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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 13, 2006
Volume 17, 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

HLA Alleles and Haplotypes in French North African Immigrants
Pedron B, et al.
Hum Immunol 2006 Jul;67(7):540-50

 

Infectious and Parasitic Diseases

Association of SARS susceptibility with single nucleic acid polymorphisms of OAS1 and MxA genes: a case-control study
He J, et al.
BMC Infect Dis 2006 Jul;6(1):106

Association between chronic hepatitis B virus infection and interleukin-10, tumor necrosis factor-alpha gene promoter polymorphisms
Cheong JY, et al.
J Gastroenterol Hepatol 2006 Jul;21(7):1163-9

           

 

Neoplasms

CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors
Szymanska-Pasternak J, et al.
Gynecol Oncol 2006 Jul

Interleukin-8 gene polymorphism associated with susceptibility to non-cardia gastric carcinoma with microsatellite instability
Shirai K, et al.
J Gastroenterol Hepatol 2006 Jul;21(7):1129-35

Gastric Cancer and the High Combination Prevalence of Host Cytokine Genotypes and Helicobacter pylori in Honduras
Morgan DR, et al.
Clin Gastroenterol Hepatol 2006 Jul

Colorectal cancer and genetic polymorphisms of CYP1A1, GSTM1 and GSTT1: A case-control study in the Grampian region of Scotland
Little J, et al.
Int J Cancer 2006 Jul

Genetic Polymorphisms of eNOS, Hormone Receptor Status, and Survival of Breast Cancer
Choi JY, et al.
Breast Cancer Res Treat 2006 Jul

Genetic analysis of Caveolin-1 and eNOS genes in colorectal cancer
Conde MC, et al.
Oncol Rep 2006 Aug;16(2):353-9

Association of Urokinase Gene 3'-UTR T/C Polymorphism with Bladder Cancer
Manchanda PK, et al.
Urol Int 2006;77(1):81-4

Novel Functional Single Nucleotide Polymorphisms in the Latent Transforming Growth Factor-{beta} Binding Protein-1L Promoter: Effect on Latent Transforming Growth Factor-{beta} Binding Protein-1L Expression Level and Possible Prognostic Significance in Ov
Higashi T, et al.
J Mol Diagn 2006 Jul;8(3):342-50

Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 cancer cases: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies
Karppinen SM, et al.
J Med Genet 2006 Jul

Differential Roles of Angiotensinogen and Angiotensin Receptor type 1 Polymorphisms in Breast Cancer Risk
Ladd AM, et al.
Breast Cancer Res Treat 2006 Jul

N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients
Borlak J & Reamon-Buettner SM
BMC Med Genet 2006 Jul;7(1):58

FGFR4 Arg388 Allele Is Associated With Resistance to Adjuvant Therapy in Primary Breast Cancer
Thussbas C, et al.
J Clin Oncol 2006 Jul

Prevalence of factor V Leiden and prothrombin G20210A in patients with gastric cancer
Battistelli S, et al.
World J Gastroenterol 2006 Jul;12(26):4179-80

The XRCC1 -77T>C variant: haplotypes, breast cancer risk, response to radiotherapy and the cellular response to DNA damage
Brem R, et al.
Carcinogenesis 2006 Jul

Myeloperoxidase G-463A polymorphism and the risk of gastric cancer: a case-control study1
Zhu H, et al.
Carcinogenesis 2006 Jul

The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothiocyanate intake in the Singapore Chinese Health Study
Probst-Hensch NM, et al.
Carcinogenesis 2006 Jul

Low frequency of the CHEK2*1100delC mutation among breast cancer probands from three regions of Poland
Kwiatkowska E, et al.
Neoplasma 2006;53(4):305-8

Genetic polymorphism at GSTM1 and GSTT1 gene loci and susceptibility to oral cancer
Sharma A, et al.
Neoplasma 2006;53(4):309-15

Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy
Sakamoto K, et al.
Oncol Rep 2006 Aug;16(2):381-7

Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population
Kanzaki H, et al.
Int J Mol Med 2006 Aug;18(2):279-84

Breast Cancer Risk is not Associated with Polymorphic Forms of Xeroderma Pigmentosum Genes in a Cohort of Women from Washington County, Maryland
Jorgensen TJ, et al.
Breast Cancer Res Treat 2006 Jul

 

Endocrine, Nutritional and Metabolic Diseases

Modifier effect of the Toll-like receptor 4 D299G polymorphism in children with cystic fibrosis
Urquhart DS, et al.
Arch Immunol Ther Exp (Warsz) 2006 Jul

Assessment of genetic factors for type 2 diabetes mellitus
Yamada Y, et al.
Int J Mol Med 2006 Aug;18(2):299-308

Susceptibility to Guillain-Barre syndrome is associated to polymorphisms of CD1 genes
Caporale CM, et al.
J Neuroimmunol 2006 Jun

Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B(12) concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children
Alessio AC, et al.
Thromb Res 2006 Jul

Diagnosing familial hypercholesterolaemia: the relevance of genetic testing
van Aalst-Cohen ES, et al.
Eur Heart J 2006 Jul

MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients
Mtiraoui N, et al.
Diabetes Res Clin Pract 2006 Jul

Polymorphisms of TNF microsatellite marker a and HLA-DR-DQ in diabetes mellitus-a study in 609 Swedish subjects
Torn C, et al.
Hum Immunol 2006 Jul;67(7):527-34

Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip(R) Microelectronic Array Technology
Laios E & Drogari E
Clin Chim Acta 2006 Jun

Lack of Association between the Pro12Ala Polymorphism in PPAR-gamma2 Gene and Body Weight Changes, Insulin Resistance and Chronic Diabetic Complications in Obese Patients with Type 2 Diabetes
Stefanski A, et al.
Arch Med Res 2006 Aug;37(6):736-43

Association between the Severity of Hashimoto's Disease and the Functional +874A/T Polymorphism in the Interferon-gamma Gene
Ito C, et al.
Endocr J 2006 Jul

The lipoprotein lipase gene in combined hyperlipidemia: evidence of a protective allele depletion
Wung SF, et al.
Lipids Health Dis 2006 Jul;5(1):19

The Pro12Ala Variant of the PPARG Gene is a Risk Factor for PPAR{gamma}/{alpha} Agonist Induced Edema in Type 2 Diabetic Patients
Hansen L, et al.
J Clin Endocrinol Metab 2006 Jul

 

Mental Disorders

COMT genotype and manic symptoms in schizophrenia
Derosse P, et al.
Schizophr Res 2006 Jul

Meta-Analyses of ALDH2 and ADH1B With Alcohol Dependence in Asians
Luczak SE, et al.
Psychol Bull 2006 Jul;132(4):607-21

Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study
Dikeos DG, et al.
Psychiatr Genet 2006 Aug;16(4):169-71

Serotonin transporter gene-linked polymorphic region: possible pharmacogenetic implications of rare variants
Smeraldi E, et al.
Psychiatr Genet 2006 Aug;16(4):153-8

Dopamine D4 receptor gene and the -521C>T polymorphism of the upstream region of the dopamine D4 receptor gene in schizophrenia
Lung FW, et al.
Psychiatr Genet 2006 Aug;16(4):139-43

An association study between catechol-O-methyl transferase gene polymorphism and methamphetamine psychotic disorder
Suzuki A, et al.
Psychiatr Genet 2006 Aug;16(4):133-8

Number of risk genotypes is a risk factor for major depressive disorder: a case control study
Garriock HA, et al.
Behav Brain Funct 2006 Jul;2(1):24

Tryptophan hydroxylase and serotonin transporter gene polymorphism does not affect the diagnosis, clinical features and treatment outcome of panic disorder in the Korean population
Kim W, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Jul

Impact of Catechol-O-Methyltransferase on Prefrontal Brain Functioning in Schizophrenia Spectrum Disorders
Ehlis AC, et al.
Neuropsychopharmacology 2006 Jun

An association study of the brain-derived neurotrophic factor Val66Met polymorphism and amphetamine response
Flanagin BA, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jul

DNA pooling: a comprehensive, multi-stage association analysis of ACSL6 and SIRT5 polymorphisms in schizophrenia
Chowdari KV, et al.
Genes Brain Behav 2006 Jul

Association study between genetic variants at the PIP5K2A gene locus and schizophrenia and bipolar affective disorder
Jamra RA, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jul

Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder
Flomen RH, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jul

           

 

Diseases of the Nervous System and Sense Organs

Paraoxonase gene polymorphisms and sporadic ALS
Slowik A, et al.
Neurology 2006 Jul

Association of HFE common mutations with Parkinsons disease, Alzheimers disease and mild cognitive impairment in a Portuguese cohort
Guerreiro RJ, et al.
BMC Neurol 2006 Jul;6(1):24

NOS2A and the modulating effect of cigarette smoking in Parkinson's disease
Hancock DB, et al.
Ann Neurol 2006 Jul

Complement Factor H Increases Risk for Atrophic Age-Related Macular Degeneration
Postel EA, et al.
Ophthalmology 2006 Jul

An apolipoprotein E variant may protect against age-related macular degeneration through cytokine regulation
Bojanowski CM, et al.
Environ Mol Mutagen 2006 Jul

Exploring an interaction of adenosine A2A receptor variability with coffee and tea intake in Parkinson's disease
Tan EK, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jul

PADI4 gene in multiple sclerosis: A family-based association study
Tommasi C, et al.
J Neuroimmunol 2006 Jul

A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease
Riemenschneider M, et al.
Hum Mol Genet 2006 Jul

Association studies between the plasmin genes and late-onset Alzheimer's disease
Shibata N, et al.
Neurobiol Aging 2006 Jul

The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss
Van Laer L, et al.
Hum Mutat 2006 Jul

 

Diseases of the Circulatory System

Polymorphisms of the Phosphodiesterase 4D, cAMP-Specific (PDE4D) Gene and Risk of Ischemic Stroke. A Prospective, Nested Case-Control Evaluation
Zee RY, et al.
Stroke 2006 Jul

Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery
Podgoreanu MV, et al.
Circulation 2006 Jul;114(1 Suppl):I275-81

No association of the CYP3A5*1 allele with blood pressure and left ventricular mass and geometry: the KORA/MONICA Augsburg echocardiographic substudy
Lieb W, et al.
Clin Sci (Lond) 2006 Jul

Cholesteryl ester transfer protein promoter -1337 C>T polymorphism protects against coronary atherosclerosis in Japanese patients with heterozygous familial hypercholesterolemia
Takata M, et al.
Clin Sci (Lond) 2006 Jul

The 3'-UTR C>T polymorphism of the oxidized LDL-receptor 1 (OLR1) gene does not associate with coronary artery disease in Italian CAD patients or with the severity of coronary disease
Sentinelli F, et al.
Nutr Metab Cardiovasc Dis 2006 Jul;16(5):345-52

Integrin, alpha 2 gene C807T polymorphism and risk of ischemic stroke: A meta-analysis
Nikolopoulos GK, et al.
Thromb Res 2006 Jun

Distinct association of factor V-Leiden and prothrombin G20210A mutations with deep venous thrombosis in Tunisia and Lebanon
Bouaziz-Borgi L, et al.
Am J Hematol 2006 Jul;81(8):641-3

 

Diseases of the Digestive System

TGF-beta1 gene polymorphisms in periodontal diseases
Atilla G, et al.
Clin Biochem 2006 Jun

NOD2/CARD15 mutations in Croatian patients with Crohn's disease: prevalence and genotype-phenotype relationship
Cukovic-Cavka S, et al.
Eur J Gastroenterol Hepatol 2006 Aug;18(8):895-9

 

Diseases of the Genitourinary System

Association between Cyclosporine Concentration and Genetic Polymorphisms of CYP3A5 and MDR1 during the Early Stage after Renal Transplantation
Azarpira N, et al.
Exp Clin Transplant 2006 Jun;4(1):416-9

Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome
Colak Y, et al.
Eur J Gastroenterol Hepatol 2006 Aug;18(8):917-20

ACE Gene Polymorphism in Turkish Children with Nephrotic Syndrome
Sizmaz Celik U, et al.
Ren Fail 2006;28(5):401-3

 

Diseases of the Skin and Subcutaneous Tissue

The Non-Synonymous C1858T Substitution in the PTPN22 Gene is Associated with Susceptibility to the Severe Forms of Alopecia Areata
Kemp EH, et al.
Hum Immunol 2006 Jul;67(7):535-9

A Role for KIR Gene Variants Other Than KIR2DS1 in Conferring Susceptibility to Psoriasis
Ploski R, et al.
Hum Immunol 2006 Jul;67(7):521-6

 

Diseases of the Musculoskeletal System and Connective Tissue

Beta3-Adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES)
Wang CY, et al.
BMC Med Genet 2006 Jul;7(1):57

The association of -627 interleukin-10 promoter polymorphism in Chinese patients with systemic lupus erythematosus
Lin PW, et al.
Clin Rheumatol 2006 Jul

SLC22A4, RUNX1, and SUMO4 Polymorphisms Are Not Associated with Rheumatoid Arthritis: A Case-Control Study in a Spanish Population
Orozco G, et al.
J Rheumatol 2006 Jul;33(7):1235-8

Cyclooxygenase-2 Genotype and Rheumatoid Arthritis
Lee KH, et al.
J Rheumatol 2006 Jul;33(7):1231-4

Extensive multiallelic analysis of the relationship between HLA-DRB1 and rheumatoid arthritis using a Bayesian partition model
Marotte H, et al.
Genes Immun 2006 Jul

 

Symptoms, Signs and Ill-defined Conditions

Influence of DNA repair polymorphisms on biomarkers of genotoxic damage in peripheral lymphocytes of healthy subjects
Zijno A, et al.
Mutat Res 2006 Jul

 

Injury and Poisoning

Activity of esterases and effect of genetic polymorphism in workers exposed to organophosphorus pesticides
Kuang XY, et al.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2006 Jun;24(6):333-6

 

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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