New study found SNPs for some symptoms!

A reader in Spain forwarded to me an article just published days ago, “Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome [2016]“. As expected, there was no outstanding results except for mtDNA (Mitochondrial DNA). mtDNA is inherited from the mother only, thus for some symptoms — a daughter’s symptoms may be the same as her mother in general.

The conclusions were

“We did not observe a significant association of mitochondrial DNA genome variation with either susceptibility or resistance to ME/CFS. We did not detect any significant difference in level of heteroplasmy between cases and controls. Using a cohort of 193 ME/CFS cases and 196 controls, at 5 % FDR we observed eight mtDNA SNPs to be associated with 16 symptom categories and three haplogroups associated with six symptom categories, suggesting that the mitochondrial genome of an individual with ME/CFS can affect the type and severity of particular symptoms.”

How to Check Yours!

I have reproduced the table 4 in the article and added a column showing my own SNPs below. For myself, the SNPs and symptoms were accurate! Below I explain how you can test your own DNA against this study.

Nucleotide position Symptomatic allele p value q value* Symptom Type Survey 23AndMe Click Below
150 T 0.000196 0.01373 Accomplished less emotional SF-36 C 23 and me
150 T 0.000308 0.02156 Emotional limitations SF-36 C
150 T 8.94E-05 0.005944 Less time for work SF-36 C
150 T 0.00048 0.03358 Didn’t work as carefully SF-36 C
930 G 9.71E-05 0.006795 Difficulty performing work SF-36 G Match 23 and me
1719 A 3.80E-06 0.0002661 Inflammatory distress Cluster DePaul G 23 and me
1719 A 4.17E-05 0.002919 Flu-like symptoms Distress DePaul G
1719 A 6.09E-05 0.004262 Chemical sensitivity Distress DePaul G
1719 A 6.54E-05 0.00458 Neuro inflammatory distress Cluster DePaul G
1719 A 0.000161 0.01129 Sensitivity to bright lights Distress DePaul G
1719 A 0.000295 0.02068 Chemical sensitivity Severity DePaul G
1719 A 0.000301 0.02108 Sensitivity to bright lights Frequency DePaul G
3010 A 0.000173 0.01208 Sleep in day, awake all night Frequency DePaul G 23 and me
3010 A 0.000226 0.01582 Sleep in day, awake all night Distress DePaul G
5147 G 0.001175 0.04114 Difficulty performing work SF-36 G Match 23 and me
16093 T 0.000206 0.0144 Accomplished less physical SF-36 T Match 23 and me
16093 T 0.000289 0.02022 Physical limitations SF-36 T Match
16223 T 0.00076 0.0266 Sensitivity to bright lights Frequency DePaul C 23 and me
16223 T 0.000885 0.03098 Neuro inflammatory distress Cluster DePaul C
16519 C 0.000125 0.008729 Gastrointestinal distress Cluster DePaul T 23 and me
16519 C 0.000135 0.009423 Bloating Severity DePaul T
16519 C 0.000149 0.01043 Abdomen/stomach pain Severity DePaul T
16519 C 0.000182 0.01274 Bloating Frequency DePaul T
16519 C 0.000355 0.02482 Bloating Distress DePaul T

Process

  1. Log on to 23Andme.com
  2. Click the link on the far right after logging on
  3. A page will be rendered like the one shown below
  4. mtdna

Look at the Nucleotide position in the table and “Position” on this page. Then look to the right to see your value.  I have a value of “C” which is not the same as the symptomatic allele — hence it is likely not a symptom for me (and it is not).

Haplogroup and Symptoms

“All of the significant associations were with symptoms related to joint pain, bloating, or “feeling dead” after exercise. Haplogroup J showed a protective effect against all metrics of joint pain and individuals belonging to haplogroup U reported less severe bloating and had lower bloating distress scores compared to other haplogroups. On the other hand, ME/CFS individuals with haplogroup H tended to be more susceptible to “feeling dead” after exercise than other haplogroups.”

I am in the R1 haplogroup so there was no findings for me.

Bottom Line

The SNPs likely impacts how the body responds to shifts of the microbiome (effectively a chemical factory with many many chemicals) and are not a direct cause of the symptoms. The shifts are unique but with a lot of commonality — for example, some of these SNPs could be connected to D-Lactic Acidosis, a condition that could arise from many different bacteria in the microbiome.