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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 6, 2006
Volume 16, No. 14

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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

Gene frequencies of human platelet antigens in the Macedonian population
Pavkovic M, et al.
Tissue Antigens 2006 Mar;67(3):241-6

Identification and characterization of CYP3A4*20, a novel rare CYP3A4 allele without functional activity
Westlind-Johnsson A, et al.
Clin Pharmacol Ther 2006 Apr;79(4):339-49

 

Infectious and Parasitic Diseases

Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism
Yasuda H, et al.
J Med Genet 2006 Apr;43(4):e17

A Common Polymorphism in the Interleukin 8 Gene Promoter Is Associated with Clostridium difficile Diarrhea
Jiang ZD, et al.
Am J Gastroenterol 2006 Mar

 

Neoplasms

Genetic polymorphism of gluthation-S transferases and N-acetyl transferases 2 and nasopharyngeal carcinoma: the Tunisia experience
Bendjemana K, et al.
Bull Cancer 2006 Mar;93(3):297-302

The XPD 751Gln allele is associated with an increased risk for esophageal adenocarcinoma. A population-based case-control study in Sweden
Ye W, et al.
Carcinogenesis 2006 Mar

Mutations of the epidermal growth factor receptor tyrosine kinase domain and associations with clinicopathological features in non-small cell lung cancer patients
Murray S, et al.
Lung Cancer 2006 Mar

A case-control study investigating the role of sulfotransferase 1A1 polymorphism in head and neck cancer
Boccia S, et al.
J Cancer Res Clin Oncol 2006 Mar

Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene
Masojc B, et al.
Breast Cancer Res Treat 2006 Mar

Relationship between ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia
Sellick GS, et al.
Leuk Res 2006 Mar

Single nucleotide polymorphisms of follicle stimulating hormone receptor are associated with ovarian cancer susceptibility
Yang CQ, et al.
Carcinogenesis 2006 Mar

Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukaemia
Rudd MF, et al.
Blood 2006 Mar

Surfactant protein B gene variations and susceptibility to lung cancer in chromate workers
Ewis AA, et al.
Am J Ind Med 2006 Mar

Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study
Concetta Fargnoli M, et al.
Melanoma Res 2006 Apr;16(2):175-82

Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving Fluorouracil-based adjuvant treatment
Dotor E, et al.
J Clin Oncol 2006 Apr;24(10):1603-11

Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk
Nock NL, et al.
Carcinogenesis 2006 Mar

Mitochondrial DNA mutations and mitochondrial DNA depletion in breast cancer
Tseng LM, et al.
Genes Chromosomes Cancer 2006 Mar

HLA-DRB1, -DQB1 alleles in head and neck carcinoma patients
Koskinen WJ, et al.
Tissue Antigens 2006 Mar;67(3):237-40

 

Endocrine, Nutritional and Metabolic Diseases

Lack of a genetic association between the ctla-4 gene and graves' disease in koreans
Cho HJ, et al.
Thyroid 2006 Mar;16(3):237-41

Single nucleotide polymorphisms in the proximal promoter region of apolipoprotein M gene (apoM) confer the susceptibility to development of type 2 diabetes in Han Chinese
Niu N, et al.
Diabetes Metab Res Rev 2006 Mar

Allelic Variants of the GABA-A Receptor {alpha}-1 Subunit Gene (GABRA1) are not Associated with Idiopathic Gonadotropin-Dependent Precocious Puberty in Girls with and without Electroencephalographic Abnormalities
Brito VN, et al.
J Clin Endocrinol Metab 2006 Mar

Influence of the SLCO1B1*1b and *5 haplotypes on pravastatin's cholesterol lowering capabilities and basal sterol serum levels
Gerloff T, et al.
Naunyn Schmiedebergs Arch Pharmacol 2006 Mar

Lack of association of interleukin-18 gene polymorphisms with susceptibility of Japanese populations to graves' disease or graves' ophthalmopathy
Mukai T, et al.
Thyroid 2006 Mar;16(3):243-8

A Polymorphism in the AMPK{alpha}2 Subunit Gene Is Associated With Insulin Resistance and Type 2 Diabetes in the Japanese Population
Horikoshi M, et al.
Diabetes 2006 Apr;55(4):919-23

The PPARG Pro12Ala Polymorphism Is Associated With a Decreased Risk of Developing Hyperglycemia Over 6 Years and Combines With the Effect of the APM1 G-11391A Single Nucleotide Polymorphism: The Data From an Epidemiological Study on the Insulin Resistance Syndrome (DESIR) Study
Jaziri R, et al.
Diabetes 2006 Apr;55(4):1157-62

Uncoupling Protein 2 Promoter Polymorphism -866G/A Affects Peripheral Nerve Dysfunction in Japanese Type 2 Diabetic Patients
Yamasaki H, et al.
Diabetes Care 2006 Apr;29(4):888-94

Polymorphisms in the NPY and AGRP genes and body fatness in Dutch adults
van Rossum CT, et al.
Int J Obes (Lond) 2006 Mar

 

Diseases of the Blood and Blood-Forming Organs Disorders

Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements
Aquilante CL, et al.
Clin Pharmacol Ther 2006 Apr;79(4):291-302

 

Mental Disorders

A family-based study of Indian subjects from Kolkata reveals allelic association of the serotonin transporter intron-2 (STin2) polymorphism and attention-deficit-hyperactivity disorder (ADHD)
Banerjee E, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Mar

Preliminary evidence for an association between a dopamine D3 receptor gene variant and obsessive-compulsive personality disorder in patients with major depression
Light KJ, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Mar

Polymorphisms of the glucocorticoid receptor gene and major depression
van Rossum EF, et al.
Biol Psychiatry 2006 Apr;59(8):681-8

Cumulative Effect of COMT and 5-HTTLPR Polymorphisms and Their Interaction With Disease Severity and Comorbidities on the Risk of Psychosis in Alzheimer Disease
Borroni B, et al.
Am J Geriatr Psychiatry 2006 Apr;14(4):343-51

An association between the DAT1 polymorphism and smoking behavior in young adults from the national longitudinal study of adolescent health
Timberlake DS, et al.
Health Psychol 2006 Mar;25(2):190-7

Serotonin transporter polymorphisms and clinical response to sertraline across ethnicities
Ng CH, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Mar

Factor analysis of obsessive-compulsive disorder YBOCS-SC symptoms and association with 5-HTTLPR SERT polymorphism
Hasler G, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Mar

Association of AKT1 haplotype with the risk of schizophrenia in Iranian population
Bajestan SN, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Mar

Association between the DRD2 A(1) allele and response to methadone and buprenorphine maintenance treatments
Barratt DT, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Mar

No Human Tryptophan Hydroxylase-2 Gene R441H Mutation in a Large Cohort of Psychiatric Patients and Control Subjects
Delorme R, et al.
Biol Psychiatry 2006 Mar

Meta-analysis of association between ApoE epsilon4 allele and schizophrenia
Xu MQ, et al.
Schizophr Res 2006 Mar

Brain-derived neurotrophic factor gene (BDNF) variants and schizophrenia: An association study
Jonsson EG, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Mar

A complex polymorphic region in the brain-derived neurotrophic factor (BDNF) gene confers susceptibility to bipolar disorder and affects transcriptional activity
Okada T, et al.
Mol Psychiatry 2006 Mar

G72/G30 in Schizophrenia and Bipolar Disorder: Review and Meta-analysis
Detera-Wadleigh SD & McMahon FJ
Biol Psychiatry 2006 Mar

 

Diseases of the Nervous System and Sense Organs

N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease
Borlak J & Reamon-Buettner S
BMC Med Genet 2006 Mar;7(1):30

Lack of association between inherited thrombophilic risk factors and idiopathic sudden sensorineural hearing loss in Italian patients
Cadoni G, et al.
Ann Otol Rhinol Laryngol 2006 Mar;115(3):195-200

Cognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171
Coimbra ER, et al.
Epilepsy Behav 2006 Mar

Polymorphisms in the phosphate and tensin homolog gene are not associated with late-onset Alzheimer's disease
Hamilton G, et al.
Neurosci Lett 2006 Mar

Case-control study of vascular endothelial growth factor (VEGF) genetic variability in Alzheimer's disease
Mateo I, et al.
Neurosci Lett 2006 Mar

Haplotype analysis of single nucleotide polymorphisms in VEGF gene for vascular dementia
Kim Y, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Mar

Endothelial nitric oxide synthase genotype and haplotype are not associated with diabetic retinopathy in diabetes type 2 patients
de Syllos RW, et al.
Nitric Oxide 2006 Mar

Polymorphisms within the tumor necrosis factor-alpha promoter region in patients with HLA-B27-associated uveitis: association with susceptibility and clinical manifestations
El-Shabrawi Y, et al.
Ophthalmology 2006 Apr;113(4):695-700

 

Diseases of the Circulatory System

Polymorphism in Endothelin-Related Genes Limits Exercise-Induced Decreases in Arterial Stiffness in Older Subjects
Iemitsu M, et al.
Hypertension 2006 Mar

Association of the Ghrelin Receptor Gene Region With Left Ventricular Hypertrophy in the General Population. Results of the MONICA/KORA Augsburg Echocardiographic Substudy
Baessler A, et al.
Hypertension 2006 Mar

MMP-9 Microsatellite Polymorphism and Susceptibility to Carotid Arteries Atherosclerosis
Fiotti N, et al.
Arterioscler Thromb Vasc Biol 2006 Mar

Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke
Komitopoulou A, et al.
Cerebrovasc Dis 2006 Mar;22(1):13-20

Association Analysis of Common Variants of ELN, NOS2A, APOE and ACE2 to Intracranial Aneurysm
Mineharu Y, et al.
Stroke 2006 Mar

Frequency of Thrombophilia-Related Genetic Variations in Patients with Idiopathic Pulmonary Embolism in an Urban Emergency Department
Kruse L, et al.
Clin Chem 2006 Mar

Effects of lifestyle modification on the progression of coronary atherosclerosis, autonomic function, and angina--the role of GNB3 C825T polymorphism
Michalsen A, et al.
Am Heart J 2006 Apr;151(4):870-7

The TNF-alpha G-308A polymorphism is associated with C-reactive protein levels: The HERITAGE Family Study
Lakka HM, et al.
Vascul Pharmacol 2006 Mar

Genetic variability at the leptin receptor (LEPR) locus is a determinant of plasma fibrinogen and C-reactive protein levels
Zhang YY, et al.
Atherosclerosis 2006 Mar

Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke
Horan M, et al.
Hum Genet 2006 Mar

Epistatic effects between two genes in the renin-angiotensin system and systolic blood pressure and coronary artery calcification
Kardia SL, et al.
Med Sci Monit 2006 Mar;12(4):CR150-8

HindIII(+/-) Polymorphism of the Y Chromosome, Blood Pressure, and Serum Lipids: No Evidence of Association in Three White Populations
Russo P, et al.
Am J Hypertens 2006 Apr;19(4):331-8

Klotho gene polymorphism may be a genetic risk factor for atherosclerotic coronary artery disease but not for vasospastic angina in Japanese
Imamura A, et al.
Clin Chim Acta 2006 Mar

Genetic variation in the hepatic lipase gene and the risk of coronary heart disease among US diabetic men: potential interaction with obesity
Zhang C, et al.
Diabetologia 2006 Mar

Common adrenergic receptor polymorphisms as novel risk factors for vasospastic angina
Park JS, et al.
Am Heart J 2006 Apr;151(4):864-9

ET-1 Lys198Asn and ET(A) Receptor H323H Polymorphisms in Heart Failure. A Case-Control Study
Colombo MG, et al.
Cardiology 2006 Mar;105(4):246-52

 

Diseases of the Respiratory System

Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis
Vasakova M, et al.
Tissue Antigens 2006 Mar;67(3):229-32

 

Diseases of the Digestive System

Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A
Sumnik Z, et al.
Diabetes Care 2006 Apr;29(4):858-63

TNFalpha and IL-10 Gene Polymorphisms in Inflammatory Bowel Disease. Association of -1082 AA Low Producer IL-10 Genotype with Steroid Dependency
Castro-Santos P, et al.
Am J Gastroenterol 2006 Mar

Interleukin-10 haplotypes in Celiac Disease in the Spanish population
Nunez C, et al.
BMC Med Genet 2006 Mar;7(1):32

The Effects of Genetic Polymorphisms of IL-1 and TNF-A on Helicobacter pylori-Induced Gastroduodenal Diseases in Korea
Kim N, et al.
Helicobacter 2006 Apr;11(2):105-12

 

Diseases of the Genitourinary System

Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens
Bertuzzo CS & Pinto W
Hum Fertil (Camb) 2006 Mar;9(1):53-6

A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population
Thangaraj K, et al.
Int J Androl 2006 Mar

Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome
Oleggini R, et al.
Gene Expr 2006;13(1):59-66

Polymorphisms of the Protein Kinase C-{beta} Gene (PRKCB1) Accelerate Kidney Disease in Type 2 Diabetes Without Overt Proteinuria
Araki S, et al.
Diabetes Care 2006 Apr;29(4):864-8

 

Complications of Pregnancy, Childbirth, and the Puerperium

Role of p53 codon 72 polymorphism in recurrent pregnancy loss
Coulam CB, et al.
Reprod Biomed Online 2006 Mar;12(3):378-82

Multiple thrombophilic gene mutations are risk factors for implantation failure
Coulam CB, et al.
Reprod Biomed Online 2006 Mar;12(3):322-7

Association of pre-eclampsia with the R563Q mutation of the beta-subunit of the epithelial sodium channel
Dhanjal M, et al.
BJOG 2006 Mar

 

Diseases of the Musculoskeletal System and Connective Tissue

COL1A1 Sp1 polymorphism associates with bone density in early puberty
Suuriniemi M, et al.
Bone 2006 Mar

Lack of genetic association of the Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile polymorphisms with spondylarthropathies in a Hungarian population
Gergely Jr P, et al.
Rheumatology (Oxford) 2006 Mar

Angiotensin-converting enzyme insertion/deletion polymorphism and systemic lupus erythematosus: a metaanalysis
Lee YH, et al.
J Rheumatol 2006 Apr;33(4):698-702

Efficacy and toxicity of methotrexate in early rheumatoid arthritis are associated with single-nucleotide polymorphisms in genes coding for folate pathway enzymes
Wessels JA, et al.
Arthritis Rheum 2006 Mar;54(4):1087-95

Association of tumor necrosis factor alpha polymorphism, but not the shared epitope, with increased radiographic progression in a seropositive rheumatoid arthritis inception cohort
Khanna D, et al.
Arthritis Rheum 2006 Mar;54(4):1105-16

The HLA-DRB1 shared epitope alleles are primarily a risk factor for anti-cyclic citrullinated peptide antibodies and are not an independent risk factor for development of rheumatoid arthritis
van der Helm-van Mil AH, et al.
Arthritis Rheum 2006 Mar;54(4):1117-21

Genetic susceptibility to hip arthroplasty failure-association with the RANK/OPG pathway
Malik MH, et al.
Int Orthop 2006 Apr

Relationship Between Interleukin 6 Promoter Polymorphism at Position -174, IL-6 Serum Levels, and the Risk of Relapse/Recurrence in Polymyalgia Rheumatica
Boiardi L, et al.
J Rheumatol 2006 Apr;33(4):703-8

Genetic variation in toll-like receptor 9 and susceptibility to systemic lupus erythematosus
De Jager PL, et al.
Arthritis Rheum 2006 Mar;54(4):1279-82

HFE Gene Mutations Are Associated with Osteoarthritis in the Index or Middle Finger Metacarpophalangeal Joints
Carroll GJ
J Rheumatol 2006 Apr;33(4):741-3

 

Congenital Anomalies

Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
Martinez-Frias ML, et al.
Am J Med Genet A 2006 Mar

Single-nucleotide polymorphisms of VEGF gene are associated with risk of congenital valvuloseptal heart defects
Vannay A, et al.
Am Heart J 2006 Apr;151(4):878-81

 

Symptoms, Signs and Ill-defined Conditions

A polymorphism of the methionine synthase reductase gene increases chromosomal damage in peripheral lymphocytes in smokers
Ishikawa H, et al.
Mutat Res 2006 Mar

Impact of TGFbeta1 Gene Polymorphisms on Acute and Chronic Rejection in Pediatric Heart Transplant Allografts
Di Filippo S, et al.
Transplantation 2006 Mar;81(6):934-9

A longitudinal study of the effect of GSTT1 and GSTM1 gene copy number on survival
Christiansen L, et al.
Mech Ageing Dev 2006 Mar

beta2-Adrenoceptor Genotype Affects Vasopressor Requirements during Spinal Anesthesia for Cesarean Delivery
Smiley RM, et al.
Anesthesiology 2006 Apr;104(4):644-50

Environmental and genetic factors associated with morphine response in the postoperative period
Coulbault L, et al.
Clin Pharmacol Ther 2006 Apr;79(4):316-24

Genetic polymorphisms of the platelet receptors P2Y(12), P2Y(1) and GP IIIa and response to aspirin and clopidogrel
Lev EI, et al.
Thromb Res 2006 Mar

 

Injury and Poisoning

Genetic polymorphisms in CYP1A1 and GSTM1 predispose humans to PCBs/PCDFs-induced skin lesions
Tsai PC, et al.
Chemosphere 2006 Mar

 

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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