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Genetic Question...


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15 replies to this topic

#1 Lizzylulu

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Posted 13 February 2012 - 08:21 AM

Over a year ago I was diganosed with Celiacs disease followed by my middle child being diganosed not to long after this. I have two other children, one is symptmatic and the other is gluten-free because she was a baby when I was diganosed and she has just always eaten what her sister & I eat. I recently discovered that because I am DQ2 DQ8 thta i will pass on one of these genes to all of my children. Futhermore I discover because my middle child who is DQ2 Homomzygous (she has two DQ2 genes) that it is more than possible she recieved one from myself and one from her father, Which puts all our children at greater risk.
Does anyone have anymore information on this?
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Third generation of Celiacs Disease in my family
Gluten Free since July 2010

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#2 heidi g.

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Posted 13 February 2012 - 05:43 PM

I know that people can have the genes for celiac but not have an active case of it. For example: the celiac gene has been passed down in my family for generations. But no one has an active case for like hundreds of years (unless they hid the symptoms and never told anybody) but when something traumatic happened to me it was "triggered" and now i am the only one in my family who has it. That is really all the knowledge i have on it. Hope it somewhat helps.
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#3 heidi g.

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Posted 13 February 2012 - 05:45 PM

Also, celiac disease is hereditary so most likely all your children have the genes. It doesn't mean their all going to have it though.
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#4 Lisa

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Posted 13 February 2012 - 05:54 PM

Here is some information that you might find has value to your situation:

http://www.uchospita.../uch_007936.pdf
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Lisa

Gluten Free - August 15, 2004

"Not all who wander are lost" - JRR Tolkien

#5 cyberprof

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Posted 13 February 2012 - 07:58 PM

Over a year ago I was diganosed with Celiacs disease followed by my middle child being diganosed not to long after this. I have two other children, one is symptmatic and the other is gluten-free because she was a baby when I was diganosed and she has just always eaten what her sister & I eat. I recently discovered that because I am DQ2 DQ8 thta i will pass on one of these genes to all of my children. Futhermore I discover because my middle child who is DQ2 Homomzygous (she has two DQ2 genes) that it is more than possible she recieved one from myself and one from her father, Which puts all our children at greater risk.
Does anyone have anymore information on this?


OK, as you noted, each person has two chances to have a celiac gene.

This is what we know:

You - DQ2/DQ8
Middle Daughter - DQ2/DQ2 ..therefore Father - DQ2/?

The father must have at least one DQ2 copy, because DD2 got one from each of you.

So, your other kids have a good chance of being double-DQ2 positive but they could either be DQ2/DQ2 or DQ2/DQ8, or DQ2/noDQ or DQ8/NoDQ, depending on the identity of father/husband’s unknown gene. Father could be DQ2/DQ8, DQ2/DQ2 or DQ2/NoDQ. There is no way that your kids won’t have either DQ2 or DQ8 based on your known genes.

You could have father/husband tested, and then you'll know what the possibilities are or have the other kids tested. If father/husband is DQ2/DQ2 or DQ2/DQ8 then you know for sure that both your other kids are going to have two DQ genes, you just won't know which one(s). OR you could have the kids tested and then you'd know for sure what they have. You still might still not know what father/husband is but it may not matter.

Note that DQ2/DQ2 or DQ2/DQ8 people sometimes have a harder time with Celiac and other autoimmune diseases like late-onset Diabetes Type I (LADA). DQ8 is associated with Type I diabetes and according to Wikipedia “The highest risk factor for type 1 diabetes is the HLA DQ8/DQ2.5 phenotype. In parts of eastern Scandinavia both DQ2.5 and DQ8 are high increases frequencies of late onset Type I and ambiguous Type I/II diabetes.” It would be useful to know if you or your husband is DQ2.5 or some other DQ2.


http://en.wikipedia.org/wiki/HLA-DQ8
http://en.wikipedia.org/wiki/HLA-DQ2

HTH
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Diagnosed by biopsy 2/12/07. Negative blood tests. Gluten-free (except for accidents) since 2/15/07. DQ2.5 (HLA DQA1*05:DQB1*0201)

Son, age 18, previously delayed growth 3rd percentile weight, 25th percentile height (5'3" at age 15). Negative blood work. Endoscopy declined. Enterolab positive 3/12/08. Gene results: HLA-DQB1 Molecular analysis, Allele 1 0201 HLA-DQB1 Molecular analysis, Allele 2 0503 Serologic equivalent: HLA-DQ 2,1(Subtype 2,5) Went gluten-free, casein-free 3/15/08. Now 6'2" (Over six feet!) and doing great.

"Great difficulties may be surmounted by patience and perseverance." Abigail Adams (1744-1818) 2nd First Lady of the United States

#6 cassP

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Posted 14 February 2012 - 11:03 AM

all great info above!

from my understanding, and what ive learned on here-> DQ2s and DQ8s are the stereotypical Celiac genes (predisposing u, tho u dont have to get it)... but that ALL the DQ genes also make it possible to trigger Celiac. people overseas have been dx with Celiac withOUT having either the 2 or the 8. and that having 2 of the same DQ genes tends to make u more vulnerable to triggering Celiac
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1986- Elevated Speckled ANA/no Lupus.negative Sjorgens
2008- AntiGliadin IGA/IGg~ Negative,TTG IGA/IGg~ Weak Positive, Endomysial Antibody~ Positive, IGA Deficient.
no biopsy (insurance denied)
6/2010- Enterolab Gene Test:
HLA-DQB1 Allele 1 0302
HLA-DQB1 Allele 2 0302
HLADQ 3,3 (subtype 8,8)
7/2010- 100% Gluten Free
8/2010- DH
10/2010-Hypothyroid dx-> 12/2010 Hashimoto's dx + 1/11- Graves dx :(

#7 researchmomma

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Posted 14 February 2012 - 06:32 PM

all great info above!

from my understanding, and what ive learned on here-> DQ2s and DQ8s are the stereotypical Celiac genes (predisposing u, tho u dont have to get it)... but that ALL the DQ genes also make it possible to trigger Celiac. people overseas have been dx with Celiac withOUT having either the 2 or the 8. and that having 2 of the same DQ genes tends to make u more vulnerable to triggering Celiac


People in the US also have been diagnosed without genes. In a study at UC Irvine they have 800 biopsy confirmed Celiacs and 5% do not have the genes. I emailed back and forth with the sub-investigator on the study and she confirmed this.
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#8 cyberprof

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Posted 14 February 2012 - 07:25 PM

People in the US also have been diagnosed without genes. In a study at UC Irvine they have 800 biopsy confirmed Celiacs and 5% do not have the genes. I emailed back and forth with the sub-investigator on the study and she confirmed this.

Yes, our own Ravenwoodglass is one of those.

It's a moot point for the OP, Lizzy, because she, her kids' dad and her kids all have at least one celiac gene, predisposing them to celiac (but not making celiac a certainty).
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Diagnosed by biopsy 2/12/07. Negative blood tests. Gluten-free (except for accidents) since 2/15/07. DQ2.5 (HLA DQA1*05:DQB1*0201)

Son, age 18, previously delayed growth 3rd percentile weight, 25th percentile height (5'3" at age 15). Negative blood work. Endoscopy declined. Enterolab positive 3/12/08. Gene results: HLA-DQB1 Molecular analysis, Allele 1 0201 HLA-DQB1 Molecular analysis, Allele 2 0503 Serologic equivalent: HLA-DQ 2,1(Subtype 2,5) Went gluten-free, casein-free 3/15/08. Now 6'2" (Over six feet!) and doing great.

"Great difficulties may be surmounted by patience and perseverance." Abigail Adams (1744-1818) 2nd First Lady of the United States

#9 cassP

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Posted 14 February 2012 - 08:38 PM

researchmomma- very interesting!! i hope the rest of the medical community catches up with that study

and i THINK Ravenwoodglass is overseas, no???
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1986- Elevated Speckled ANA/no Lupus.negative Sjorgens
2008- AntiGliadin IGA/IGg~ Negative,TTG IGA/IGg~ Weak Positive, Endomysial Antibody~ Positive, IGA Deficient.
no biopsy (insurance denied)
6/2010- Enterolab Gene Test:
HLA-DQB1 Allele 1 0302
HLA-DQB1 Allele 2 0302
HLADQ 3,3 (subtype 8,8)
7/2010- 100% Gluten Free
8/2010- DH
10/2010-Hypothyroid dx-> 12/2010 Hashimoto's dx + 1/11- Graves dx :(

#10 cyberprof

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Posted 14 February 2012 - 08:49 PM

researchmomma- very interesting!! i hope the rest of the medical community catches up with that study

and i THINK Ravenwoodglass is overseas, no???


No, I'm pretty sure Raven lives in the US.
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Diagnosed by biopsy 2/12/07. Negative blood tests. Gluten-free (except for accidents) since 2/15/07. DQ2.5 (HLA DQA1*05:DQB1*0201)

Son, age 18, previously delayed growth 3rd percentile weight, 25th percentile height (5'3" at age 15). Negative blood work. Endoscopy declined. Enterolab positive 3/12/08. Gene results: HLA-DQB1 Molecular analysis, Allele 1 0201 HLA-DQB1 Molecular analysis, Allele 2 0503 Serologic equivalent: HLA-DQ 2,1(Subtype 2,5) Went gluten-free, casein-free 3/15/08. Now 6'2" (Over six feet!) and doing great.

"Great difficulties may be surmounted by patience and perseverance." Abigail Adams (1744-1818) 2nd First Lady of the United States

#11 Avalon451

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Posted 14 February 2012 - 10:15 PM

After reading this I got to wondering about our family. As many of you know, DD16 was definitely positive, by blood, plus skin and endo biopsies. The younger two had positive blood tests (we didn't have them biopsied). I had only one faint "possible positive" on the blood test, but lots of symptoms, so the GI did an endo which has just come back negative.

So I'm wondering if both hubby and I have the genes, one or both of them-- or did DD16 just get the full matched set and therefore triggered? And I wonder if my younger two also have the full set? Are they more liable to get the whole range of complications down the line?

So I emailed my PCP and asked if hubby and I could get the gene test. He replied (kind of abruptly, for him, usually he's very accommodating) that he is not even able to order that test, but the GI doc might. and that he doesn't see that it would be of any use except to satisfy curiosity. Ouch. I just want to know if my younger two kids are more or less likely to be very affected with complications. I was going to ask their pediatrician to order the gene test after hubby and I had ours.

I think I will take it up with the pediatric GI doc at Children's Hospital. He'll understand our concerns better, I think.
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Avalon

16 y.o. DD diagnosed with DH and celiac (positive blood and biopsies), January 2012
14 y.o. and 9 y.o. DDs, positive blood tests Jan. 2012, no biopsies; assumed celiac
Me, 47 y.o., lifetime of symptoms, negative blood and biopsy, assumed NCGI
DH 51, negative blood but went gluten-free with us anyway.
My husband is our best supporter!

#12 Roda

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Posted 15 February 2012 - 12:52 AM

People in the US also have been diagnosed without genes. In a study at UC Irvine they have 800 biopsy confirmed Celiacs and 5% do not have the genes. I emailed back and forth with the sub-investigator on the study and she confirmed this.

I'm diagnosed with blood work and biopsy only. I've never had the genetic test so I have no idea what genes I have. I am curious though. If I was to get it done I want to know if I can get the test without going through my doctor? I don't need them second guessing my diagnosis, if I happen to not have the DQ2 or DQ8. I've been thinking about it for my youngest son. If he has either of those genes then I could cinch his diagnosis for sure.
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Me:
Celiac disease(positive blood work/biopsy- 10/2008), gluten free oat intolerent, Hashimoto's Thyroiditis/Disease, Raynaud's Disease


DS2(age 9):
celiac disease(positive IgA tTG, no biopsy- 11/2010)


DS1(age 13):
repeated negative bloodwork and negative EGD/biopsy. Started on a gluten free trial(8/2011). He has decided to stay gluten free due to all of the improvements he has experienced on the diet.


#13 Skylark

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Posted 15 February 2012 - 01:03 AM

So I'm wondering if both hubby and I have the genes, one or both of them-- or did DD16 just get the full matched set and therefore triggered? And I wonder if my younger two also have the full set? Are they more liable to get the whole range of complications down the line?

The incidence of celiac disease is rising in first-world countries, but not in poorer countries with similar genetics. Type 1 diabetes is rising too. The incidence of celiac genes has not changed in the general population, so there is something about our lifestyle that is triggering the autoimmunity.

You are too worried about specific alleles that may confer some risk for celiac but are very, very clearly not the whole story. Celiac runs in families; chances are both you and DH have some genes that permit triggering of celiac disease under the wrong circumstances. Your kids do too, and because of whatever is going on with our lifestyle, the disease triggered in them much earlier than it did in you. Women seem more susceptible so your DH may have the genes but never show issues with gluten.
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#14 ravenwoodglass

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Posted 15 February 2012 - 05:12 AM

researchmomma- very interesting!! i hope the rest of the medical community catches up with that study

and i THINK Ravenwoodglass is overseas, no???


Nope US born and raised. Interestingly my genes are usually genes that are found in the Middle East or Asian population and considered celiac associated genes there...but my parents were German, Dutch (Dad) and Welsh, Irish and English (Mom).
There is still an awful lot to be learned about celiac associated genetics.
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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#15 cassP

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Posted 15 February 2012 - 10:33 AM

Nope US born and raised. Interestingly my genes are usually genes that are found in the Middle East or Asian population and considered celiac associated genes there...but my parents were German, Dutch (Dad) and Welsh, Irish and English (Mom).
There is still an awful lot to be learned about celiac associated genetics.

is it Mushroom then???? im so out of the loop.... i remember 1 of you regulars was in australia or NZ and i was so surprised... hhhmmm???
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1986- Elevated Speckled ANA/no Lupus.negative Sjorgens
2008- AntiGliadin IGA/IGg~ Negative,TTG IGA/IGg~ Weak Positive, Endomysial Antibody~ Positive, IGA Deficient.
no biopsy (insurance denied)
6/2010- Enterolab Gene Test:
HLA-DQB1 Allele 1 0302
HLA-DQB1 Allele 2 0302
HLADQ 3,3 (subtype 8,8)
7/2010- 100% Gluten Free
8/2010- DH
10/2010-Hypothyroid dx-> 12/2010 Hashimoto's dx + 1/11- Graves dx :(


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