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Polymorphism, Genetic
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The aim of this study was to examine if Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma gene could play a role in birth weight and duration of gestation
Abstract:
The links between preterm birth, low birth weight, and adult vascular/metabolic morbidity remain unclear. Genetic susceptibility of babies related to these three conditions might contribute to this long-term association. We tested whether the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor gamma (PPARG) gene could play a role in birth weight and duration of more...
International Classification:
Pregnancy, childbirth and the puerperium - birth weight
Categories:
birth weight; duration of gestation
Geography:
Northern Ireland
Diabetes,
Vol: 56 Page: 494-498 2007
A. Meirhaeghe; C. A. G. Boreham; L. J. Murray; F. Richard; G. Davey Smith; I. S. Young; P. Amouyel
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The aim of this study was to examine the association between the allele 2 of the interleukin 1 receptor antagonist gene
Abstract:
BACKGROUND AND AIMS: An association between the allele 2 of the interleukin 1 receptor antagonist gene variable number tandem repeats polymorphism in intron 2 and ulcerative colitis was first reported in 1994. Subsequent studies in Caucasian Northern European patients have not confirmed this, although trends towards an association were observed. The lack of statistical significance more...
International Classification:
Diseases of the digestive system - Noninfective enteritis and colitis - ulcerative colitis
Categories:
allele 2 of the interleukin 1 receptor antagonist gene variable; -ulcerative colitis
Geography:
International
Gut,
Vol: 48 Page: 461-7 April 2001
M. J. Carter; F. S. di Giovine; S. Jones; J. Mee; N. J. Camp; A. J. Lobo; G. W. Duff
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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 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 examine the frequencies of common cystic fibrosis mutations occurring in an Irish population composed of samples collected from western, mid-western and southern regions of Ireland
Abstract:
The incidence of cystic fibrosis (CF) at birth in Ireland is 1/1461. Neonate CF genetic testing is not routinely performed in Ireland. Currently, screening is only carried out where there is clinical evidence or a family history to suggest disease. Here we report the frequencies of common CF mutations occurring in an Irish population composed of samples collected from western, more...
International Classification:
Endocrine, nutritional and metabolic diseases - Metabolic disorders - cystic fibrosis
Categories:
cystic fibrosis mutations;
Geography:
Republic of Ireland
Clin Genet,
Vol: 63 Page: 121-5 February 2003
J. Devaney; M. Glennon; G. Farrell; M. Ruttledge; T. Smith; J. A. Houghton; M. Maher
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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 describe first neuronally expressed exon 1 at the dopa decarboxylase gene and two microsatellite markers flanking the gene were investigated for possible association with attention-deficit hyperactivity disorder
Abstract:
Dopa decarboxylase (DDC) is an enzyme which catalyses the decarboxylation of both dopa to dopamine and L-5 hydroxytryptophan to serotonin. Both catecholamines are major neurotransmitters of the mammalian nervous system. It has been suggested that genes involved in the dopaminergic system play a primary role in predisposing to attention deficit hyperactivity disorder (ADHD). In this more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Mol Psychiatry,
Vol: 6 Page: 420-4 July 2001
Z. Hawi; D. Foley; A. Kirley; M. McCarron; M. Fitzgerald; M. Gill
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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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The aim of this study was to examine the genotype of C. parvum oocysts isolated from human faeces in sporadic cases of cryptosporidiosis in Northern Ireland
Abstract:
BACKGROUND: Cryptosporidium parvum is the most common of the protozoal pathogens associated with gastrointestinal disease in Northern Ireland. Genotyping techniques are valuable in helping to elucidate sources and modes of transmission of this parasite. There have been no reports on the prevalence of genotypes in Northern Ireland, mainly due to a lack of discriminatory genotyping more...
International Classification:
Certain infectious and parasitic diseases - Intestinal infectious diseases - cryptosporidiosis
Categories:
cryptosporidiosis
Geography:
Northern Ireland
Ir J Med Sci,
Vol: 170 Page: 246-50 2001 Oct-Dec
C. J. Lowery; B. C. Millar; J. E. Moore; J. Xu; L. Xiao; P. J. Rooney; L. Crothers; J. S. Dooley
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The aim of this study was to examine the prevalence of variant genotypes in mothers who had given birth to a child with Down syndrome and in control mothers, and investigated the biochemical factors influenced by the presence of MTRR A66G and MTHFR C677T
Abstract:
Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) have been linked to the etiology of Down syndrome. We examined the prevalence of these variant genotypes in mothers who had given birth to a child with Down syndrome (n = 48) and in control mothers (n = 192), and investigated the more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Chromosomal abnormalities, not elsewhere classified - Down Syndrome
Categories:
variant genotypes; -Down syndrome
Geography:
Republic of Ireland
Am J Med Genet,
Vol: 107 Page: 151-5 January 2002
V. B. O'Leary; A. Parle-McDermott; A. M. Molloy; P. N. Kirke; Z. Johnson; M. Conley; J. M. Scott; J. L. Mills
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The aim of this study was to examine DNA variants in the RET gene in total intestinal aganglionosis patients using the WAVE DNA Fragment Analysis System
Abstract:
BACKGROUND/PURPOSE: Total intestinal aganglionosis (TIA) extending from the duodenum to the rectum is the most rare form of Hirschprung's disease (HSCR) and usually is fatal. RET is the major gene associated with HSCR, and germline mutations of this gene account for up 50% of familial and up to 15 to 20% of sporadic cases in HSCR. The aim of this study was to investigate DNA variants in more...
International Classification:
Other - intestinal aganglionosis
Categories:
total intestinal aganglionosis
Geography:
Republic of Ireland
J Pediatr Surg,
Vol: 38 Page: 497-501 March 2003
V. Solari; S. Ennis; A. Yoneda; L. Wong; A. Messineo; M. E. Hollwarth; A. Green; P. Puri
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The aim of this study was to examine examined the alpha 4 receptor, one of the sites of action of ABT-418 to examine the effect of nicotine in families with ADHD
Abstract:
Attention deficit hyperactivity disorder (ADHD) is a highly heritable, common psychiatric disorder that presents in childhood and that probably involves several genes. There are several lines of evidence suggesting that the nicotinic system may be functionally significant in ADHD: (a) nicotine promotes the release of dopamine and has been shown to improve attention in adults with ADHD, more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland and the United Kingdom
Psychiatr Genet,
Vol: 11 Page: 37-40 March 2001
L. Kent; F. Middle; Z. Hawi; M. Fitzgerald; M. Gill; C. Feehan; N. Craddock
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The aim of this study was to examine the association between catechol-O-methyltransferase gene polymorphism and attention deficit hyperactivity disorder in an Irish sample
Abstract:
Pharmacological and biochemical studies have indicated that imbalances in dopaminergic transmission may contribute to the aetiology of attention deficit hyperactivity disorder (ADHD). The enzyme catechol-O-methyltransferase (COMT) plays a key role in the degradation of catecholamines such as dopamine, L-DOPA, adrenaline, and noradrenaline and therefore could be considered as a candidate more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Am J Med Genet,
Vol: 96 Page: 282-4 June 2000
Z. Hawi; N. Millar; G. Daly; M. Fitzgerald; M. Gill
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The aim of this study was to examine the association of the dopamine DRD4 receptor gene polymorphism with attention deficit hyperactivity disorder in the Irish population
Abstract:
Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent childhood-onset syndromes affecting 3%-6% of school-age children worldwide. Although the biological basis of ADHD is unknown, a dopaminergic abnormality has long been suggested. The dopamine D4 receptor gene (DRD4) has been mapped to chromosome 11p15.5 and has been implicated in predisposition to ADHD. Several more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention deficit hyperactivity disorder
Geography:
Republic of Ireland
Am J Med Genet,
Vol: 96 Page: 268-72 June 2000
Z. Hawi; M. McCarron; A. Kirley; G. Daly; M. Fitzgerald; M. Gill
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The aim of this study was to investigate association of DRD4 polymorphisms with attention deficit hyperactivity disorder subtypes for which there is evidence for increased heritability.
Abstract:
The objective of this study was to investigate association of DRD4 polymorphisms with ADHD subtypes for which there is evidence for increased heritability. The genetic variants tested were the 120 bp insertion/deletion, the -616, -521, -376, and the 48 bp DRD4 VNTR. The primary analyses were of association with oppositional defiant disorder (ODD), conduct disorder (CD), and diagnostic more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Am J Med Genet B Neuropsychiatr Genet,
Vol: 131B Page: 38-42 November 2004
A. Kirley; N. Lowe; C. Mullins; M. McCarron; G. Daly; I. Waldman; M. Fitzgerald; M. Gill; Z. Hawi
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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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This aim of this study was to screen for a new MTHFR polymorphisms and neural tube defect risk
Abstract:
The enzyme, 5,10-methylenetetrahydrofolate reductase (MTHFR) plays a key role in cellular folate metabolism. The A222V (677C->T) polymorphism is a confirmed neural tube defect (NTD) risk factor within Irish and other populations. To search for other unknown single nucleotide polymorphisms (SNPs) that might play a role in the etiology of NTDs, we examined the entire MTHFR coding region more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - neural tube defects - condiction
Categories:
polymorphisms; neural tube defect
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 138A Page: 99-106 October 2005
V. B. O'Leary; J. L. Mills; A. Parle-McDermott; F. Pangilinan; A. M. Molloy; C. Cox; A. Weiler; M. Conley; P. N. Kirke; J. M. Scott; L. C. Brody
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The aim of this study was to examine the C677T polymorphism in the methylenetetrahydrofolate reductase gene, maternal use of folic acid supplements, and risk of isolated clubfoot
Abstract:
Worldwide, 1-4 per 1,000 births are affected by clubfoot. Clubfoot etiology is unclear, but both genetic and environmental factors are thought to be involved. Low folate status in pregnant women has been implicated in several congenital malformations, and folate metabolism may be affected by polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR). Using a case-parent-triad more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities or Disease of the musculoskeletal system and connective tissue-clubfoot
Categories:
clubfoot
Geography:
the United Kingdom
Am J Epidemiol,
Vol: 164 Page: 852-61 November 2006
L. Sharp; Z. Miedzybrodzka; A. H. Cardy; J. Inglis; L. Madrigal; S. Barker; D. Chesney; C. Clark; N. Maffulli
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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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The aim of this study was to examine the association of methionine allele of the COMT polymorphism which impairs prefrontal cognition in children and adolescents with attention-deficit hyperactivity disorder
Abstract:
ADHD is a highly heritable psychiatric disorder of childhood. A functional polymorphism (Val158Met) of the catechol-O-methyltransferase (COMT) gene has attracted interest as a candidate gene for ADHD. The high-activity valine variant of this polymorphism degrades prefrontal dopamine three to four times more quickly than the low-activity methionine variant and could therefore contribute more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Exp Brain Res,
Vol: 163 Page: 352-60 June 2005
M. A. Bellgrove; K. Domschke; Z. Hawi; A. Kirley; C. Mullins; I. H. Robertson; M. Gill
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The aim of this study was to provide representative normal population-based data, or data stratified according to age or gender on the distribution of the common prion protein gene (PRNP) codon 129 polymorphism
Abstract:
OBJECTIVES: The common prion protein gene (PRNP) codon 129 polymorphism modifies the susceptibility to and the phenotype of prion diseases. However, no truly representative normal population-based data, or data stratified according to age or gender are available on the distribution of this polymorphism. MATERIAL AND METHODS: Allelic variation of codon 129 in three Finnish populations more...
International Classification:
Other - prion protein gene
Categories:
prion protein gene
Geography:
International
Acta Neurol Scand,
Vol: 108 Page: 374-8 November 2003
M. H. Nurmi; M. Bishop; L. Strain; F. Brett; C. McGuigan; M. Hutchison; M. Farrell; R. Tilvis; S. Erkkila; O. Simell; R. Knight; M. Haltia
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The aim of this study was to examine the frequency of TNF-alpha gene polymorphism in patients with reflux nephropathy
Abstract:
PURPOSE: Interstitial scarring contributes to the progression of renal failure in reflux nephropathy. The proinflammatory cytokine tumor necrosis factor-alpha (TNF-alpha) has been implicated in the disease susceptibility and pathogenesis of several inflammatory diseases promoting interstitial infiltration of inflammatory cells. We evaluate the frequency of TNF-alpha gene polymorphism in more...
International Classification:
Diseases of the genitourinary system - reflux nephropathy
Categories:
TNF-alpha gene polymorphism; - reflux nephropathy
Geography:
Republic of Ireland
J Urol,
Vol: 172 Page: 1604-6; discussion 1606 October 2004
V. Solari; S. Ennis; S. Cascio; P. Puri
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