Someone asked me about the COQ2 gene, which is involved in CoQ10 (ubiquinone) synthesis, so I took a look at all of the genes involved in CoQ10 synthesis for 12 ME patients I have full 23andMe data for, compared to 12 controls.
Purple highlights mean a result is calculated as being present in 1% or less of the general population, red is for 1-2.5% prevalence, orange is 2.5-5%, and yellow is 5-10%. Bold red font is used for missense mutations.
Neither ME patients nor controls have any rare SNPs in COQ2, COQ7, or COQ10A. ME patients and the controls have about the same number of rare variations for COQ4, COQ5, COQ6, ADCK3 (COQ8), COQ9, and COQ10B.
But ME patients have far more rare variations than the controls for PDSS1 and PDSS2 (COQ1):
If weighing the occurrence of the PDSS1 and PDSS2 variations according to rarity, we would score 110, versus 52 for the controls. So we have just over twice as much rarity in these SNPs as the controls do.
Purple highlights mean a result is calculated as being present in 1% or less of the general population, red is for 1-2.5% prevalence, orange is 2.5-5%, and yellow is 5-10%. Bold red font is used for missense mutations.
Neither ME patients nor controls have any rare SNPs in COQ2, COQ7, or COQ10A. ME patients and the controls have about the same number of rare variations for COQ4, COQ5, COQ6, ADCK3 (COQ8), COQ9, and COQ10B.
But ME patients have far more rare variations than the controls for PDSS1 and PDSS2 (COQ1):
- We have 5 variations at less than 1% prevalence (purple), versus 1 for the controls.
- We have 3 variations at 1-2.5% prevalence (red) versus 4 for the controls.
- We have 11 variations at 2.5-5% prevalence (orange), versus 4 for the controls.
- We have 23 variations at 5-10% prevalence (yellow), versus 14 for the controls.
If weighing the occurrence of the PDSS1 and PDSS2 variations according to rarity, we would score 110, versus 52 for the controls. So we have just over twice as much rarity in these SNPs as the controls do.
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