Interesting article...

Allie

New member
Now, I know this is just one article, but I found it really interesting, in france, they did research of CFers with class I /I or class II/I combinations. They found a much higher likelihood of severe pancreatic disease (which we knew), but the interestig thing was they found that people with a class one mutation were more likely to be colonized with pseudo. Interesting.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pslgroup.com/dg/214BBE.htm
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Edited to add: I lied, there's more, this is the one I was looking for in my pile earlier. In Thorax, July of 2005, there was an article about genotype and pulmonary outcome. Here's what I found :


Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival

So, what I always assumed was right, there is SOME tie between genotype and phenotype.

I only own the hard coppy of that article, but I gave you the stuff to look it up.
 

Debi

New member
Well, it explains why my FEVs are so low, but not how I've been so fortunate to make it so long. Interesting information.

Debi
54 w/cf
 
P

paws

Guest
I just recently thought to ask my doc what my mutations were. Right now only one is identified: 711+1G->T. Just today I was looking at some of the sites others have linked to in similar posts. According to one, this identified mutation is classified as a class I, which as noted earlier is supposed to be the worst. My case is considered "mild" and I still have very good lung function.

It's rather contradictory which is confusing to me.
 
P

paws

Guest
I just recently thought to ask my doc what my mutations were. Right now only one is identified: 711+1G->T. Just today I was looking at some of the sites others have linked to in similar posts. According to one, this identified mutation is classified as a class I, which as noted earlier is supposed to be the worst. My case is considered "mild" and I still have very good lung function.

It's rather contradictory which is confusing to me.
 
P

paws

Guest
I just recently thought to ask my doc what my mutations were. Right now only one is identified: 711+1G->T. Just today I was looking at some of the sites others have linked to in similar posts. According to one, this identified mutation is classified as a class I, which as noted earlier is supposed to be the worst. My case is considered "mild" and I still have very good lung function.

It's rather contradictory which is confusing to me.
 
P

paws

Guest
I just recently thought to ask my doc what my mutations were. Right now only one is identified: 711+1G->T. Just today I was looking at some of the sites others have linked to in similar posts. According to one, this identified mutation is classified as a class I, which as noted earlier is supposed to be the worst. My case is considered "mild" and I still have very good lung function.

It's rather contradictory which is confusing to me.
 
P

paws

Guest
I just recently thought to ask my doc what my mutations were. Right now only one is identified: 711+1G->T. Just today I was looking at some of the sites others have linked to in similar posts. According to one, this identified mutation is classified as a class I, which as noted earlier is supposed to be the worst. My case is considered "mild" and I still have very good lung function.

It's rather contradictory which is confusing to me.
 
P

paws

Guest
I just recently thought to ask my doc what my mutations were. Right now only one is identified: 711+1G->T. Just today I was looking at some of the sites others have linked to in similar posts. According to one, this identified mutation is classified as a class I, which as noted earlier is supposed to be the worst. My case is considered "mild" and I still have very good lung function.

It's rather contradictory which is confusing to me.
 

CFHockeyMom

New member
It's not a hard and fast rule. We have plenty of siblings on here (even twins) with identical genes and completely different clinical outcomes. I consider it a rule of thumb along with environment, treatment, compliance, etc. being contributors to clinical outcome.

That said, with only one of your genes identified, it is completely possible that your other gene is a Class III or even IV and according to the article a Class I/III combo or Class I/IV combo is likely to be less severe than a Class I/I combo or Class I/II combo.
 

CFHockeyMom

New member
It's not a hard and fast rule. We have plenty of siblings on here (even twins) with identical genes and completely different clinical outcomes. I consider it a rule of thumb along with environment, treatment, compliance, etc. being contributors to clinical outcome.

That said, with only one of your genes identified, it is completely possible that your other gene is a Class III or even IV and according to the article a Class I/III combo or Class I/IV combo is likely to be less severe than a Class I/I combo or Class I/II combo.
 

CFHockeyMom

New member
It's not a hard and fast rule. We have plenty of siblings on here (even twins) with identical genes and completely different clinical outcomes. I consider it a rule of thumb along with environment, treatment, compliance, etc. being contributors to clinical outcome.

That said, with only one of your genes identified, it is completely possible that your other gene is a Class III or even IV and according to the article a Class I/III combo or Class I/IV combo is likely to be less severe than a Class I/I combo or Class I/II combo.
 

CFHockeyMom

New member
It's not a hard and fast rule. We have plenty of siblings on here (even twins) with identical genes and completely different clinical outcomes. I consider it a rule of thumb along with environment, treatment, compliance, etc. being contributors to clinical outcome.

That said, with only one of your genes identified, it is completely possible that your other gene is a Class III or even IV and according to the article a Class I/III combo or Class I/IV combo is likely to be less severe than a Class I/I combo or Class I/II combo.
 

CFHockeyMom

New member
It's not a hard and fast rule. We have plenty of siblings on here (even twins) with identical genes and completely different clinical outcomes. I consider it a rule of thumb along with environment, treatment, compliance, etc. being contributors to clinical outcome.

That said, with only one of your genes identified, it is completely possible that your other gene is a Class III or even IV and according to the article a Class I/III combo or Class I/IV combo is likely to be less severe than a Class I/I combo or Class I/II combo.
 

CFHockeyMom

New member
It's not a hard and fast rule. We have plenty of siblings on here (even twins) with identical genes and completely different clinical outcomes. I consider it a rule of thumb along with environment, treatment, compliance, etc. being contributors to clinical outcome.

That said, with only one of your genes identified, it is completely possible that your other gene is a Class III or even IV and according to the article a Class I/III combo or Class I/IV combo is likely to be less severe than a Class I/I combo or Class I/II combo.
 
P

paws

Guest
Thanks Claudette, I really was rather shocked to see my identified mutation as a class I since I'm so "mild" and hadn't really seen it mentioned. I realize it doesn't dictate my future, etc., but I just didn't expect that. I guess I was assuming it would fall into a III or IV. I see that your son Sean also has that mutation as well. Maybe one day they'll have more answers for us.
 
P

paws

Guest
Thanks Claudette, I really was rather shocked to see my identified mutation as a class I since I'm so "mild" and hadn't really seen it mentioned. I realize it doesn't dictate my future, etc., but I just didn't expect that. I guess I was assuming it would fall into a III or IV. I see that your son Sean also has that mutation as well. Maybe one day they'll have more answers for us.
 
P

paws

Guest
Thanks Claudette, I really was rather shocked to see my identified mutation as a class I since I'm so "mild" and hadn't really seen it mentioned. I realize it doesn't dictate my future, etc., but I just didn't expect that. I guess I was assuming it would fall into a III or IV. I see that your son Sean also has that mutation as well. Maybe one day they'll have more answers for us.
 
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