Invest in ME Conference 12: First Class in Every Way
OverTheHills wraps up our series of articles on this year's 12th Invest in ME International Conference (IIMEC12) in London with some reflections on her experience as a patient attending the conference for the first time.
Discuss the article on the Forums.

Mutation in COL3A1

Discussion in 'Connective Tissue Disorders/Ehlers-Danlos Syndrome' started by Pheenix997, Jun 26, 2017.

  1. Pheenix997

    Pheenix997

    Messages:
    29
    Likes:
    5
    Hi guys,

    I found out today I have the Mutation of the COL3A1 gene used to confirm a diagnosis of Vascular EDS. Does this mean anything on its own ? Should I look into further testing?

    Apparently the frequency of this allele Mutation in the population is only 6 % :(. Am I jumping the gun here to be worried ?

    I don't have hypermobilty but my sister does; no visible veins but my mother does; I've sublaxed my shoulder about 8 times leading to eventual surgery. I have slightly stretchy skin but it's not fragile. I also have the facial features of Vascular EDS....

    I am worried lol.
     
    pattismith likes this.
  2. JaimeS

    JaimeS Senior Member

    Messages:
    3,115
    Likes:
    11,260
    Mid-Ohio Valley, United States
    montseniana, pattismith and Sushi like this.
  3. Sushi

    Sushi Senior Member Albuquerque

    Messages:
    13,980
    Likes:
    21,297
    Albuquerque
    I agree--just get it checked out. Do you have a doctor nearby who would be competent to evaluate you? Not all Reumatologists seem to be EDS aware.
     
    pattismith and JaimeS like this.
  4. alicec

    alicec Senior Member

    Messages:
    1,333
    Likes:
    2,490
    Australia
    First check the accuracy of the claim about the genetic variant.

    Here is the OMIM entry which details known pathogenic SNPs.

    Here is a review of clinical and genetic features of the condition. The diagnosis appears to be made on a clinical basis.
     
    JaimeS and Valentijn like this.
  5. Valentijn

    Valentijn The Diabolic Logic

    Messages:
    14,114
    Likes:
    44,061
    @Pheenix997 - Which specific mutation is it on the gene, and are you homozygous or heterozygous for it? If it's at 6% prevalence, it's somewhat unlikely to be disease-causing.
     
    JaimeS and Manganus like this.
  6. Pheenix997

    Pheenix997

    Messages:
    29
    Likes:
    5
    Thanks, you guys are awesome :).

    @Valentijn What do you mean which specific mutation. I'm very new to this. I've attached a pic of my 23andme results. I appear to be homozygous (A;A).
     
    Last edited: Jun 27, 2017
  7. JaimeS

    JaimeS Senior Member

    Messages:
    3,115
    Likes:
    11,260
    Mid-Ohio Valley, United States
    Valentijn likes this.
  8. Pheenix997

    Pheenix997

    Messages:
    29
    Likes:
    5
    @JamieS I couldn't upload on my phone. But the Gene is rs1800255, associated with pelvic organ prolapse and EDS.

    No significance in pelvic organ prolapse found in the heterozygous group.
     
  9. Pheenix997

    Pheenix997

    Messages:
    29
    Likes:
    5
  10. JaimeS

    JaimeS Senior Member

    Messages:
    3,115
    Likes:
    11,260
    Mid-Ohio Valley, United States
    Pheenix997 likes this.
  11. Valentijn

    Valentijn The Diabolic Logic

    Messages:
    14,114
    Likes:
    44,061
    The minor allele for that SNP is extremely common, at 32%. It's also marked as benign, meaning it doesn't cause disease. Either its association with EDS is quite minor, or it's a false positive from substandard research.
     
    JaimeS and Pheenix997 like this.
  12. Pheenix997

    Pheenix997

    Messages:
    29
    Likes:
    5
    I'm using promethease and the heterozygous polymorphism A;G is listed as benign. A;A has a 6% frequency. G;G is normal. Am I reading this wrong ?
     
  13. Valentijn

    Valentijn The Diabolic Logic

    Messages:
    14,114
    Likes:
    44,061
    All three versions are benign: AA, AG, or GG. A is the minor allele, with a frequency of 32%, which means approximately 10% of people are homozygous for AA, 44% are heterozygous, and 46% are homozygous for GG. The site you listed is probably using outdated prevalence data from a much smaller and more limited group of people.
     
    JaimeS likes this.
  14. Pheenix997

    Pheenix997

    Messages:
    29
    Likes:
    5
    Curious at to where are you getting the info that COL3A1 is benign ?
     
  15. alicec

    alicec Senior Member

    Messages:
    1,333
    Likes:
    2,490
    Australia
    COL3A1 is the gene and no-one is doubting that variants in this gene are associated with EDS type IV.

    Not all variants are a problem however and the one you are concerned about, rs1800255, is characterised as benign - not something you should worry about.

    It's always a good idea to check any variants of concern with reputable databases. OMIM has good summaries for genes and various conditions plus you can search for any particular rs number on dbSNP. Here is the entry for your SNP.

    Here you can check which allele is ancestral and which is the variant, you will find up to date prevalence data (MAF or minor allele frequency), links to studies on the SNP (PubMed), info on the status of the SNP (it is listed as benign with a link to ClinVar to see the basis of the classification), plus a lot more.
     
    Last edited: Jun 27, 2017
    Valentijn and JaimeS like this.
  16. wastwater

    wastwater Senior Member

    Messages:
    861
    Likes:
    489
    uk
    I mentioned COL4A1 Previously
     
  17. montseniana

    montseniana

    Messages:
    9
    Likes:
    15
    Catalonia, Spain
    JaimeS likes this.
  18. Valentijn

    Valentijn The Diabolic Logic

    Messages:
    14,114
    Likes:
    44,061
    JaimeS and montseniana like this.
  19. montseniana

    montseniana

    Messages:
    9
    Likes:
    15
    Catalonia, Spain
    Thanks @Valentijn! I was reading it yesterday and my head was a mess :confused:!
     
    JaimeS likes this.

See more popular forum discussions.

Share This Page