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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 12, 2006
Volume 16, No. 2

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These articles report on population prevalence of genotypes, gene-disease associations, gene-environment and gene-gene interactions and evaluation of genetic tests.



Gene Variant Frequency

Characterization of Common UGT1A8, UGT1A9, and UGT2B7 Variants with Different Capacities to Inactivate Mutagenic 4-Hydroxylated Metabolites of Estradiol and Estrone
Thibaudeau J, et al.
Cancer Res 2006 Jan;66(1):125-33

 

Infectious and Parasitic Diseases

Association study of major risk single nucleotide polymorphisms in the common regulatory region of PARK2 and PACRG genes with leprosy in an Indian population
Malhotra D, et al.
Eur J Hum Genet 2005 Dec

Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N polymorphism
Stienstra Y, et al.
Genes Immun 2006 Jan

Human toll-like receptor 4 mutations are associated with susceptibility to invasive miningococcal disease in infancy
Faber J, et al.
Pediatr Infect Dis J 2006 Jan;25(1):80-1

Pharmacogenetics of plasma efavirenz exposure after treatment discontinuation: an Adult AIDS Clinical Trials Group Study
Ribaudo HJ, et al.
Clin Infect Dis 2006 Feb;42(3):401-7

Aspartic Acid Homozygosity at Codon 57 of HLA-DQ {beta} Is Associated with Susceptibility to Pulmonary Tuberculosis in Cambodia
Delgado JC, et al.
J Immunol 2006 Jan;176(2):1090-7

 

Neoplasms

Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study for metabolic and DNA repair gene polymorphisms
Sugimura T, et al.
J Oral Pathol Med 2006 Jan;35(1):11-8

Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs
Gaustadnes M, et al.
Hum Mutat 2006 Jan

Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph Consortium
Rothman N, et al.
Lancet Oncol 2006 Jan;7(1):27-38

Association of CTLA-4 gene polymorphism with oral squamous cell carcinoma
Wong YK, et al.
J Oral Pathol Med 2006 Jan;35(1):51-4

A Functional Promotor Polymorphism of TNF-alpha Is Associated with Primary Gastric B-Cell Lymphoma
Hellmig S, et al.
Am J Gastroenterol 2005 Dec;100(12):2644-9

Identification of the NKG2D Haplotypes Associated with Natural Cytotoxic Activity of Peripheral Blood Lymphocytes and Cancer Immunosurveillance
Hayashi T, et al.
Cancer Res 2006 Jan;66(1):563-70

Impact of Cyclin D1 A870G Polymorphism in Esophageal Adenocarcinoma Tumorigenesis
Izzo JG, et al.
Semin Oncol 2005 Dec;32(6 Suppl 9):11-5

Peroxisome proliferator-activated receptor-gamma Pro12Ala polymorphism, Helicobacter pylori infection and non-cardia gastric carcinoma in Chinese
Liao SY, et al.
Aliment Pharmacol Ther 2006 Jan;23(2):289-94

 

Endocrine, Nutritional and Metabolic Diseases

N-acetyltransferase 2 polymorphism in patients with diabetes mellitus
Yalin S, et al.
Cell Biochem Funct 2006 Jan

Slowly progressing form of type 1 diabetes mellitus in children: genetic analysis compared with other forms of diabetes mellitus in Japanese children
Ohtsu S, et al.
Pediatr Diabetes 2005 Dec;6(4):221-9

HFE genotypes and dietary heme iron: No evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women
van der A DL, et al.
Nutr Metab Cardiovasc Dis 2006 Jan;16(1):60-8

Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitus
Felner EI, et al.
Pediatr Diabetes 2005 Dec;6(4):213-20

No Association Between the Microsatellite Polymorphism (TTTTA)( n ) in the Promoter of the CYP11A Gene and Ovarian Hyperstimulation Syndrome
Ferk P, et al.
J Assist Reprod Genet 2006 Jan:1-4

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing
Humphries SE, et al.
J Mol Med 2005 Dec:1-12

Glutathione-s-transferase M1 and T1 polymorphisms and associations with type 1 diabetes age-at-onset
Bekris LM, et al.
Autoimmunity 2005 Dec;38(8):567-75

Angiotensin-converting enzyme (ACE) inhibition in type 2, diabetic patients - interaction with ACE insertion/deletion polymorphism
So WY, et al.
Kidney Int 2006 Jan

Effects of Folic Acid Before and After Vitamin B12 on Plasma Homocysteine Concentrations in Hemodialysis Patients with Known MTHFR Genotypes
Pastore A, et al.
Clin Chem 2006 Jan;52(1):145-8

Genotyping of the Lactase-Phlorizin Hydrolase -13910 Polymorphism by LightCycler PCR and Implications for the Diagnosis of Lactose Intolerance
Bodlaj G, et al.
Clin Chem 2006 Jan;52(1):148-51

 

Mental Disorders

Protective effect of the apo epsilon2 allele in major depressive disorder in Taiwanese
Fan PL, et al.
Acta Psychiatr Scand 2006 Jan;113(1):48-53

Implication of SSAT by Gene Expression and Genetic Variation in Suicide and Major Depression
Sequeira A, et al.
Arch Gen Psychiatry 2006 Jan;63(1):35-48

Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder
Weller AE, et al.
Psychiatr Genet 2006 Feb;16(1):3-8

Significant Association of Catechol-O-Methyltransferase (COMT) Haplotypes with Nicotine Dependence in Male and Female Smokers of Two Ethnic Populations
Beuten J, et al.
Neuropsychopharmacology 2005 Dec

Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophrenia
Peirce TR, et al.
Arch Gen Psychiatry 2006 Jan;63(1):18-24

The Val66Met polymorphism of the brain-derived neurotrophic factor gene is associated with risk for psychosis: Evidence from a family-based association study
Rosa A, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jan

No association between the -399 C>T polymorphism of the neuropeptide Y gene and schizophrenia, unipolar depression or panic disorder in a Danish population
Lindberg C, et al.
Acta Psychiatr Scand 2006 Jan;113(1):54-8

Association between tryptophan hydroxylase gene polymorphisms and attention deficit hyperactivity disorder in Chinese Han population
Li J, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jan

TPH gene polymorphism and aging: Indication of combined effect on the predisposition to violent suicide
Stefulj J, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jan

Genetic association between schizophrenia and the DISC1 gene in the Scottish population
Zhang F, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jan

Anger Regulation Style, Postoperative Pain, and Relationship to the A118G Mu Opioid Receptor Gene Polymorphism: A Preliminary Study
Bruehl S, et al.
J Behav Med 2006 Jan:1-9

Serotonin transporter linked promoter (polymorphism) in the serotonin transporter gene may be associated with antidepressant-induced mania in bipolar disorder
Masoliver E, et al.
Psychiatr Genet 2006 Feb;16(1):25-9

Patient-control association study of substance P-related genes in unipolar and bipolar affective disorders
Mendlewicz J, et al.
Int J Neuropsychopharmacol 2005 Dec;8(4):505-13

A common haplotype of the dopamine transporter gene associated with attention-deficit/hyperactivity disorder and interacting with maternal use of alcohol during pregnancy
Brookes KJ, et al.
Arch Gen Psychiatry 2006 Jan;63(1):74-81

Possible association of the alpha-2A adrenergic receptor gene (ADRA2A) with symptoms of attention-deficit/hyperactivity disorder
Wang B, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jan

Schizophrenia and polymorphic cag repeats array of calcium-activated potassium channel (kcnn3) gene in serbian population
Ivkovic M, et al.
Int J Neurosci 2006 Feb;116(2):157-64

A neuronal nitric oxide synthase (NOS-I) haplotype associated with schizophrenia modifies prefrontal cortex function
Reif A, et al.
Mol Psychiatry 2006 Jan

Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia
Underwood SL, et al.
Mol Psychiatry 2006 Jan

Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis
Fehr C, et al.
Psychiatr Genet 2006 Feb;16(1):9-17

Possible association between response inhibition and a variant in the brain-expressed tryptophan hydroxylase-2 gene
Stoltenberg SF, et al.
Psychiatr Genet 2006 Feb;16(1):35-8

Absence of significant associations between four AKT1 SNP markers and schizophrenia in the Taiwanese population
Liu YL, et al.
Psychiatr Genet 2006 Feb;16(1):39-41

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database
Robertson L, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jan

 

Diseases of the Nervous System and Sense Organs

Association between apolipoprotein E epsilon4 allele and apathy in probable Alzheimer's disease
Monastero R, et al.
Acta Psychiatr Scand 2006 Jan;113(1):59-63

The Val66Met polymorphism of the brain-derived neurotrophic factor gene affects age-related brain morphology
Nemoto K, et al.
Neurosci Lett 2005 Dec

Apolipoprotein e genotype and age-related myelin breakdown in healthy individuals: implications for cognitive decline and dementia
Bartzokis G, et al.
Arch Gen Psychiatry 2006 Jan;63(1):63-72

CAG repeats in restless legs syndrome
Konieczny M, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jan

The 77C->G Mutation in the Human CD45 (PTPRC) Gene Leads to Increased Intensity of TCR Signaling in T Cell Lines from Healthy Individuals and Patients with Multiple Sclerosis
Do HT, et al.
J Immunol 2006 Jan;176(2):931-8

Folate and the methylenetetrahydrofolate reductase 677C-->T mutation correlate with cognitive performance
Durga J, et al.
Neurobiol Aging 2006 Feb;27(2):334-43

Dose dependent effect of APOE varepsilon4 on behavioral symptoms in frontal lobe dementia
Engelborghs S, et al.
Neurobiol Aging 2006 Feb;27(2):285-92

The Brain-Derived Neurotrophic Factor Gene as a Possible Susceptibility Candidate for Alzheimer's Disease in a Chinese Population
Tsai SJ, et al.
Dement Geriatr Cogn Disord 2006 Jan;21(3):139-43

A Ser9Gly Polymorphism in the Dopamine D3 Receptor Gene (DRD3) and Event-Related P300 Potentials
Mulert C, et al.
Neuropsychopharmacology 2006 Jan

The associations of ACE polymorphisms with physical, physiological and skill parameters in adolescents
Moran CN, et al.
Eur J Hum Genet 2006 Jan

 

Diseases of the Circulatory System

Thrombophilic abnormalities, oral contraceptives and risk of cerebral vein thrombosis: a meta-analysis
Dentali F, et al.
Blood 2006 Jan

Genetic Association of the Serotonin Transporter in Pulmonary Arterial Hypertension
Machado RD, et al.
Am J Respir Crit Care Med 2006 Jan

Methylenetetrahydrofolate Reductase Polymorphisms and Homocysteine-Lowering Effect of Vitamin Therapy in Singaporean Stroke Patients
Ho GY, et al.
Stroke 2006 Jan

The frequency of allelic polymorphism of genes encoding immunoproteasome catalytic subunits in acute coronary syndrome patients
Tsitol Genet 2005 Nov-2005 Dec;39(6):50-4

 

Diseases of the Respiratory System

Novel Polymorphisms in the Myosin Light Chain Kinase Gene Confer Risk for Acute Lung Injury
Gao L, et al.
Am J Respir Cell Mol Biol 2006 Jan

Genetically Increased Antioxidative Protection and Decreased Chronic Obstructive Pulmonary Disease
Juul K, et al.
Am J Respir Crit Care Med 2006 Jan

Association of G-308A TNF-alpha Polymorphism with Bronchial Asthma in a North Indian Population
Gupta V, et al.
J Asthma 2005 Dec;42(10):839-41

beta2-Adrenergic receptor polymorphisms in African American children with status asthmaticus*
Elbahlawan L, et al.
Pediatr Crit Care Med 2006 Jan;7(1):15-8

 

Diseases of the Digestive System

Iron binding saturation and genotypic testing for hereditary hemochromatosis in patients with liver disease
Nichols L, et al.
Am J Clin Pathol 2006 Feb;125(2):1-5

Intestinal permeability and genetic determinants in patients, first-degree relatives, and controls in a high-incidence area of Crohn's disease in southern Italy
Fries W, et al.
Am J Gastroenterol 2005 Dec;100(12):2730-6

Association of TNFA-308 gene polymorphisms with susceptibility to chronic periodontitis in Chinese patients
Pang RY, et al.
Shanghai Kou Qiang Yi Xue 2005 Dec;14(6):586-9

The association of eotaxin-2 and eotaxin-3 gene polymorphisms in a Korean population with ulcerative colitis
Park YR, et al.
Exp Mol Med 2005 Dec;37(6):553-8

Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis
De Jager PL, et al.
Eur J Hum Genet 2005 Dec

 

Diseases of the Genitourinary System

Tumor Necrosis Factor-alpha Gene G-308A Polymorphism Is a Risk Factor for the Development of Membranous Glomerulonephritis
Bantis C, et al.
Am J Nephrol 2006 Jan;26(1):12-5

INHA promoter polymorphisms are associated with premature ovarian failure
Harris SE, et al.
Mol Hum Reprod 2006 Jan

FEM1A is a candidate gene for polycystic ovary syndrome
Maher JF, et al.
Gynecol Endocrinol 2005 Dec;21(6):330-5

Controversial role of inhibin {alpha}-subunit gene in the aetiology of premature ovarian failure
Sundblad V, et al.
Hum Reprod 2006 Jan

Male infertility: no evidence of involvement of androgen receptor gene among Indian men
Singh R, et al.
J Androl 2006 Jan-2006 Feb;27(1):102-5

Vitamin D receptor gene polymorphisms in patients with urolithiasis
Gunes S, et al.
Urol Res 2006 Jan:1-6

Genetic Variation of the Renin-Angiotensin System and Chronic Kidney Disease Progression in Black Individuals in the Atherosclerosis Risk in Communities Study
Hsu CC, et al.
J Am Soc Nephrol 2006 Jan

Estrogen receptor {alpha} promoter polymorphism: stronger estrogen action is coupled with lower sperm count
Guarducci E, et al.
Hum Reprod 2006 Jan

Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome
Gonzalez A, et al.
Hum Reprod 2006 Jan

CC-chemokine receptor five gene polymorphism in primary IgA nephropathy: The 32 bp deletion allele is associated with late progression to end-stage renal failure with dialysis
Berthoux FC, et al.
Kidney Int 2006 Jan

Association between functional haplotypes of vascular endothelial growth factor and renal complications in henoch-schlein purpura
Rueda B, et al.
J Rheumatol 2006 Jan;33(1):69-73

 

Diseases of the Skin and Subcutaneous Tissue

CARD15 Single Nucleotide Polymorphisms 8, 12 and 13 Are Not Increased in Ethnic Danes with Sarcoidosis
Milman N, et al.
Respiration 2006 Jan

 

Diseases of the Musculoskeletal System and Connective Tissue

Common polymorphisms of the Growth Hormone (GH) Receptor do not correlate with the growth response to exogenous recombinant human GH in GH deficient children
Pilotta A, et al.
J Clin Endocrinol Metab 2006 Jan

Association of matrilin-3 polymorphisms with spinal disc degeneration and with osteoarthritis of the CMC1 joint of the hand
Min JL, et al.
Ann Rheum Dis 2006 Jan

Thiopurine S-methyltransferase polymorphisms and the relationship between the mutant alleles and the adverse effects in systemic lupus erythematosus patients taking azathioprine
Jun JB, et al.
Clin Exp Rheumatol 2005 Nov-2005 Dec;23(6):873-6

Association of interleukin-10 gene -592 A/C polymorphism with the clinical and pathological diversity of lupus nephritis
Zhu LJ, et al.
Clin Exp Rheumatol 2005 Nov-2005 Dec;23(6):854-60

 

Congenital Anomalies

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation
Lalani SR, et al.
Am J Hum Genet 2006 Feb;78(2):303-14

Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydroflate reductase gene: evaluating gene-environment interactions
Hobbs CA, et al.
Am J Obstet Gynecol 2006 Jan;194(1):218-24

 

Certain Conditions Originating in the Perinatal Period

Fetal folate C677T methylenetetrahydrofolate reductase gene polymorphism and low birth weight
Glanville T, et al.
J Obstet Gynaecol 2006 Jan;26(1):11-4

 

Symptoms, Signs and Ill-defined Conditions

The impact of CYP2C8 polymorphism and grapefruit juice on the pharmacokinetics of repaglinide
Bidstrup TB, et al.
Br J Clin Pharmacol 2006 Jan;61(1):49-57

Hardy-Weinberg disequilibrium identified genotyping error of the serotonin transporter (SLC6A4) promoter polymorphism
Yonan AL, et al.
Psychiatr Genet 2006 Feb;16(1):31-4

           

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics