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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 6, 2006
Volume 17, No. 1

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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

Genetic polymorphism of cytochrome P450 2C19 in Mexican Americans: A cross-ethnic comparative study
Luo HR, et al.
Clin Pharmacol Ther 2006 Jul;80(1):33-40

Direct molecular haplotyping of multiple polymorphisms within exon 4 of the human catechol-O-methyltransferase gene by liquid chromatography-electrospray ionization time-of-flight mass spectrometry
Oberacher H, et al.
Anal Bioanal Chem 2006 Jul

Apolipoprotein E gene polymorphism and allele frequencies in the lebanese population
Mahfouz RA, et al.
Mol Biol Rep 2006 Jun;33(2):145-9

 

Infectious and Parasitic Diseases

Influences of proinflammatory and anti-inflammatory cytokine polymorphisms on eradication rates of clarithromycin-sensitive strains of Helicobacter pylori by triple therapy
Sugimoto M, et al.
Clin Pharmacol Ther 2006 Jul;80(1):41-50

Genetic polymorphisms of interleukin-1-beta in association with sustained response to anti-viral treatment in chronic hepatitis B in Chinese
Chan HL, et al.
Aliment Pharmacol Ther 2006 Jun;23(12):1703-11

           

 

Neoplasms

Exon 19 Deletion Mutations of Epidermal Growth Factor Receptor Are Associated with Prolonged Survival in Non-Small Cell Lung Cancer Patients Treated with Gefitinib or Erlotinib
Jackman DM, et al.
Clin Cancer Res 2006 Jul;12(13):3908-14

The e-cadherin -160 c/a polymorphism and prostate cancer risk in white and black american men
Pookot D, et al.
J Urol 2006 Aug;176(2):793-6

Glu346lys Polymorphism in the Methyl-Cpg Binding Domain 4 Gene and the Risk of Primary Lung Cancer
Shin MC, et al.
Jpn J Clin Oncol 2006 Jun

TP53 and KRAS2 Mutations in Plasma DNA of Healthy Subjects and Subsequent Cancer Occurrence: A Prospective Study
Gormally E, et al.
Cancer Res 2006 Jul;66(13):6871-6

Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease
Gallicchio L, et al.
BMC Cancer 2006 Jun;6(1):173

The role of UGT1A1*28 polymorphism in the pharmacodynamics and pharmacokinetics of irinotecan in patients with metastatic colorectal cancer
Toffoli G, et al.
J Clin Oncol 2006 Jul;24(19):3061-8

CXCL12 polymorphism and malignant cell dissemination/tissue infiltration in acute myeloid leukemia
Dommange F, et al.
FASEB J 2006 Jul

CHEK2 I157T associates with familial and sporadic colorectal cancer
Kilpivaara O, et al.
J Med Genet 2006 Jul;43(7):e34

Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer
Clarizia AD, et al.
Genet Mol Res 2006;5(2):315-22

Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas: A case control study
Skjelbred CF, et al.
BMC Cancer 2006 Jul;6(1):175

The frequencies of NAD(P)H quinone oxidoreductase (NQO1) variant allele in Israeli ethnic groups and the relationship of NQO1*2 to adult acute myeloid leukemia in Israeli patients
Malik E, et al.
Haematologica 2006 Jul;91(7):956-9

Effect of Factor V Leiden and Prothrombin G20210->A Mutations on Thromboembolic Risk in the National Surgical Adjuvant Breast and Bowel Project Breast Cancer Prevention Trial
Abramson N, et al.
J Natl Cancer Inst 2006 Jul;98(13):904-10

Lack of Association Between NOS3 Glu298Asp and Breast Cancer Risk: a Case-ontrol Study
Royo JL, et al.
Breast Cancer Res Treat 2006 Jun

A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene
Lourenco GJ, et al.
Breast Cancer Res Treat 2006 Jun

A Study on the Association of Cytochrome-P450 1A1 Polymorphism and Breast Cancer Risk in North Indian Women
Singh V, et al.
Breast Cancer Res Treat 2006 Jun

Polymorphisms in the KDR and POSTN Genes: Association with Breast Cancer Susceptibility and Prognosis
Forsti A, et al.
Breast Cancer Res Treat 2006 Jun

Prostate cancer susceptibility is mediated by interactions between exposure to ultraviolet radiation and polymorphisms in the 5' haplotype block of the vitamin D receptor gene
Rukin NJ, et al.
Cancer Lett 2006 Jun

Quantitative effect of CYP2D6 genotype and inhibitors on tamoxifen metabolism: Implication for optimization of breast cancer treatment
Borges S, et al.
Clin Pharmacol Ther 2006 Jul;80(1):61-74

MC1R Germline Variants Confer Risk for BRAF-Mutant Melanoma
Landi MT, et al.
Science 2006 Jun

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer
Barnetson RA, et al.
N Engl J Med 2006 Jun;354(26):2751-63

Variant genotypes of CDKN1A and CDKN1B are associated with an increased risk of breast cancer in Chinese women
Ma H, et al.
Int J Cancer 2006 Jun

Association of MUTYH and colorectal cancer
Tenesa A, et al.
Br J Cancer 2006 Jun

 

Endocrine, Nutritional and Metabolic Diseases

Influence of ALA54THR Polymorphism of Fatty Acid Binding Protein 2 on Lifestyle Modification Response in Obese Subjects
de Luis DA, et al.
Ann Nutr Metab 2006 Jun;50(4):354-60

Prediction of genetic risk for metabolic syndrome
Yamada Y, et al.
Atherosclerosis 2006 Jun

Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study
Ortiz J, et al.
BMC Med Genet 2006 Jun;7(1):56

Single Nucleotide Polymorphisms of PPARD in Combination With the Gly482Ser Substitution of PGC-1A and the Pro12Ala Substitution of PPARG2 Predict the Conversion From Impaired Glucose Tolerance to Type 2 Diabetes: The STOP-NIDDM Trial
Andrulionyte L, et al.
Diabetes 2006 Jul;55(7):2148-52

Common Hepatic Nuclear Factor-4{alpha} Variants Are Associated With High Serum Lipid Levels and the Metabolic Syndrome
Weissglas-Volkov D, et al.
Diabetes 2006 Jul;55(7):1970-7

Polymorphisms in the interleukin-6 receptor gene are associated with body mass index and with characteristics of the metabolic syndrome
Esteve E, et al.
Clin Endocrinol (Oxf) 2006 Jul;65(1):88-91

Lack of association of HLA class II alleles with peanut allergy
Shreffler WG, et al.
Ann Allergy Asthma Immunol 2006 Jun;96(6):865-9

 

Diseases of the Blood & Blood-Forming Organ Disorders

VKORC1 and CYP2C9 genotypes and acenocoumarol anticoagulation status: Interaction between both genotypes affects overanticoagulation
Schalekamp T, et al.
Clin Pharmacol Ther 2006 Jul;80(1):13-22

 

Mental Disorders

Cognitive and Magnetic Resonance Imaging Brain Morphometric Correlates of Brain-Derived Neurotrophic Factor Val66Met Gene Polymorphism in Patients With Schizophrenia and Healthy Volunteers
Ho BC, et al.
Arch Gen Psychiatry 2006 Jul;63(7):731-40

           

Glutamate Transporter Gene SLC1A1 Associated With Obsessive-compulsive Disorder
Arnold PD, et al.
Arch Gen Psychiatry 2006 Jul;63(7):769-76

Further Evidence of Association of OPRD1 & HTR1D Polymorphisms with Susceptibility to Anorexia Nervosa
Brown KM, et al.
Biol Psychiatry 2006 Jun

Gene Variants of Brain Dopamine Pathways and Smoking-Induced Dopamine Release in the Ventral Caudate/Nucleus Accumbens
Brody AL, et al.
Arch Gen Psychiatry 2006 Jul;63(7):808-16

Serotonin transporter polymorphism in croatian patients with major depressive disorder
Bozina N, et al.
Psychiatr Danub 2006 Jun;18(1-2):83-9

Tryptophan Hydroxylase-1 Gene Variants Associated with Schizophrenia
Zaboli G, et al.
Biol Psychiatry 2006 Jun

Candidate Gene Polymorphisms in the Serotonergic Pathway: Influence on Depression Symptomatology in an Elderly Population
Christiansen L, et al.
Biol Psychiatry 2006 Jun

Association Between Alpha-2a-adrenergic Receptor Gene and ADHD Inattentive Type
Schmitz M, et al.
Biol Psychiatry 2006 Jun

Nested Association Between Genetic Variation in Tryptophan Hydroxylase II, Bipolar Affective Disorder, and Suicide Attempts
Lopez VA, et al.
Biol Psychiatry 2006 Jun

Association Testing of the Positional and Functional Candidate Gene SLC1A1/EAAC1 in Early-Onset Obsessive-compulsive Disorder
Dickel DE, et al.
Arch Gen Psychiatry 2006 Jul;63(7):778-85

Association analysis of SOD2 variants with methamphetamine psychosis in Japanese and Taiwanese populations
Nakamura K, et al.
Hum Genet 2006 Jun

MAOA and the "Cycle of Violence:" Childhood Abuse and Neglect, MAOA Genotype, and Risk for Violent and Antisocial Behavior
Widom CS & Brzustowicz LM
Biol Psychiatry 2006 Jun

Association of corticotropin-releasing hormone receptor1 gene SNP and haplotype with major depression
Liu Z, et al.
Neurosci Lett 2006 Jun

 

Diseases of the Nervous System and Sense Organs

The TGFbeta1 gene codon 10 polymorphism contributes to the genetic predisposition to high myopia
Lin HJ, et al.
Mol Vis 2006;12:698-703

A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor
Jeanneteau F, et al.
Proc Natl Acad Sci U S A 2006 Jun

Associations between COMTVal(158)Met polymorphism and cognition: direct or indirect effects?
Krabbendam L, et al.
Eur Psychiatry 2006 Jun

Shorter telomeres are associated with mortality in those with APOE epsilon4 and dementia
Honig LS, et al.
Ann Neurol 2006 Jun

Genetic association between endothelial nitric oxide synthase and Alzheimer disease
Akomolafe A, et al.
Clin Genet 2006 Jul;70(1):49-56

Selective loss of synaptic proteins in Alzheimer's disease: Evidence for an increased severity with APOE varepsilon4
Tannenberg RK, et al.
Neurochem Int 2006 Jun

Apolipoprotein e gene polymorphisms are not associated with diabetic retinopathy: the atherosclerosis risk in communities study
Liew G, et al.
Am J Ophthalmol 2006 Jul;142(1):105-11

Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
Carmine Belin A, et al.
Mov Disord 2006 Jun

Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs
Kinirons P, et al.
Epilepsy Res 2006 Jun

Genetic susceptibility to Parkinson's disease among South and North Indians: I. Role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker
Juyal RC, et al.
Neurogenetics 2006 Jul

Association between dopamine D4 receptor (DRD4) gene polymorphisms and novelty-elicited auditory event-related potentials in preschool children
Birkas E, et al.
Brain Res 2006 Jun

CFH Gene Variant, Y402H, and Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration
Seddon JM, et al.
Hum Hered 2006 Jun;61(3):157-65

Polymorphisms in the DNA repair genes XPD (ERCC2) and XPF (ERCC4) are not associated with sporadic late-onset Alzheimer's disease
Dogru-Abbasoglu S, et al.
Neurosci Lett 2006 Jun

 

Diseases of the Circulatory System

The monocyte chemoattractant protein-1 gene polymorphism is associated with cardiomyopathy in human chagas disease
Ramasawmy R, et al.
Clin Infect Dis 2006 Aug;43(3):305-11

Human serum paraoxonase gene polymorphisms, Q192R and L55M, are not associated with the risk of cerebral infarction in Chinese Han population
Huang Q, et al.
Neurol Res 2006 Jul;28(5):549-54

Haplotype of Signal Transducer and Activator of Transcription 3 Gene Predicts Cardiovascular Disease in Dialysis Patients
Zhang L, et al.
J Am Soc Nephrol 2006 Jun

Interleukin-10 promoter polymorphism and venous thrombosis: A case-control study
Cochery-Nouvellon E, et al.
Thromb Haemost 2006 Jul;96(1):24-8

The effect of genetic variants in the thrombin activatable fibrinolysis inhibitor (TAFI) gene on TAFI-antigen levels, clot lysis time and the risk of venous thrombosis
Martini CH, et al.
Br J Haematol 2006 Jul;134(1):92-4

Common variants of the endothelial nitric oxide synthase gene and the risk of coronary heart disease among u.s. Diabetic men
Zhang C, et al.
Diabetes 2006 Jul;55(7):2140-7

beta(1)-Adrenergic receptor polymorphisms influence the response to metoprolol monotherapy in patients with essential hypertension
Liu J, et al.
Clin Pharmacol Ther 2006 Jul;80(1):23-32

Serum C-Reactive Protein Concentration and Genotype in Relation to Ischemic Stroke Subtype
Ladenvall C, et al.
Stroke 2006 Jun

Association between TNF and IL-1 bloc polymorphisms and plasma MCP-1 concentration
Berrahmoune H, et al.
Atherosclerosis 2006 Jun

The association of human connexin 40 genetic polymorphisms with atrial fibrillation
Juang JM, et al.
Int J Cardiol 2006 Jun

 

Diseases of the Respiratory System

Polymorphisms in the novel gene acyloxyacyl hydroxylase (AOAH) are associated with asthma and associated phenotypes
Barnes KC, et al.
J Allergy Clin Immunol 2006 Jul;118(1):70-7

Variant in Promoter Region of Platelet-Derived Growth Factor Receptor-alpha (PDGFRalpha) Gene Is Associated with the Severity and Allergic Status of Childhood Asthma
Wu LS, et al.
Int Arch Allergy Immunol 2006 Jun;141(1):37-46

 

Diseases of the Digestive System

Role of the NFKB1 -94ins/delATTG Promoter Polymorphism in IBD and Potential Interactions with Polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN Genes
Glas J, et al.
Inflamm Bowel Dis 2006 Jul;12(7):606-11

Distribution of FcgammaRIIa and FcgammaRIIIb Genotypes in Patients With Generalized Aggressive Periodontitis
de Souza RC & Colombo AP
J Periodontol 2006 Jul;77(7):1120-8

NOD2/CARD15 gene polymorphisms are not associated with collagenous colitis
Madisch A, et al.
Int J Colorectal Dis 2006 Jun

Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease
Kim JH, et al.
J Pediatr Surg 2006 Jul;41(7):1250-4

Effect of HLA DQ2, dietary exposure and coeliac disease on the development of antibody response to gliadin in children
Ludvigsson JF, et al.
Scand J Gastroenterol 2006 Aug;41(8):919-28

 

Diseases of the Genitourinary System

Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 -455T>C polymorphisms on the susceptibility to diabetic nephropathy
Ng M, et al.
Clin Genet 2006 Jul;70(1):20-8

No association of androgen receptor GGN repeat length polymorphism with infertility in Indian Men
Rajender S, et al.
J Androl 2006 Jun

CYP3A5*3 influences sirolimus oral clearance in de novo and stable renal transplant recipients
Meur YL, et al.
Clin Pharmacol Ther 2006 Jul;80(1):51-60

Single nucleotide polymorphism in exon 17 of the insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population
Lee EJ, et al.
Fertil Steril 2006 Jun

 

Complications of Pregnancy, Childbirth, and the Puerperium

Factor V Leiden mutation and pregnancy-related venous thromboembolism: What is the exact risk? Results from a meta-analysis
Biron-Andreani C, et al.
Thromb Haemost 2006 Jul;96(1):14-8

 

Diseases of the Skin and Subcutaneous Tissue

Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients
Huffmeier U, et al.
J Med Genet 2006 Jun;43(6):517-22

 

Diseases of the Musculoskeletal System and Connective Tissue

Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women
Stewart TL, et al.
J Clin Endocrinol Metab 2006 Jun

NOS2 polymorphisms associated with the susceptibility to pulmonary arterial hypertension with systemic sclerosis: contribution to the transcriptional activity
Kawaguchi Y, et al.
Arthritis Res Ther 2006 Jul;8(4):R104

Contribution of KIR3DL1/3DS1 to ankylosing spondylitis in human leukocyte antigen-B27 Caucasian populations
Lopez-Larrea C, et al.
Arthritis Res Ther 2006 Jun;8(4):R101

 

Symptoms, Signs and Ill-defined Conditions

MUC4 gene polymorphism and expression in women with implantation failure
Koscinski I, et al.
Hum Reprod 2006 Jun

The association of monoamine oxidase B functional polymorphism with postoperative pain intensity
Sery O, et al.
Neuro Endocrinol Lett 2006 Jun;27(3)

 

 

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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