watchman at nucleus.com
Sun Aug 12 17:01:34 EST 2001
I am hoping someone maybe able to answer a question?
Am I making a 'stretch'.. here?
These two articles speak to different diseases.
Ther first article speaks to a hypothesis placed recently in
which he finds cystic fibrosis to be linked to hemochromatosis..through
the .. HLA ..
The second article ALSO mentions the .. HLA .. and since I am an
idiot .. I am hoping someone may be able to tell me if this
'sugggests' therefore .. a 'possible' link from hemochromatosis
TO .. gastrointestinal problems?
Genet Test 1998;2(1):85-8
Is the hemochromatosis gene a modifier locus for cystic fibrosis?
Rohlfs EM, Shaheen NJ, Silverman LM
Department of Pathology & Laboratory Medicine, University of North
Carolina, Chapel Hill 27599, USA.
The variable clinical manifestations of cystic fibrosis (CF) suggest
the influence of modifier genes. For example, meconium ileus is
present in approximately 10-15% of neonates with cystic fibrosis;
however, the genetic and, or environmental factors that determine
whether an individual will develop this complication have not been
determined. We propose the HFE gene as a candidate modifier locus for
CF based on (1) the suggestion of an association between the HLA loci
and CF phenotypes;
(2) the location of the HFE gene near the HLA loci
and; (3) the similarity between the gastrointestinal manifestations of
hereditary hemochromatosis and CF. We have determined the frequency of
the C282Y and H63D mutations in a group of 89 CF patients who were
homozygous for delta F508 and for whom meconium ileus status was
known. The carrier frequency of C282Y among the CF patients with
meconium ileus was significantly different from that of our unaffected
control group (19.4% versus 7.7%). However, the difference between the
meconium ileus and the nonmeconium ileus groups was not significant
(19.4% versus 10.3%). There was no difference in the frequency of the
H63D among the three groups that were studied. These data are
suggestive of a relationship between the development of meconium ileus
or other gastrointestinal diseases in CF and the HFE gene. Further
study of a larger group of patients is warranted.
PMID: 10464603, UI: 99393869
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Aliment Pharmacol Ther 2001 Jun;15(6):731-48
The genetics of inflammatory bowel disease.
Ahmad T, Satsangi J, McGovern D, Bunce M, Jewell DP
Gastroenterology Unit, Radcliffe Infirmary, Oxford, UK Department of
Gastroenterology, Western General Hospital, Edinburgh, UK Tissue
Typing Laboratory, Churchill Hospital, Oxford, UK.
[Medline record in process]
Recent epidemiological, clinical and molecular studies have provided
strong evidence that inherited predisposition is important in the
pathogenesis of chronic inflammatory bowel diseases. The model most
consistent with the epidemiological data suggests that Crohn's disease
and ulcerative colitis are related polygenic diseases, sharing some
but not all susceptibility genes. Investigators throughout the world
have applied the complementary techniques of genome-wide scanning and
candidate gene analysis. Four areas of linkage have been widely
replicated on chromosomes 16 (IBD1), 12 (IBD2),
6 (IBD3-the HLA region),
and most recently on chromosome 14. Fine mapping of these
regions is underway. Of the 'positional' candidate genes, most
attention has centred on the genes of the major histocompatibility
complex. Genes within this region may determine disease
susceptibility, behaviour, complications and response to therapy. Hope
continues that studies of inflammatory bowel disease genetics will
provide fresh insight into disease pathogenesis and soon deliver
PMID: 11380312, UI: 21275015
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