice pack already… Hopefully, you have already looked into stretches and gentle exercise options as well. Instead, this section will focus on some more targeted therapies. This is all for informational purposes only – talk with a doctor if you have questions.

Inflammation:

If you have disc disease and your genetic susceptibility lies in the inflammatory genes (IL1A, IL6), there are a couple of things you could try to turn down that inflammatory response.

Photobiomodulation, also known as low-level laser light therapy, reduces IL1B and IL6 levels at some wavelengths.[ref] Note that this is dependent on the wavelength used, with some wavelengths upregulating IL6.[ref][ref] Photobiomodulation seems like a powerful therapy option, but one that needs to be done correctly.[ref][ref]

Curcumin, a natural anti-inflammatory compound, may decrease IL1A and IL6.[ref][ref] You can get curcumin as a supplement or in the spice, turmeric. Google ‘golden milk’  for recipes for a turmeric drink.

Black seed oil, also known as black cumin seed oil and Nigella sativa, contains high levels of thymoquinone.  Thymoquinone, in studies, reduced IL-1 and IL-6.[ref][ref] You can buy black seed oil either in capsules or as liquid oil. For pain management in rheumatoid arthritis, it seems to be effective either orally or topically.[ref]

Autophagy:

If your genetic susceptibility lies with the autophagy genes (PARK2, CASP9), here are a couple of autophagy-related things to investigate:

Olive oil increases autophagy.[ref][ref]

Intermittent fasting decreases mTOR and increases autophagy.[ref][ref]

Resveratrol inhibits mTOR and increases autophagy.[ref] Red wine and grapes are food sources of resveratrol, or you can get it as a supplement.

CBD oil, cannabidiol, induces autophagy in intestinal epithelial cells.[ref]

Luteolin, a flavonoid found in abundance in broccoli, parsley, and celery, activates autophagy after a traumatic brain injury (TBI).[ref]

Collagen:

To be honest, I have no idea what will help with the collagen-related genetic variants. Check back later – I’ll keep digging into this topic.

General Back Pain Relief:

Capsacian, the ‘hot’ spice found in chili peppers, has some good research to back up its use for pain. Basically, it de-sensitizes the pain receptors.[ref]  A study on a capsaicin 8% topical patch found that pain was reduced by at least 30% in the majority of people with recent back pain onset.[ref][ref]

Dr. Drew Podcast Episode 504

Dr. Drew’s podcast focuses on the root causes of back pain and the necessity of spinal surgery. Guest, Dr. David Hanscom is a board-certified orthopedic surgeon and gives his take on the field of spinal surgery after decades of practice. Both doctors offer some good points on the connections between back pain and inflammation. A good listen if you are working through back pain and looking for solutions. Dr. David Hanscom [Episode 504]

 

Gene RS ID Risk Allele YOU Notes about the Risk Allele:
IL1A rs1800587 A Increased risk of pain from degenerative disc disease
IL6 rs1800797 G
IL6 rs1800795 G
CILP rs2073711 A Decreased risk of lumbar disc disease
COL1A1 rs1800012 A Increased risk of pain from degenerative disc disease
COL2A1 rs2276454 G
COL11A1 rs1676486 A
COL11A1 rs2076311 A
CASP9 rs4645978 C
PARK2 rs926849 C

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