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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
September 28, 2006
Volume 17, No. 13

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Many of the news links published in our Weekly Update are temporary, and we cannot guarantee access to stories longer than one or two weeks after the Update is published. We suggest you contact the news source directly for reprints.

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

SNPs in human beta-defensin 1 gene (DEFB1): frequencies in a Mexican population and new PCR-RFLPs assays
de Oca EP, et al.
Int J Immunogenet 2006 Oct;33(5):339-42

 

Infectious and Parasitic Diseases

Not polymorphism but methylation of class II transactivator gene promoter IV associated with persistent HBV infection
He Y, et al.
J Clin Virol 2006 Sep

Th-1 cytokines gene polymorphism in human brucellosis
Davoudi S, et al.
Int J Immunogenet 2006 Oct;33(5):355-9

Tumor Necrosis Factor-alpha Genetic Predisposing Factors Can Influence Clinical Severity in Nephropathia Epidemica
Maes P, et al.
Viral Immunol 2006 Fall;19(3):558-64

Polymorphisms of the gene coding for copper/zinc superoxide dismutase (SOD1) in patients with Japanese encephalitis
Thuong NT, et al.
Ann Trop Med Parasitol 2006 Oct;100(7):631-6

Partial protective effect of CCR5-Delta 32 heterozygosity in a cohort of heterosexual Italian HIV-1 exposed uninfected individuals
Trecarichi EM, et al.
AIDS Res Ther 2006 Sep;3(1):22

A polymorphism in toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis
Hawn TR, et al.
J Infect Dis 2006 Oct;194(8):1127-34

APOBEC3G genetic variants and their association with risk of HIV infection in highly exposed Caucasians
Valcke HS, et al.
AIDS 2006 Oct;20(15):1984-6

           

 

Neoplasms

Pharmacogenetics of capecitabine in advanced breast cancer patients
Largillier R, et al.
Clin Cancer Res 2006 Sep;12(18):5496-502

Meta- and Pooled Analysis of GSTT1 and Lung Cancer: A Huge-GSEC Review
Raimondi S, et al.
Am J Epidemiol 2006 Sep

The significance of the hemochromatosis genetic variants in multiple myeloma in comparison to that of myelodysplastic syndrome
Varkonyi J, et al.
Ann Hematol 2006 Sep

MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk
Debniak T, et al.
Int J Cancer 2006 Sep

Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma
De Roos AJ, et al.
Cancer Epidemiol Biomarkers Prev 2006 Sep;15(9):1647-53

Genetic Variants of the Vitamin D Receptor Gene Alter Risk of Cutaneous Melanoma
Li C, et al.
J Invest Dermatol 2006 Sep

Matrix metalloproteinase polymorphisms and survival in stage I non-small cell lung cancer
Heist RS, et al.
Clin Cancer Res 2006 Sep;12(18):5448-53

BRCA1 and TP53 mutation spectrum of breast carcinoma in an ethnic population of Kashmir, an emerging high-risk area
Eachkoti R, et al.
Cancer Lett 2006 Sep

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation
Steffen J, et al.
Int J Cancer 2006 Sep

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients
Rashid MU, et al.
Int J Cancer 2006 Sep

Matrix Metalloproteinase-1 and -9 Promoter Polymorphisms and Endometrial Carcinoma Risk in a Japanese Population
Sugimoto M, et al.
J Soc Gynecol Investig 2006 Sep

Folate metabolism polymorphisms influence risk of colorectal adenoma recurrence
Hubner RA, et al.
Cancer Epidemiol Biomarkers Prev 2006 Sep;15(9):1607-13

Endometrial Cancer Risk Is Associated with Variants of the Mismatch Repair Genes MLH1 and MSH2
Beiner ME, et al.
Cancer Epidemiol Biomarkers Prev 2006 Sep;15(9):1636-40

Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk
Rebbeck TR, et al.
J Natl Cancer Inst 2006 Sep;98(18):1311-20

Interleukin-1{beta} and Interleukin-1 Receptor Antagonist Gene Polymorphisms and Gastric Cancer: A Meta-analysis
Camargo MC, et al.
Cancer Epidemiol Biomarkers Prev 2006 Sep;15(9):1674-87

A comprehensive analysis of the AR gene and risk of breast cancer: results from the NCI Breast and Prostate Cancer Cohort Consortium (BPC3)
Cox DG, et al.
Breast Cancer Res 2006 Sep;8(5):R54

Use of Analgesics and Nonsteroidal Anti-inflammatory Drugs, Genetic Predisposition, and Bladder Cancer Risk in Spain
Fortuny J, et al.
Cancer Epidemiol Biomarkers Prev 2006 Sep;15(9):1696-702

 

Endocrine, Nutritional and Metabolic Diseases

Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74
Simmonds MJ, et al.
Clin Endocrinol (Oxf) 2006 Oct;65(4):429-32

Association between apolipoprotein E polymorphism and serum lipid and apolipoprotein levels with Alzheimer's disease
Raygani AV, et al.
Neurosci Lett 2006 Sep

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest-of-the-world
Sobreira E, et al.
Mol Genet Metab 2006 Sep

Menstrual cycle markers of ovarian aging and sex steroid hormone genotypes
Sowers MR, et al.
Am J Med 2006 Sep;119(9 Suppl 1):S31-43

Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation
Bertinetto FE, et al.
Int J Immunogenet 2006 Oct;33(5):375-84

ASSOCIATION BETWEEN ALDOSTERONE PRODUCTION AND VARIATION IN THE 11-BETA HYDROXYLASE (CYP11B1) GENE
Imrie H, et al.
J Clin Endocrinol Metab 2006 Sep

No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations
Cinek O, et al.
Diabetes Res Clin Pract 2006 Sep

Association between Neuromedin U gene variants and overweight and obesity
Hainerova I, et al.
J Clin Endocrinol Metab 2006 Sep

 

Diseases of the Blood & Blood-Forming Organ Disorders

Platelet functional implications of glycoprotein Ibalpha polymorphisms in African Americans
Williams MS, et al.
Am J Hematol 2006 Sep

 

Mental Disorders

Association study between the dopamine receptor D(4) gene and obsessive-compulsive disorder
Camarena B, et al.
Eur Neuropsychopharmacol 2006 Sep

A Single Nucleotide Polymorphism Fine Mapping Study of Chromosome 1q42.1 Reveals the Vulnerability Genes for Schizophrenia, GNPAT and DISC1: Association with Impairment of Sustained Attention
Liu YL, et al.
Biol Psychiatry 2006 Sep;60(6):554-62

Effect to the serotonin transporter gene (5-HTT) on personality dimensions in individuals without psychopathology
Lanzagorta N, et al.
Actas Esp Psiquiatr 2006 Sep-2006 Oct;34(5):303-8

Serotonin 2A receptor gene is associated with personality traits, but not to disorder, in patients with borderline personality disorder
Ni X, et al.
Neurosci Lett 2006 Sep

Polymorphism in the serotonin transporter gene and moderators of prolactin response to meta-chlorophenylpiperazine in African-American cocaine abusers and controls
Mannelli P, et al.
Psychiatry Res 2006 Sep

           

 

Diseases of the Nervous System and Sense Organs

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
Hughes AE, et al.
Nat Genet 2006 Sep

Distribution of Optineurin Sequence Variations in an Ethnically Diverse Population of Low-tension Glaucoma Patients From the United States
Hauser MA, et al.
J Glaucoma 2006 Oct;15(5):358-63

Association analysis of the paraoxonase-1 gene with Alzheimer's disease
Cellini E, et al.
Neurosci Lett 2006 Sep

Association Analysis of Peroxisome Proliferator-Activated Receptor Gamma Polymorphisms and Late Onset Alzheimer's Disease in the Finnish Population
Koivisto AM, et al.
Dement Geriatr Cogn Disord 2006 Sep;22(5-6):449-53

Paraoxonase cluster polymorphisms are associated with sporadic ALS
Saeed M, et al.
Neurology 2006 Sep;67(5):771-6

ABCB1 genotypes and haplotypes in patients with dementia and age-matched non-demented control patients
Frankfort SV, et al.
Mol Neurodegener 2006 Sep;1(1):13

CFH, ELOVL4, PLEKHA1, and LOC387715 genes and susceptibility to Age-Related Maculopathy: AREDS and CHS cohorts and meta-analyses
Conley YP, et al.
Hum Mol Genet 2006 Sep

 

Diseases of the Circulatory System

Functional Variants in the Lymphotoxin-{alpha} Gene Predict Cardiovascular Disease in Dialysis Patients
Liu Y, et al.
J Am Soc Nephrol 2006 Sep

The Gene Encoding Transforming Growth Factor {beta}1 Confers Risk of Ischemic Stroke and Vascular Dementia
Kim Y & Lee C
Stroke 2006 Sep

Genetic and acquired inflammatory conditions are synergistically associated with early carotid atherosclerosis
Markus HS, et al.
Stroke 2006 Sep;37(9):2253-9

Increase in interleukin-6 following arterial injury is related to insulin resistance, the -174G-->C polymorphism and complex plaque morphology
Marso SP, et al.
Int J Immunogenet 2006 Oct;33(5):347-54

Association Between A/C1166 Gene Polymorphism of the Angiotensin II Type 1 Receptor and Biventricular Functions in Patients With Acute Myocardial Infarction
Ulgen MS, et al.
Circ J 2006 Oct;70(10):1275-9

Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke
Yamada Y
Circ J 2006 Oct;70(10):1240-8

Association of Adiponectin Gene Variations with Risk of Incident Myocardial Infarction and Ischemic Stroke: A Nested Case-Control Study
Hegener HH, et al.
Clin Chem 2006 Sep

The factor XIII Val34Leu polymorphism: is it protective against idiopathic venous thromboembolism?
Wells PS, et al.
Blood Coagul Fibrinolysis 2006 Oct;17(7):533-8

The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients
de Groote P, et al.
Am Heart J 2006 Oct;152(4):736-41

Stromelysin-1 5A/6A and eNOS T-786C Polymorphisms, MTHFR C677T and A1298C Mutations, and Cigarette-Cannabis Smoking: A Pilot, Hypothesis-Generating Study of Gene-Environment Pathophysiological Associations With Buerger's Disease
Glueck CJ, et al.
Clin Appl Thromb Hemost 2006 Oct;12(4):427-39

Association Between the UGT1A1*28 Allele, Bilirubin Levels, and Coronary Heart Disease in the Framingham Heart Study
Lin JP, et al.
Circulation 2006 Sep

Circulating Activities of Angiotensin-Converting Enzyme, Its Homolog, Angiotensin-Converting Enzyme 2, and Neprilysin in a Family Study
Rice GI, et al.
Hypertension 2006 Sep

Relationship of classical and non-classical risk factors with genetic variants relevant to coronary heart disease
Manresa JM, et al.
Eur J Cardiovasc Prev Rehabil 2006 Oct;13(5):738-44

Both T-786C and G894T polymorphism of endothelial nitric oxide synthase affect in-vitro endothelium-dependent relaxation of internal mammary artery rings from patients with coronary artery disease
Erbs S, et al.
Eur J Cardiovasc Prev Rehabil 2006 Oct;13(5):826-31

The screening power of methylenetetrahydrofolate reductase C677T polymorphism versus plasma homocysteine concentration in patients with stenosis of the internal carotid artery
Loncar R, et al.
Thromb J 2006 Sep;4(1):16

 

Diseases of the Respiratory System

Involvement of TNF{alpha} -308A Promoter Polymorphism in the Development of Asthma in Children Infected with Chlamydophila pneumoniae
Tolgyesi G, et al.
Pediatr Res 2006 Sep

[TGF-beta1 gene polymorphism in chronic obstructive pulmonary disease]
Liebhart J, et al.
Pneumonol Alergol Pol 2005;73(3):216-20

 

Diseases of the Digestive System

The +1059G/C polymorphism in the C-reactive protein (CRP) gene is associated with involvement of the terminal ileum and decreased serum CRP levels in patients with Crohn's disease
Thalmaier D, et al.
Aliment Pharmacol Ther 2006 Oct;24(7):1105-15

FOXP3 polymorphisms in type 1 diabetes and coeliac disease
Bjornvold M, et al.
J Autoimmun 2006 Sep

Absence of association between the multidrug resistance (MDR1) gene and inflammatory bowel disease
Oostenbrug LE, et al.
Scand J Gastroenterol 2006 Oct;41(10):1174-82

 

Diseases of the Genitourinary System

Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility
Aoki VW, et al.
Fertil Steril 2006 Sep

 

Complications of Pregnancy, Childbirth, and the Puerperium

Prevalence of factor V Leiden, prothrombin and methylene tetrahydrofolate reductase mutations in women with adverse pregnancy outcomes in Lebanon
Zahed LF, et al.
Am J Obstet Gynecol 2006 Oct;195(4):1114-8

 

Diseases of the Skin and Subcutaneous Tissue

Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood
Barker JN, et al.
J Invest Dermatol 2006 Sep

High frequency of BRAFV600E mutation in acquired nevi and small congenital nevi, but low frequency of mutation in medium-sized congenital nevi
Ichii-Nakato N, et al.
J Invest Dermatol 2006 Sep;126(9):2111-8

 

Diseases of the Musculoskeletal System and Connective Tissue

Racial or ethnic differences in allele frequencies of single-nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene and their influence on response to methotrexate in rheumatoid arthritis
Hughes LB, et al.
Ann Rheum Dis 2006 Sep;65(9):1213-8

Relationship of glutathione S-transferase genotypes with side-effects of pulsed cyclophosphamide therapy in patients with systemic lupus erythematosus
Zhong S, et al.
Br J Clin Pharmacol 2006 Oct;62(4):457-72

Influence of Genetic Polymorphisms on Bone Disease of Preterm Infants
Funke S, et al.
Pediatr Res 2006 Sep

Evidence for Unique Association Signals in SLE at the CD28-CTLA4-ICOS Locus in a Family-Based Study
Graham DC, et al.
Hum Mol Genet 2006 Sep

 

Symptoms, Signs and Ill-defined Conditions

Influence of DNA repair gene polymorphisms of hOGG1, XRCC1, XRCC3, ERCC2 and the folate metabolism gene MTHFR on chromosomal aberration frequencies
Skjelbred CF, et al.
Mutat Res 2006 Sep

Effect of APOE polymorphisms on early responses to traumatic brain injury
Jiang Y, et al.
Neurosci Lett 2006 Sep

The angiotensin converting enzyme I/D polymorphism in long distance runners
Hruskovicova H, et al.
J Sports Med Phys Fitness 2006 Sep;46(3):509-13

A Genetic Association Study of the Functional A118G Polymorphism of the Human {micro}-Opioid Receptor Gene in Patients with Acute and Chronic Pain
Janicki PK, et al.
Anesth Analg 2006 Oct;103(4):1011-7

CKMM Gene Polymorphism and Running Economy responses to a 18-week 5000 m training program
Duoqi Z, et al.
Br J Sports Med 2006 Sep

 

Injury and Poisoning

Association of Polymorphisms in AhR, CYP1A1, GSTM1, and GSTT1 Genes with Levels of DNA Damage in Peripheral Blood Lymphocytes among Coke-Oven Workers
Chen Y, et al.
Cancer Epidemiol Biomarkers Prev 2006 Sep;15(9):1703-7

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
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