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Genetic Predisposition to Disease
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The aim of this study was to analysis the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk
Abstract:
BACKGROUND: Polymorphisms in the serine protease inhibitor gene serine peptidase inhibitor Kazal type 5 (SPINK5) and the serine protease kallikrein-related peptidase 7 gene (KLK7) appear to confer risk to eczema in some cohorts, but these findings have not been widely replicated. These genes encode proteins thought to be involved in the regulation of posttranslation processing of more...
International Classification:
Diseases of the skin and subcutaneous tissue - Dermatitis and eczema - eczema
Categories:
range of polymorphisms; -eczema risk
Geography:
International
J Allergy Clin Immunol,
Vol: 122 Page: 560-8 e4 September 2008
S. Weidinger; H. Baurecht; S. Wagenpfeil; J. Henderson; N. Novak; A. Sandilands; H. Chen; E. Rodriguez; G. M. O'Regan; R. Watson; H. Liao; Y. Zhao; J. N. Barker; M. Allen; N. Reynolds; S. Meggitt; K. Northstone; G. D. Smith; C. Strobl; C. Stahl; T. Kneib; N. Klopp; T. Bieber; H. Behrendt; C. N. Palmer; H. E. Wichmann; J. Ring; T. Illig; W. H. McLean; A. D. Irvine
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The aim of this study was to examine the association between the 1298A-->C polymorphism and 677C-->T polymorphism and neural tube defect in 276 complete triades (mother, father and child affected with an NTD)
Abstract:
The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A-->C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. Our findings more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction
Categories:
neural tube defects - MTHFR 1298A-->C polymorphism; -
Geography:
Republic of Ireland
J Hum Genet,
Vol: 48 Page: 190-3 2003
A. Parle-McDermott; J. L. Mills; P. N. Kirke; V. B. O'Leary; D. A. Swanson; F. Pangilinan; M. Conley; A. M. Molloy; C. Cox; J. M. Scott; L. C. Brody
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The aim of this study was to examine the association between proline oxidase and schizophrenia
International Classification:
Mental and behavioural disorders - Schizophrenia, schizotypal and delusional disorders - schizophrenia
Categories:
proline oxidase; -schizophrenia
Geography:
Republic of Ireland and the United Kingdom
Mol Psychiatry,
Vol: 8 Page: 644-5 July 2003
H. J. Williams; N. Williams; G. Spurlock; N. Norton; D. Ivanov; R. G. McCreadie; A. Preece; V. Sharkey; S. Jones; S. Zammit; I. Nikolov; I. Kehaiov; A. Thapar; K. C. Murphy; G. Kirov; M. J. Owen; M. C. O'Donovan
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The aim of this study was to investigate the genetic contribution of transforming growth factor-beta1 in familial vesicoureteral reflux by examining the genotype frequencies of transforming growth factor-beta1 polymorphic variants
Abstract:
PURPOSE: Familial clustering of vesicoureteral reflux suggests that genetic factors have an important role in the pathogenesis of vesicoureteral reflux. Transforming growth factor-beta1 is a multifunctional peptide that controls proliferation and differentiation in many cell types. Recently an association between the transforming growth factor-beta1 -509 and +869 gene polymorphism, and more...
International Classification:
Diseases of the genitourinary system - Renal tubulo-interstitial diseases - vesicoureteric reflux
Categories:
growth factor-beta1 in; vesicoureteral reflux
Geography:
Republic of Ireland
J Urol,
Vol: 178 Page: 1650-3 October 2007
S. Kuroda; V. Solari; P. Puri
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The aim of this study was to investigate genotype frequencies for polymorphisms of the TGF-beta1 gene at position -509, codon 10 and 25, and examine circulating levels of TGF-beta1 in patients with reflux nephropathy
Abstract:
PURPOSE: Reflux nephropathy (RN) is recognized as a major cause of end stage renal failure in children and young adults. Transforming growth factor-beta1 (TGF-beta1) is a potent proinflammatory and fibrogenetic cytokine known to have a key role in the regulation of renal tissue fibrosis. We investigate genotype frequencies for polymorphisms of the TGF-beta1 gene at position -509, codon more...
International Classification:
Diseases of the genitourinary system - reflux nephropathy
Categories:
genotype frequencies for polymorphisms of the TGF-beta1 gene; - reflux nephropathy
Geography:
Republic of Ireland
J Urol,
Vol: 174 Page: 1609-11; discussion 1611 October 2005
V. Solari; D. Owen; P. Puri
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This article discusses a gene for atopic dermatitis
Abstract:
We have recently shown that loss-of-function mutations in the filaggrin gene, carried by about 10% of people of European ethnicity, cause ichthyosis vulgaris and are strong predisposing factors for atopic dermatitis and asthma secondary to atopic dermatitis. These results demonstrate a prominent role for the epidermal barrier in atopic disease and have important implications for the more...
Geography:
Republic of Ireland
J Invest Dermatol,
Vol: 126 Page: 1200-2 June 2006
A. D. Irvine; W. H. McLean
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The aim of this study was to identify and investigate care for children born, over a 17-year period (1980-1996), with cleft lip and/or palate (CL/P) in the Western Health Board region of Ireland
Abstract:
The aim of this study was to identify and investigate care for children born, over a 17-year period (1980-1996), with cleft lip and/or palate (CL/P) in the Western Health Board region of Ireland. One hundred and six cleft-affected children were identified. The incidence was 1.14 per thousand (1:871) live births. Epidemiological findings in relation to cleft type, gender, family history, more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Cleft lip and/or palate
Categories:
Cleft lip and/or palate
Geography:
Republic of Ireland
Spec Care Dentist,
Vol: 20 Page: 143-6 2000 Jul-Aug
A. R. Hewson; C. M. McNamara
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The aim of this study was to describe the presenting features of type 1 diabetes in a national incident cohort aged under 15 years
Abstract:
OBJECTIVE: To identify the presenting features of type 1 diabetes in a national incident cohort aged under 15 yr, the duration of symptoms, the occurrence of diabetic ketoacidosis (DKA) at presentation, and the frequency of a family history of diabetes. METHODS: A prospective study was undertaken of incident cases of type 1 diabetes using an active monthly reporting card system from more...
International Classification:
Endocrine, nutritional and metabolic diseases - Diabetes mellitus - type 1 diabetes mellitus
Categories:
type 1 diabetes; diabetic ketoacidosis
Geography:
Republic of Ireland
Pediatr Diabetes,
Vol: 6 Page: 75-8 June 2005
E. F. Roche; A. Menon; D. Gill; H. Hoey
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The aim of this study was to examine a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population
Abstract:
Genetic and environmental factors contribute to the etiology of neural tube defects (NTDs). While periconceptional folic acid supplementation is known to significantly reduce the risk of NTDs, folate metabolic pathway related factors do not account for all NTDs. Evidence from mouse models indicates that the tumor protein p53 (TP53) is involved in implantation and normal neural tube more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction
Categories:
genetic variation in TP53; -neural tube defect
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 146A Page: 2617-25 October 2008
F. Pangilinan; K. Geiler; J. Dolle; J. Troendle; D. A. Swanson; A. M. Molloy; M. Sutton; M. Conley; P. N. Kirke; J. M. Scott; J. L. Mills; L. C. Brody
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The aim of this study was to determine whether functional cytokine gene polymorphisms influence disease susceptibility and phenotype in patients with psoriatic arthritis
Abstract:
OBJECTIVE: To determine whether functional cytokine gene polymorphisms influence disease susceptibility and phenotype in patients with psoriatic arthritis (PsA). METHODS: DNA was obtained from 147 PsA patients and 389 controls. Seven functional proinflammatory (interleukin-1beta [IL-1beta] +3953, IL-6 -174, tumor necrosis factor alpha [TNFalpha] -308, TNFbeta +252) and antiinflammatory more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - Papulosquamous disorders - psoriatic arthritis
Categories:
functional cytokine gene polymorphisms; -psoriatic arthritis
Geography:
Republic of Ireland
Arthritis Rheum,
Vol: 48 Page: 1408-13 May 2003
J. Balding; D. Kane; W. Livingstone; L. Mynett-Johnson; B. Bresnihan; O. Smith; O. FitzGerald
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The aim of this study was to examine sustained attention, response variability and spatial attentional asymmetries in children and adolescents with attention deficit hyperactivity disorder in relation to dopamine transporter genotype (DAT1)
Abstract:
ADHD is a childhood-onset behavioural disorder with a heterogeneous profile of neuropsychological impairment. Neuropsychological heterogeneity may, in part, reflect underlying genetic differences. Here we examined sustained attention, response variability and spatial attentional asymmetries in a sample of children and adolescents with ADHD (n=22) in relation to dopamine transporter more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention deficit hyperactivity disorder
Categories:
sustained attention; response variability; spatial attentional asymmetries; attention deficit hyperactivity disorder
Geography:
Republic of Ireland
Neuropsychologia,
Vol: 43 Page: 1847-57 2005
M. A. Bellgrove; Z. Hawi; A. Kirley; M. Gill; I. H. Robertson
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The aim of this study was to whether genetic risk for psychosis related to differences in foetal brain development as measured by prenatal ultrasonography
Abstract:
Cerebral ventricular enlargement and reduced cortical volume are correlates of chronic schizophrenia. We investigated whether genetic risk for psychosis related to differences in foetal brain development as measured by prenatal ultrasonography. Routine foetal cerebral measures at 19-23 weeks of gestation were compared between the offspring of 35 women with a history of psychosis and 105 more...
International Classification:
Mental and behavioural disorders - psychosis
Categories:
foetal brain development; -psychosis
Geography:
the United Kingdom
Br J Psychiatry,
Vol: 190 Page: 445-6 May 2007
M. C. Clarke; M. Cannon; M. W. Hogg; M. N. Marks; S. Conroy; S. J. Pawlby; A. Greenough; K. Nicolaides
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This study aimed to assess general practitioners' responses to three scenarios in which patients consulted regarding genetic conditions
Abstract:
OBJECTIVE: This study investigated general practitioners' responses to three scenarios in which patients consulted regarding genetic conditions. DESIGN: Self-completed postal study. Setting. Primary care in Northern Ireland. SUBJECTS: Questionnaire were distributed to all the GPs in Northern Ireland (n = 1079). A total of 541 GPs participated (50%). MAIN OUTCOME MEASURES: Responses to more...
International Classification:
Practice/knowledge - general consultations
Categories:
general consultations;
Geography:
Northern Ireland
Scand J Prim Health Care,
Vol: 23 Page: 109-14 June 2005
S. McCann; D. MacAuley; Y. Barnett
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The aim of this study was to examine the prevalence of the genetic form of hereditary hemochromatosis in the Irish population
Abstract:
In populations of northern European ancestry, hereditary hemochromatosis (HH) is tightly linked to mutations within the hemochromatosis gene (HFE gene). Over 93% of Irish HH patients are homozygous for the HFE gene C282Y mutation, providing a reliable diagnostic marker of the disease in this population. However, the prevalence of the C282Y mutation and that of the second HFE gene more...
International Classification:
Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified - Abnormal findings on examination of blood, without diagnosis - hereditary hemochromatosis
Categories:
hereditary hemochromatosis
Geography:
Republic of Ireland
Genet Test,
Vol: 5 Page: 127-30 2001 Summer
V. Byrnes; E. Ryan; S. Barrett; P. Kenny; P. Mayne; J. Crowe
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The aim of this study was to investigate a large cohort of children with juvenile dermatomyositis, and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization.
Abstract:
OBJECTIVES: To investigate a large cohort of children with juvenile dermatomyositis (JDM), and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization. METHODS: Children (114) with JDM were recruited, and clinical data collected, through the JDM National Registry and Repository (UK and Ireland). Sera were more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - Systemic connective tissue disorders - dermatomyositis
Categories:
HLA class II genotyping; juvenile dermatomyositis
Geography:
Republic of Ireland and the United Kingdom
Rheumatology (Oxford),
Vol: 46 Page: 1786-91 December 2007
L. R. Wedderburn; N. J. McHugh; H. Chinoy; R. G. Cooper; F. Salway; W. E. Ollier; L. J. McCann; H. Varsani; J. Dunphy; J. North; J. E. Davidson
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The aim of this study was to study Irish patients with psoriasis to investigate the relationship between streptococcal infections and Cw*06.
Abstract:
BACKGROUND: Streptococcal throat infections and HLA Cw6 (Cw*06) have been implicated in the pathogenesis of psoriasis, particularly in the guttate form. OBJECTIVES: To study 105 Irish patients with psoriasis to investigate the relationship between streptococcal infections and Cw*06. METHODS: The patients were divided into two groups: those with guttate psoriasis or guttate flare more...
International Classification:
Diseases of the skin and subcutaneous tissue - Papulosquamous disorders - psoriasis
Categories:
streptococcal infections; Cw*06; -psoriasis
Geography:
Republic of Ireland
Br J Dermatol,
Vol: 154 Page: 850-3 May 2006
L. Fry; A. V. Powles; S. Corcoran; S. Rogers; J. Ward; D. J. Unsworth
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The aim of this study was to examine the role of the c242T polymorphism in ischaemic heart disease
Abstract:
Ischaemic heart disease is a complex phenotype arising from the interaction of genetic and environmental factors. Excessive production of reactive oxygen species leading to endothelial dysfunction is believed to be important in the pathogenesis of ischaemic heart disease. The NAD(P)H oxidase system generates superoxide anions in vascular cells; however, the role of the C242T more...
International Classification:
Diseases of the circulatory system - ischaemic heart disease
Categories:
ischaemic heart disease
Geography:
Republic of Ireland and the United Kingdom
Clin Sci (Lond),
Vol: 105 Page: 677-82 December 2003
M. S. Spence; P. G. McGlinchey; C. C. Patterson; A. R. Allen; G. Murphy; U. Bayraktutan; D. G. Fogarty; A. E. Evans; P. P. McKeown
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This article discusses known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural tube defects and causative genes, if known
Abstract:
Although most neural tube defects (anencephaly, spina bifida) occur as isolated malformations, a substantial proportion are attributable to chromosome anomalies, known teratogens, or component manifestations of multiple anomaly syndromes. This review describes known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural more...
Geography:
Republic of Ireland
Am J Med Genet C Semin Med Genet,
Vol: 135C Page: 69-76 May 2005
S. A. Lynch
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The aim of this study was to examine polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects
Abstract:
Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B(12) (B(12)) dependent enzymes in humans. A lower level of B(12) has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B(12) dependent enzymes. To investigate the role of methylmalonyl-CoA mutase variants more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction
Categories:
vitamin B12 dependent methylmalonyl-coA mutase; -neural tube defects
Geography:
Republic of Ireland
Mol Genet Metab,
Vol: 80 Page: 463-8 December 2003
A. Parle-McDermott; E. J. McManus; J. L. Mills; V. B. O'Leary; F. Pangilinan; C. Cox; A. Weiler; A. M. Molloy; M. Conley; D. Watson; J. M. Scott; L. C. Brody; P. N. Kirke
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The aim of this study was to describe prophylactic thyroidectomy in the treatment of thyroid medullary carcinoma
Abstract:
Since the association of RET proto-oncogene mutations and medullary thyroid carcinoma in children there has been much discussion regarding timing of surgery. Our study group was formed from a brother and sister (8 and 5) and 3 brothers (9, 13, 16) selected on the basis of a positive family history for thyroid medullary carcinoma. Histological examinations of the thyroidectomy specimens more...
International Classification:
Neoplasms - Malignant neoplasms - thyroid medullary carcinoma
Categories:
Prophylactic thyroidectomy; thyroid medullary carcinoma
Geography:
Republic of Ireland
Eur J Pediatr Surg,
Vol: 10 Page: 334-6 October 2000
S. Hassett; C. Costigan; M. McDermott; R. J. Fitzgerald
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The aim of this study was to examine the application of cognitive genetics to the study of attention deficit hyperactivity disorder
Abstract:
Here we describe the application of cognitive genetics to the study of attention deficit hyperactivity disorder (ADHD). Cognitive genetics owes much to the pioneering work of cognitive neuropsychologists such as John Marshall, whose careful observations of cognitive dissociations between brain-lesioned patients greatly advanced the theoretical understanding of normal cognitive function. more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention deficit hyperactivity disorder
Categories:
cognitive genetics; attention deficit hyperactivity disorder
Geography:
Republic of Ireland
Cortex,
Vol: 42 Page: 838-45 August 2006
M. A. Bellgrove; Z. Hawi; M. Gill; I. H. Robertson
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The aim of this study was to investigate case-control and family-based association studies, using the transmission disequilibrium test, to investigate if allele 1 is associated with early-onset type 1 diabetes
Abstract:
A recent study employing Australian and UK type 1 diabetes families has demonstrated significant transmission bias to affected offspring of a polymorphism (1188A allele; termed allele 1) in the 3' untranslated region (3'UTR) of the interleukin 12B (IL12B) gene which encodes the IL-12p40 subunit of the pro-inflammatory cytokine IL-12. However, results from replication studies in other more...
International Classification:
Endocrine, nutritional and metabolic diseases - Diabetes mellitus - type 1 diabetes mellitus
Categories:
allele 1; - type 1 diabetes
Geography:
Northern Ireland
Genes Immun,
Vol: 3 Page: 433-5 November 2002
R. M. McCormack; A. P. Maxwell; D. J. Carson; C. C. Patterson; D. Middleton; D. A. Savage
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