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West of ireland HLA

Karl Sigvard Olsson, Jan Konar, Inge Hoegh Dufva, Anne Ricksten, Ruma Raha-Chowdhury
UNLABELLED: The HLA-related hemochromatosis mutation C282Y is thought to have originated in Ireland in a person with HLA-A3-B14 and was spread by Vikings. Irish people with two HLA-A3 alleles had a high risk of hemochromatosis. In this study, from west Sweden, we wanted to test these hypotheses. METHODS: HFE mutations in controls, bone marrow donors with HLA-A3/A3 and patients with hemochromatosis. HLA haplotypes, extended haplotype analysis and pedigree studies...
January 2011: European Journal of Haematology
Robert M Rutherford, Martin H Brutsche, Miriam Kearns, Mary Bourke, Fiona Stevens, John J Gilmartin
OBJECTIVE: Susceptibility to sarcoidosis and coeliac disease has been linked to the class II haplotype HLA-DR3, DQ2, and an association between the two disorders has been suggested. As a pilot study, we have sought to determine the prevalence of coeliac disease in a cohort of Irish patients with sarcoidosis. DESIGN: Prospective, case-controlled study. METHODS: One hundred and two sarcoid patients (47 males, 55 females) from the west of Ireland and 105 (52 males, 53 females) healthy, ethnically matched, controls underwent interview and screening for coeliac disease and human leucocyte antigen typing by serology...
September 2004: European Journal of Gastroenterology & Hepatology
B D Bonar, B McColgan, D F Smith, C Darke, M G Guttridge, H Williams, P P Smyth
An earlier impression of a high prevalence of hypothyroidism in a general practice (4,190 patients including 1,544 adult females aged 18 years or more with 544 aged 50 years or more) in the Rosses, a coastal area in the northwest of Ireland was confirmed by this study. The accumulated prevalence of overt spontaneous primary hypothyroidism was 8.6% in 544 females aged 50 years or more but only 0.9% in the 1,000 females between 18 and 50 years of age. This prevalence was approximately twice that of an Irish National general practice population sample of 4,314 females aged 50 years or more (8...
September 2000: Thyroid: Official Journal of the American Thyroid Association
J P Michalski, C C McCombs, T Arai, R C Elston, T Cao, C F McCarthy, F M Stevens
Celiac disease (CD) has one of the strongest class II HLA associations of any human illness. We used DNA-RFLP typing to study the class II HLA genotypes of celiac disease patients from the West of Ireland, the geographic area with the highest rate of celiac disease in the world. We confirmed the high frequency of HLA-DR3 in this population, and we were also able to demonstrate the additional risk of developing celiac disease imparted by HLA-DR7. This was done by clearly distinguishing DR7,DQ2 haplotypes from DR7,DQ9 haplotypes, and by "subtraction analysis" of haplotype frequencies...
February 1996: Tissue Antigens
A Mannion, F M Stevens, C F McCarthy, H Grimes-O'Cearbhaill, A A Killeen
The highest reported prevalence of celiac disease (gluten-sensitive enteropathy) is found in the West of Ireland. Recent genetic data have suggested that major histocompatibility complex-linked loci may have a dominant genetic effect for disease susceptibility in this population compared with a recessive effect in other groups. To further understand the role of the MHC in celiac disease in the West of Ireland, we analyzed markers for 22 MHC haplotypes from celiac patients and compared them with 18 nontransmitted haplotypes found in the parents of celiac children, and with reported haplotypes from other populations...
February 1, 1993: American Journal of Medical Genetics
M Bourke, M O'Donovan, F M Stevens, C F McCarthy
alpha 1 antitrypsin or protease inhibitor (Pi) phenotyping was carried out on 111 coeliac disease patients (CD) and 250 controls. The Pi MM phenotype was present in 95 (85.6%) of the coeliacs and 225 (90%) of the controls. The groups did not differ significantly with regard to Pi phenotypes. In the CD group the Pi Phenotype did not relate to HLA B8 or DR3 status. Associated diseases in the CD patients did not correlate with Pi phenotype.
May 1993: Irish Journal of Medical Science
T Arai, J P Michalski, C C McCombs, R C Elston, C F McCarthy, F M Stevens
Although celiac disease has one of the strongest human lymphocyte antigen (HLA) class II associations of any human illness, it is clear that at least one gene that is not linked to the HLA region also is required for its pathogenesis. The occurrence of large numbers of gamma delta T cells in the bowel mucosa of patients and the recent description of T cell receptor (TCR) gamma chain polymorphic variants identified by restriction fragment length polymorphism analysis led the authors to examine TCR gamma genotypes in relation to HLA-DR, DQ genotypes in 89 patients with celiac disease and 55 control subjects from the West of Ireland...
March 1995: American Journal of the Medical Sciences
T J Kiernan, F M Stevens, M Bourke, C F McCarthy
No abstract text is available yet for this article.
February 1980: Irish Journal of Medical Science
B R O'Driscoll, F M Stevens, T A O'Gorman, P Finnegan, J J McWeeney, M P Little, C E Connolly, C F McCarthy
HLA, A, B, and DR typing was done on seven of 10 patients with lymphoma, and six patients with carcinoma, all of whom had a flat small intestinal mucosa. Sixty-nine per cent (nine of 13) had HLA B8 and 71% (five of seven) had DR3. The corresponding levels for the local coeliac population are 76% and 84% respectively and the local non-coeliac population 43% and 44%. Two of the patients with lymphoma had a child with coeliac disease. The histological type of the lymphoma was malignant histiocytosis of the intestine in seven, histiocytic lymphoma in two, and was not classifiable in one...
August 1982: Gut
F M Stevens, M G Fallon, C F McCarthy, H Grimes
In a control population of 127 healthy adults in the West of Ireland, the possession of the HLA-antigens associated with idiopathic haemochromatosis (IH), i.e. HLA-A3, B7 and B14 was not accompanied by higher levels of serum iron, total iron binding capacity (TIBC) or transferrin saturation (TS%). HLA-A3 does not appear to confer enhanced ability to absorb dietary iron.
May 1983: Tissue Antigens
R McKenna, F M Stevens, B McNicholl, S Scholz, E Albert, C F McCarthy
Tissue typing (HLA-A, -B and -DR) was carried out on 92 patients with coeliac disease (CD) and on a further 71 first degree relatives of 13 of these patients. Results of antigen frequencies in unrelated patients and segregation analysis in families shows that HLA-DR3 but not HLA-DR7 is positively associated with CD. Haplotype and sib-pair data from these coeliac families suggest that with all of them, genetic susceptibility to CD lies in the HLA region of the sixth chromosome. In families where the coeliac proband has HLA-DR3, the relative risk to siblings who also have this antigen is increased 35 times...
September 1983: Tissue Antigens
R McKenna, E D Albert, C F McCarthy
No abstract text is available yet for this article.
July 1984: Irish Journal of Medical Science
H Staunton, P Dervan, R Kale, R P Linke, P Kelly
Seven cases of chronic sensorimotor polyneuropathy due to amyloidosis, from 7 different families, are described, in addition to the pathology in a sibling of 1 case. The age of onset ranged from 55 to 72 years. Cardiac involvement, intermittent diarrhoea and syncopal attacks were a frequent occurrence. Motor conduction velocity showed a moderate degree of slowing in 5 of 6 cases studied and marked slowing in 1. Amyloid deposits were seen in nerve biopsy material of all 8 subjects and in rectal mucosa from 1...
October 1987: Brain: a Journal of Neurology
M McDermott, M Molloy, P Cashin, M McMahon, S Spencer, S Jennings, A Sneyd, J Greally, A Silman, W Ollier
A study of 26 families with multiple cases of RA was conducted in South West Ireland. In 149 relatives examined, 67 cases of RA were identified. An analysis of affected sibling pairs and trios revealed significant linkage between HLA and RA (p less than 0.05). A high frequency of DR4 was observed in probands (80.7 per cent) and affected members (74.6 per cent) compared with controls (18 per cent). An elevated frequency of the haplotypes A2-B44-DR4 (19.2 per cent) and A2-Bw62-DR4 (5.7 per cent) was seen in the affected sample...
June 1986: Disease Markers
J L Hernández, J P Michalski, C C McCombs, C F McCarthy, F M Stevens, R C Elston
Although coeliac disease (CD) is strongly associated with the HLA alleles B8 and DR3, the genetic basis of this illness remains obscure. Recent studies show that at least two unlinked loci are involved. Most studies agree on recessivity at the HLA-unlinked locus but differ with respect to dominance or recessivity at the HLA-linked disease susceptibility locus. To address this controversy, we examined the association of CD with HLA in 39 families from the West of Ireland. Previous studies have shown that the prevalence of CD and the frequencies of the HLA antigens associated with it are higher in this population than in most others...
1991: Genetic Epidemiology
D A Savage, D Middleton, F Trainor, A Taylor, M Carson, F M Stevens, C F McCarthy
Restriction fragment length polymorphism analysis, using a single restriction enzyme TaqI-multiple-probe system for HLA-DRB1-DQB1 and -DQA1, was used to determine HLA-DR and -DQ frequencies in 56 unrelated celiac patients and 47 unrelated controls from the west of Ireland. In addition, HLA-DPB1 allelic frequencies were determined in the same group of patients and controls by using the technique of enzymatic DNA amplification of the polymorphic second exon of HLA-DPB1 genes in conjunction with sequence-specific oligonucleotide probing...
May 1992: Human Immunology
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