Trinity Doberman Pinschers
Bred For Longevity
Faithful, Loving, Guardians for Todays Family

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Dialated Cardiomyopathy (DCM)
Dr. Weiss in Germany
Has discovered "a second" mutatation
associated with DCM

A Locus on Chromosome 5 Is Associated with Dilated Cardiomyopathy in DobermanPinschers

Link to full Summary of Abstract
 http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0020042

 Abstract

Dilated cardiomyopathy (DCM) is a heterogeneous group of heart diseases with a strong genetic background. Currently, many human DCM cases exist where no causative mutation can be identified. DCM also occurs with high prevalence in several large dog breeds. In the Doberman Pinscher a specific DCM form characterized by arrhythmias and/or echocardiographic changes has been intensively studied by veterinary cardiologists. We performed a genome-wide association study in Doberman Pinschers. Using 71 cases and 70 controls collected in Germany we identified a genomewide significant association to DCM on chromosome 5. We validated the association in an independent cohort collected in the United Kingdom. There is no known DCM candidate gene under the association signal. Therefore, DCM in Doberman Pinschers offers the chance of identifying a novel DCM gene that might also be relevant for human health.

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This Abstract was very technical and I will admit to having a hard time understanding all the technical genetic findings but two of the stated findings below are to me the most important.
 
  • Our findings that approximately half of the DCM affected Doberman Pinschers carry the risk-allele on CFA 5 indicate that this is a major, but not the only genetic risk factor for DCM in this breed. The lack of other association signals further suggests that the unexplained 50% DCM cases might be caused by several different genetic risk factors of small effect size, which cannot be detected with the currently available cohort sizes
  • The strong association to arrhythmia in our cohorts suggests that the risk factor on CFA 5 is primarily related to the arrhythmias. On the other hand, the weaker association of CFA 5 to echocardiographic changes might indicate that the heart dilation is indeed controlled by at least partially distinct genetic risk factors.

 There was no statement as to when a test will be available to identify whether your dog has the risk facator associated with CFA5 - and with only 50% of the dogs with DCM having this "risk facator" this again is another piece of the puzzle, but it is not the answer I was hoping for as it is not a definitive or a predictive test. The findings only spoke of heterozygous and homozygous results - I am assuming that the unexplained 50% DCM cases that had no association with CFA5 were negative.

So this test has identified a 50% portion of the breed population that has the risk factor, but that still leaves 50% that are clinically affected that do not have the risk factor associated with CFA5. The Meurs Test Identified 15% of the population clinically diagnosed with DCM and Negative for the mutation.

I am afraid this does not help breeders today - maybe in the future, in combination with other tests yes - but not today - and the reason it does not help us today is that you can have a dog that is Negative for the Meurs gene mutation and a dog that is Negative for the Wess Risk Factor and still have a dog be clinically diagnosed with DCM. *sigh*
 
I guess it is cause for a small celebration as we have identified another grain of a sand  on the DCM Beach.

Breeders of today have to make decisions based on what we know today - breeders of tomorrow will have the benefit of knowing the past.

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