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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
June 26, 2008
Volume 20, No. 26

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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.


Infectious and Parasitic Diseases

Apolipoprotein (apo) E4 enhances HIV-1 cell entry in vitro, and the APOE {varepsilon}4/{varepsilon}4 genotype accelerates HIV disease progression
Burt TD, et al.
Proc Natl Acad Sci U S A 2008 Jun

Cytokine polymorphisms predict the frequency of otitis media as a complication of rhinovirus and RSV infections in children
Alper CM, et al.
Eur Arch Otorhinolaryngol 2008 Jun

A single nucleotide polymorphism in the Mdm2 promoter and risk of sepsis
Kleiman DA, et al.
Am J Surg 2008 Jun

Plasminogen alleles influence susceptibility to invasive aspergillosis
Zaas AK, et al.
PLoS Genet 2008 Jun;4(6):e1000101

Neoplasms

Androgen receptor gene CAG repeats, estrogen exposure status, and breast cancer susceptibility
Wu MH, et al.
Eur J Cancer Prev 2008 Aug;17(4):317-22

Impact of MDM2 single nucleotide polymorphism on tumor onset in head and neck squamous cell carcinoma
Nakashima M, et al.
Acta Otolaryngol 2008 Jul;128(7):808-13

Anti- and proinflammatory cytokine gene polymorphism and genetic predisposition:  association with smoking, tumor stage and grade, and bacillus Calmette-Guerin immunotherapy in bladder cancer
Ahirwar D, et al.
Cancer Genet Cytogenet 2008 Jul;184(1):1-8

Joint effects of inflammation and androgen metabolism on prostate cancer severity
Rebbeck TR, et al.
Int J Cancer 2008 Jun

Functional polymorphisms of the microsomal epoxide hydrolase gene: A reappraisal  on a early-onset lung cancer patients series
Graziano C, et al.
Lung Cancer 2008 Jun

L-myc gene polymorphism and risk of thyroid cancer
Yaylim-Eraltan I, et al.
Exp Oncol 2008 Jun;30(2):117-20

Association of Prostate Cancer and Manganese Superoxide Dismutase AA Genotype Influenced by Presence of Occult Cancer in Control Group
Iguchi T, et al.
Urology 2008 Jun

Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute  to susceptibility to cutaneous melanoma
Li C, et al.
Hum Mutat 2008 Jun

Inflammatory cytokine gene polymorphisms in gastric cancer cases' and controls' family members from Chinese areas at high cancer prevalence
Feng Y, et al.
Cancer Lett 2008 Jun

Detection and relevance of germline genetic polymorphisms in glutathione S-transferases (GSTs) in breast cancer patients from northern Indian population
Saxena A, et al.
Breast Cancer Res Treat 2008 Jun

Glutathione peroxidase 1 (GPX1) genetic polymorphism, erythrocyte GPX activity, and prostate cancer risk
Arsova-Sarafinovska Z, et al.
Int Urol Nephrol 2008 Jun

Genetic susceptibility of epidermal growth factor +61A>G and transforming growth  factor beta1 -509C>T gene polymorphisms with gallbladder cancer
Vishnoi M, et al.
Hum Immunol 2008 Jun;69(6):360-7

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer
Tischkowitz MD, et al.
Cancer Lett 2008 Jun

SLC45A2: a novel malignant melanoma-associated gene
Fernandez LP, et al.
Hum Mutat 2008 Jun

The RR genotype of codon 72 of p53 gene reduces the development of intestinal metaplasia
Szoke D, et al.
Dig Liver Dis 2008 Jun

Risk of cancer by ATM missense mutations in the general population
Dombernowsky SL, et al.
J Clin Oncol 2008 Jun;26(18):3057-62

Renal cell carcinoma, occupational pesticide exposure, and modification by glutathione S-transferase polymorphisms
Karami S, et al.
Carcinogenesis 2008 Jun

Detecting pathway-based gene-gene and gene-environment interactions in pancreatic cancer
Duell EJ, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jun;17(6):1470-9

The impact of genetic variation in DRD2 and SLC6A3 on smoking cessation in a cohort of participants 1 year after enrollment in a lung cancer screening study
Styn MA, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jun

Strong association of chromosome 1p12 Loci with thyroid cancer susceptibility
Baida A, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jun;17(6):1499-504

BRCA1 and BRCA2 Mutation Prevalence and Clinical Characteristics of a Population-Based Series of Ovarian Cancer Cases from Denmark
Soegaard M, et al.
Clin Cancer Res 2008 Jun;14(12):3761-7

MDM2 Promoter Polymorphism and Pancreatic Cancer Risk and Prognosis
Asomaning K, et al.
Clin Cancer Res 2008 Jun;14(12):4010-5

Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests
Chang JS, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jun;17(6):1368-73

Wilms Tumor 1 Gene Mutations Independently Predict Poor Outcome in Adults With Cytogenetically Normal Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study
Paschka P, et al.
J Clin Oncol 2008 Jun

Structural profiles of TP53 gene mutations predict clinical outcome in diffuse large B-cell lymphoma: an international collaborative study
Young KH, et al.
Blood 2008 Jun

The gc2 allele of the vitamin d binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin d status
Abbas S, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jun;17(6):1339-43

Effect of Interleukin-10 Gene Polymorphisms on Clinical Outcome of Patients with  Aggressive Non-Hodgkin's Lymphoma: An Exploratory Study
Kube D, et al.
Clin Cancer Res 2008 Jun;14(12):3777-84

Genetic variation in insulin-like growth factors and brain tumor risk
Lonn S, et al.
Neuro Oncol 2008 Jun

Better Life Expectancy in Women with BRCA2 Compared with BRCA1 Mutations Is Attributable to Lower Frequency and Later Onset of Ovarian Cancer
Byrd LM, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jun;17(6):1535-42

A meta-analysis of DNA repair gene XPC polymorphisms and cancer risk
Zhang D, et al.
J Hum Genet 2008;53(1):18-33

Endocrine, Nutritional and Metabolic Diseases

Characterization of the humoral immune response to islet antigen 2 in children with newly diagnosed type 1 diabetes
Makinen A, et al.
Eur J Endocrinol 2008 Jul;159(1):19-26

Prevalence, characteristics and prognostic significance of HFE gene mutations in  type 2 diabetes: The Fremantle Diabetes Study
Davis TM, et al.
Diabetes Care 2008 Jun

Cathepsin S genotypes are associated with Apo-A1 and HDL-cholesterol in lean and  obese French populations
Spielmann N, et al.
Clin Genet 2008 Jun

T-cell reactivity to insulin peptide A1-12 in children with recently diagnosed type 1 diabetes or multiple beta-cell autoantibodies
Marttila J, et al.
J Autoimmun 2008 Jun

Association testing of novel type 2 diabetes risk-alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged
Grarup N, et al.
Diabetes 2008 Jun

The single nucleotide polymorphism upstream of insulin-induced gene 2 ( INSIG2) is associated with the prevalence of hypercholesterolaemia, but not with obesity, in Japanese American women
Oki K, et al.
Br J Nutr 2008 Jun:1-6

Study of the association between the CAPSL-IL7R locus and type 1 diabetes
Santiago JL, et al.
Diabetologia 2008 Jun

Genetic variation in the renin-angiotensin system modifies the beneficial effects of ACE inhibitors on the risk of diabetes mellitus among hypertensives
Bozkurt O, et al.
J Hum Hypertens 2008 Jun

ADA genetic polymorphism and the effect of smoking on neonatal bilirubinemia and  developmental parameters
Gloria-Bottini F, et al.
Early Hum Dev 2008 Jun

FTO gene associates to metabolic syndrome in women with polycystic ovary syndrome
Attaoua R, et al.
Biochem Biophys Res Commun 2008 Jun

The interleukin-6 -572C-->G promoter polymorphism is associated with Type 2 diabetes risk in Koreans
Koh SJ, et al.
Clin Endocrinol (Oxf) 2008 Jun

The ADRB3 Trp64Arg variant and BMI: a meta-analysis of 44 833 individuals
Kurokawa N, et al.
Int J Obes (Lond) 2008 Jun

A potential role of TNFR gene polymorphisms in autoimmune thyroid diseases in the Tunisian population
Kammoun-Krichen M, et al.
Cytokine 2008 Jun

Genetic variations in the leptin and leptin receptor genes are associated with type 2 diabetes mellitus and metabolic traits in the Korean female population
Han H, et al.
Clin Genet 2008 Jun

Diseases of the Blood & Blood-Forming Organ Disorders

Role of pharmacodiagnostic of CYP2C9 variants in the optimization of warfarin therapy in Malaysia: A 6-month follow-up study
Ngow H, et al.
Xenobiotica 2008 Jun;38(6):641-51

The largest prospective warfarin-treated cohort supports genetic forecasting
Wadelius M, et al.
Blood 2008 Jun

Association of human leukocyte antigen-DRB1 alleles with disease susceptibility and severity of aplastic anemia in Korean patients
Song EY, et al.
Hum Immunol 2008 Jun;69(6):354-9

Mental Disorders

DTNBP1 haplotype influences baseline assessment scores of schizophrenic in-patients
Pae CU, et al.
Neurosci Lett 2008 Aug;440(2):150-4

Molecular genetic contribution to the developmental course of attention-deficit hyperactivity disorder
Langley K, et al.
Eur Child Adolesc Psychiatry 2008 Jun

Association between cognitive functioning, exposure to Herpes Simplex Virus type  1, and the COMT Val158Met genetic polymorphism in adults without a psychiatric disorder
Dickerson F, et al.
Brain Behav Immun 2008 Jun

RASD2, MYH9, and CACNG2 Genes at Chromosome 22q12 Associated with the Subgroup of Schizophrenia with Non-Deficit in Sustained Attention and Executive Function
Liu YL, et al.
Biol Psychiatry 2008 Jun

Differential association of the COMT Val158Met polymorphism with clinical phenotypes in schizophrenia and bipolar disorder
Goghari VM & Sponheim SR
Schizophr Res 2008 Jun

Pharmacogenetics of methylphenidate response in attention deficit/hyperactivity disorder: Association with the dopamine transporter gene (SLC6A3)
Purper-Ouakil D, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jun

Acute antipyschotic efficacy and side effects in schizophrenia: Association with  serotonin transporter promoter genotypes
Dolzan V, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2008 Jun

Association study of interleukin 2 (IL2) and IL4 with schizophrenia in a Japanese population
Watanabe Y, et al.
Eur Arch Psychiatry Clin Neurosci 2008 Jun

The TGM2 gene is associated with schizophrenia in a British population
Bradford M, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jun

Association of a Monoamine Oxidase-A Gene Promoter Polymorphism With ADHD and Anxiety in Boys With Autism Spectrum Disorder
Roohi J, et al.
J Autism Dev Disord 2008 Jun

Genetic variation in the serotonin pathway and smoking cessation with nicotine replacement therapy: New data from the Patch in Practice trial and pooled analyses
David SP, et al.
Drug Alcohol Depend 2008 Jun

BanI polymorphism of cytosolic phospholipase A2 gene is associated with age at onset in male patients with schizophrenia and schizoaffective disorder
Nadalin S, et al.
Prostaglandins Leukot Essent Fatty Acids 2008 Jun

Diseases of the Nervous System and Sense Organs

No association of SORL1 SNPs with Alzheimer's disease
Minster RL, et al.
Neurosci Lett 2008 Aug;440(2):190-2

Incidence of the 35delG/GJB2 mutation in low-risk newborns
Zaputovic S, et al.
J Matern Fetal Neonatal Med 2008 Jul;21(7):463-8

Audiological and genetic features of the mtDNA mutations
Liu XZ, et al.
Acta Otolaryngol 2008 Jul;128(7):732-8

Analysis of 45 candidate genes for disease modifying activity in multiple sclerosis
Ramagopalan SV, et al.
J Neurol 2008 Jun

Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease
Hall DA, et al.
Parkinsonism Relat Disord 2008 Jun

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease
Brouwers N, et al.
Neurology 2008 Jun

The role of dopamine D3, 5-HT2A and 5-HT2C receptor variants as pharmacogenetic determinants in tardive dyskinesia in African-Caribbean patients under chronic antipsychotic treatment
Wilffert B, et al.
J Psychopharmacol 2008 Jun

Interaction between methylenetetrahydrofolate reductase C677T gene polymorphism  and sleep duration on risk of stroke pathogenesis
Zhang Y, et al.
Beijing Da Xue Xue Bao 2008 Jun;40(3):262-9

Risk factors for dementia of Alzheimer type and aging-associated cognitive decline in a spanish population based sample, and in brains with pathology confirmed Alzheimer's disease
Ampuero I, et al.
J Alzheimers Dis 2008 Jun;14(2):179-91

Evaluation of Choline Acetyltransferase Gene Polymorphism (2384 G/A) in Alzheimer's Disease and Mild Cognitive Impairment
Tang M, et al.
Dement Geriatr Cogn Disord 2008 Jun;26(1):9-14

Family-based association study between NOS-I and -IIA polymorphisms and autism spectrum disorders in Korean trios
Kim HW, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jun

Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease
Mizuta I, et al.
Hum Genet 2008 Jun

Lack of genetic association between PPARG gene polymorphisms and Finnish late-onset Alzheimer's disease
Helisalmi S, et al.
Neurosci Lett 2008 Jun

Diseases of the Circulatory System

Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk
Thompson A, et al.
JAMA 2008 Jun;299(23):2777-88

The V433M Variant of the CYP4F2 Is Associated With Ischemic Stroke in Male Swedes Beyond Its Effect on Blood Pressure
Fava C, et al.
Hypertension 2008 Jun

Genetic Factors for Ischemic and Hemorrhagic Stroke in Japanese Individuals
Yamada Y, et al.
Stroke 2008 Jun

Methylenetetrahydrofolate reductase (MTHFR) C677T genetic polymorphism and late infarct-related coronary artery patency after thrombolysis
Patti G, et al.
J Thromb Thrombolysis 2008 Jun

Single-Nucleotide Polymorphisms of MMP-2 Gene in Stroke Subtypes
Fatar M, et al.
Cerebrovasc Dis 2008 Jun;26(2):113-9

Warfarin dose and INR related to genotypes of CYP2C9 and VKORC1 in patients with  myocardial infarction
Haug KB, et al.
Thromb J 2008 Jun;6(1):7

Diseases of the Respiratory System

beta(2)-Adrenoceptor Polymorphisms Predict Response to beta(2)-Agonists in Children with Acute Asthma
Martin AC, et al.
J Asthma 2008 Jun;45(5):383-8

Modulation of cystic fibrosis lung disease by variants in interleukin-8
Hillian AD, et al.
Genes Immun 2008 Jun

Association study of the C3 gene with adult and childhood asthma
Inoue H, et al.
J Hum Genet 2008 Jun

Effects of In Utero and Childhood Tobacco Smoke Exposure and {beta}2-Adrenergic Receptor Genotype on Childhood Asthma and Wheezing
Wang C, et al.
Pediatrics 2008 Jun

Diseases of the Digestive System

Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesis
Russell RK, et al.
Genes Immun 2008 Jun

Influence of G308A Polymorphism of Tumor Necrosis Factor Alpha Gene on Surgical Results of Biliopancreatic Diversion
de Luis DA, et al.
Obes Surg 2008 Jun

Genetic polymorphisms of adiponectin and tumor necrosis factor-alpha and nonalcoholic fatty liver disease in Chinese people
Wong VW, et al.
J Gastroenterol Hepatol 2008 Jun;23(6):914-21

Diseases of the Genitourinary System

Evaluation of a SNP map of 6q24-27 confirms diabetic nephropathy loci and identifies novel associations in type 2 diabetes patients with nephropathy from an African-American population
Leak TS, et al.
Hum Genet 2008 Jun

High-density SNP genome wide linkage scan for susceptibility genes for diabetic nephropathy in type 1 diabetes: Discordant sib-pair approach
Rogus JJ, et al.
Diabetes 2008 Jun

Complications of Pregnancy, Childbirth, and the Puerperium

Genetic Predisposition to Idiopathic Recurrent Spontaneous Abortion: Contribution of Genetic Variations in IGF-2 and H19 Imprinted Genes
Ostojic S, et al.
Am J Reprod Immunol 2008 Jun

Relationship between methylenetetrahydrofolate reductase polymorphism and homocysteine levels in women with recurrent pregnancy loss: a nutrigenetic perspective
Cardona H, et al.
Nutr Hosp 2008 Jun;23(3):277-82

Preeclampsia Risk and Angiotensinogen Polymorphisms M235T and AGT -217 in African American and Caucasian Women
Jenkins LD, et al.
Reprod Sci 2008 Jun

Diseases of the Skin and Subcutaneous Tissue

Association of HLA-DQA1 and DQB1 alleles with keloids in Chinese Hans
Lu WS, et al.
J Dermatol Sci 2008 Jun

Diseases of the Musculoskeletal System and Connective Tissue

Impaired body movement representation in DYT1 mutation carriers
Fiorio M, et al.
Clin Neurophysiol 2008 Jun

Matrix metalloproteinase-9 promoter polymorphisms in Korean patients with systemic lupus erythematosus
Lee YJ, et al.
Hum Immunol 2008 Jun;69(6):374-9

The vitamin D receptor Fok1 polymorphism and bone mineral density in Chinese children
Zhang C, et al.
Clin Chim Acta 2008 Jun

CRHR1 polymorphisms predict bone density in survivors of acute lymphoblastic leukemia
Jones TS, et al.
J Clin Oncol 2008 Jun;26(18):3031-7

Mannose-binding lectin polymorphisms are not associated with rheumatoid arthritis--confirmation in two large cohorts
van de Geijn FE, et al.
Rheumatology (Oxford) 2008 Jun

Certain Conditions Originating in the Perinatal Period

Interleukin-6 polymorphism is associated with chorioamnionitis and neonatal infections in preterm infants
Reiman M, et al.
J Pediatr 2008 Jul;153(1):19-24

TNF-alpha promoter polymorphisms in sudden infant death
Ferrante L, et al.
Hum Immunol 2008 Jun;69(6):368-73

Symptoms, Signs and Ill-defined Conditions

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians
Yang TL, et al.
Eur J Hum Genet 2008 Jun

Injury and Poisoning

Genetic variation in glutathione-related genes and body burden of methylmercury
Schlawicke Engstrom K, et al.
Environ Health Perspect 2008 Jun;116(6):734-9

 

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Page last reviewed: June 26, 2008 (archived document)
Content Source: National Office of Public Health Genomics