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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 10, 2007
Volume 18, No. 19

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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.


Infectious and Parasitic Diseases

A simple screening approach to reduce B*5701-associated abacavir hypersensitivity on the basis of sequence variation in HIV reverse transcriptase
Chui CK, et al.
Clin Infect Dis 2007 Jun;44(11):1503-8

Effects of human leukocyte antigen class I genetic parameters on clinical outcomes and survival after initiation of highly active antiretroviral therapy
Brumme ZL, et al.
J Infect Dis 2007 Jun;195(11):1694-704

A polymorphism in the inducible nitric oxide synthase gene is associated with tuberculosis
Miguel Gomez L, et al.
Tuberculosis (Edinb) 2007 Apr

Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever
Ali S, et al.
J Interferon Cytokine Res 2007 Apr;27(4):271-80

 

Neoplasms

Functional polymorphisms in the cyclooxygenase 2 (COX-2) gene and risk of breast cancer in a Chinese population
Gao J, et al.
J Toxicol Environ Health A 2007 Jun;70(11):908-15

Single nucleotide polymorphism of the JWA gene is associated with risk of leukemia: a case-control study in a Chinese population
Zhu YJ, et al.
J Toxicol Environ Health A 2007 Jun;70(11):895-900

Functional polymorphisms of JWA gene are associated with risk of bladder cancer
Li CP, et al.
J Toxicol Environ Health A 2007 Jun;70(11):876-84

Analysis of multiple single nucleotide polymorphisms (SNPs) of myeloperoxidase (MPO) to screen for genetic markers associated with acute leukemia in Chinese Han population
Zhang J, et al.
J Toxicol Environ Health A 2007 Jun;70(11):901-7

Identification and functional characterization of JWA polymorphisms and their association with risk of gastric cancer and esophageal squamous cell carcinoma in a Chinese population
Tang WY, et al.
J Toxicol Environ Health A 2007 Jun;70(11):885-94

MDM2 Promoter SNP309 Is Associated with Risk of Occurrence and Advanced Lymph Node Metastasis of Nasopharyngeal Carcinoma in Chinese Population
Zhou G, et al.
Clin Cancer Res 2007 May;13(9):2627-33

Microsomal glutathione S-transferase gene polymorphisms and colorectal cancer risk in a Han Chinese population
Zhang H, et al.
Int J Colorectal Dis 2007 May

Matrix metalloproteinase polymorphisms are associated with bladder cancer invasiveness
Kader AK, et al.
Clin Cancer Res 2007 May;13(9):2614-20

Epidermal growth factor receptor mutations and their correlation with gefitinib therapy in patients with non-small cell lung cancer: a meta-analysis based on updated individual patient data from six medical centers in mainland China
Wu YL, et al.
J Thorac Oncol 2007 May;2(5):430-9

Relationship between XRCC1 polymorphisms and susceptibility to prostate cancer in men from Han, Southern China
Xu Z, et al.
Asian J Androl 2007 May;9(3):331-8

Interleukin-1beta Exon 5 and Interleukin-1 Receptor Antagonist in Children With Immune Thrombocytopenic Purpura
Wu KH, et al.
J Pediatr Hematol Oncol 2007 May;29(5):305-8

Genotyping of the Lactase-Phlorizin Hydrolase C/T-13910 Polymorphism by Means of a New Rapid Denaturing High-Performance Liquid Chromatography-Based Assay in Healthy Subjects and Colorectal Cancer Patients
Piepoli A, et al.
J Biomol Screen 2007 May

Associations between HLA Class I alleles and the prevalence of nasopharyngeal carcinoma (NPC) among Tunisians
Li X, et al.
J Transl Med 2007 May;5(1):22

Inducible nitric oxide synthase promoter polymorphism, cigarette smoking, and urothelial carcinoma risk
Shen CH, et al.
Urology 2007 May;69(5):1001-6

Association between Functional EGF+61 Polymorphism and Glioma Risk
Costa BM, et al.
Clin Cancer Res 2007 May;13(9):2621-6

EGFR and HER2 gene copy number and response to first-line chemotherapy in patients with advanced non-small cell lung cancer (NSCLC)
Cappuzzo F, et al.
J Thorac Oncol 2007 May;2(5):423-9

Absence of the common IGF1 19 CA-repeat allele is more common among BRCA1 mutation carriers than among non-carriers from BRCA1 families
Henningson M, et al.
Fam Cancer 2007 May

Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies
Guillem VM, et al.
Leukemia 2007 May

Re-assessment of the influence of polymorphisms of phase-II metabolic enzymes on renal cell cancer risk of trichloroethylene-exposed workers
Wiesenhutter B, et al.
Int Arch Occup Environ Health 2007 May

Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma
Cannella S, et al.
Cancer 2007 May

HLA-DQA1 and -DQB1 allele typing in southern Taiwanese women with breast cancer
Chen PC, et al.
Clin Chem Lab Med 2007 May;45(5):611-4

CYP19 TCT tri-nucleotide Del/Del genotype is a susceptibility marker for prostate cancer in a Taiwanese population
Huang YC, et al.
Urology 2007 May;69(5):996-1000

TNF-alpha, TNF-beta, IL-6, IL-10, PECAM-1 and the MPO Inflammatory Gene Polymorphisms in Osteosarcoma
Oliveira ID, et al.
J Pediatr Hematol Oncol 2007 May;29(5):293-7

Influence of VEGF-A gene variation and protein levels in breast cancer susceptibility and severity
Balasubramanian SP, et al.
Int J Cancer 2007 Apr

 

Endocrine, Nutritional and Metabolic Diseases

High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA)
Storm K, et al.
J Cyst Fibros 2007 May

Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13
Friedel S, et al.
BMC Genet 2007 May;8(1):17

TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis
Cauchi S, et al.
J Mol Med 2007 May

Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure
Zhao H, et al.
Fertil Steril 2007 May

The Peroxisome Proliferator-activated Receptor Gamma Coactivator-1 Alpha Gene (PGC-1alpha) is Not Associated with Type 2 Diabetes Mellitus or Body Mass Index Among Hispanic and Non Hispanic Whites from Colorado
Nelson TL, et al.
Exp Clin Endocrinol Diabetes 2007 Apr;115(4):268-75

Glutamate Cysteine Ligase Catalytic Subunit Promoter Polymorphisms and Associations with Type 1 Diabetes Age-at-onset and GAD65 Autoantibody Levels
Bekris LM, et al.
Exp Clin Endocrinol Diabetes 2007 Apr;115(4):221-8

 

Diseases of the Blood & Blood-Forming Organ Disorders

Mutations in the SBDS gene in acquired aplastic anemia
Calado RT, et al.
Blood 2007 May

 

Mental Disorders

Novelty seeking and the dopamine D4 receptor gene (DRD4) revisited in Asians: Haplotype characterization and relevance of the 2-repeat allele
Reist C, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Interactions Between Life Stressors and Susceptibility Genes (5-HTTLPR and BDNF) on Depression in Korean Elders
Kim JM, et al.
Biol Psychiatry 2007 May

Interacting effects of the dopamine transporter gene and psychosocial adversity on attention-deficit/hyperactivity disorder symptoms among 15-year-olds from a high-risk community sample
Laucht M, et al.
Arch Gen Psychiatry 2007 May;64(5):585-90

DTNBP1 (Dystrobrevin Binding Protein 1) and Schizophrenia: Association Evidence in the 3' End of the Gene
Duan J, et al.
Hum Hered 2007 May;64(2):97-106

Monoamine oxidase-A polymorphisms might modify the association between the dopamine D(2)receptor gene and alcohol dependence
Huang SY, et al.
J Psychiatry Neurosci 2007 May;32(3):185-92

Support for involvement of the AHI1 locus in schizophrenia
Ingason A, et al.
Eur J Hum Genet 2007 May

Gene-gene interaction associated with neural reward sensitivity
Yacubian J, et al.
Proc Natl Acad Sci U S A 2007 May

A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
Baum AE, et al.
Mol Psychiatry 2007 May

No associations exist between five functional polymorphisms in the catechol-O-methyltransferase gene and schizophrenia in a Japanese population
Nunokawa A, et al.
Neurosci Res 2007 Apr

Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations
Clarimon J, et al.
Alcohol Clin Exp Res 2007 Apr;31(4):546-54

Association of alcohol craving with alpha-synuclein (SNCA)
Foroud T, et al.
Alcohol Clin Exp Res 2007 Apr;31(4):537-45

 

Diseases of the Nervous System and Sense Organs

High Incidence of GJB2 Mutations During Screening of Newborns for Hearing Loss in Austria
Ramsebner R, et al.
Ear Hear 2007 Jun;28(3):298-301

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution
Castelli L, et al.
J Neuroimmunol 2007 May

Association of Tumor Necrosis Factor Polymorphisms with Guillain-Barre Syndrome
Zhang J, et al.
Eur Neurol 2007 May;58(1):21-5

A dopamine D4 receptor exon 3 VNTR allele protecting against migraine without aura
de Sousa SC, et al.
Ann Neurol 2007 May

Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease
Deng H, et al.
Neurosci Lett 2007 Apr

Association studies between common variants in prolyl isomerase Pin1 and the risk for late-onset Alzheimer's disease
Nowotny P, et al.
Neurosci Lett 2007 Apr

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease
Coon KD, et al.
J Clin Psychiatry 2007 Apr;68(4):613-8

Diseases of the Circulatory System

The relationship between the insertion/deletion polymorphism of the ACE gene and hypertension in Iranian patients with type 2 diabetes
Nakhjavani M, et al.
Nephrol Dial Transplant 2007 May

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy
Matsushita Y, et al.
J Hum Genet 2007 May

Mannose-binding lectin gene polymorphisms in a cohort study of ANCA-associated small vessel vasculitis
Kamesh L, et al.
Rheumatology (Oxford) 2007 May

Association Between the Calcitonin-Related Peptide alpha (CALCA) Gene and Essential Hypertension in Japanese Subjects
Morita A, et al.
Am J Hypertens 2007 May;20(5):527-32

Common Y402H variant in complement factor H gene is not associated with susceptibility to myocardial infarction and its related risk factors
Stark K, et al.
Clin Sci (Lond) 2007 May

The alpha adducin Gly460Trp polymorphism and the antihypertensive effects of exercise among men with high blood pressure
Pescatello LS, et al.
Clin Sci (Lond) 2007 May

Complement factor H (Y402H) polymorphism and risk of coronary heart disease in US men and women
Pai JK, et al.
Eur Heart J 2007 May

A Common Allele on Chromosome 9 Associated with Coronary Heart Disease
McPherson R, et al.
Science 2007 May

Polymorphisms of ACE2 Gene are Associated With Essential Hypertension and Antihypertensive Effects of Captopril in Women
Fan X, et al.
Clin Pharmacol Ther 2007 May

A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Helgadottir A, et al.
Science 2007 May

Lipoprotein lipase gene PvuII polymorphism serum lipids and risk for coronary artery disease: Meta-analysis
Cagatay P, et al.
Dis Markers 2007;23(3):161-6

Influence of apolipoprotein E polymorphism on serum lipid and lipoprotein changes: a 21-year follow-up study from childhood to adulthood. The Cardiovascular Risk in Young Finns Study
Gronroos P, et al.
Clin Chem Lab Med 2007;45(5):592-8

Association of lipase lipoprotein polymorphisms with myocardial infarction and lipid levels
Gigek Cde O, et al.
Clin Chem Lab Med 2007;45(5):599-604

 

Diseases of the Respiratory System

Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma
Gao L, et al.
J Allergy Clin Immunol 2007 May;119(5):1111-8

 

Diseases of the Digestive System

A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn's Disease and Is Independent of CARD15 and IBD5
Prescott NJ, et al.
Gastroenterology 2007 May;132(5):1665-71

Cytotoxic T-Lymphocyte-Associated Antigen-4 Single Nucleotide Polymorphisms and Haplotypes in Primary Biliary Cirrhosis
Donaldson P, et al.
Clin Gastroenterol Hepatol 2007 May

Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease
de Ridder L, et al.
Inflamm Bowel Dis 2007 May

Polymorphisms of glutathione S-transferase M1, T1 and P1 in patients with reflux esophagitis and Barrett's esophagus
Kala Z, et al.
J Hum Genet 2007 May

IL23R Variation Determines Susceptibility But Not Disease Phenotype in Inflammatory Bowel Disease
Tremelling M, et al.
Gastroenterology 2007 May;132(5):1657-64

Association of deficiency for mannan-binding lectin with anti-mannan antibodies in Crohn's disease: A family study
Seibold F, et al.
Inflamm Bowel Dis 2007 May

 

Diseases of the Genitourinary System

Relationship between Apolipoprotein E polymorphism and nephropathy in type-2 diabetic patients
Leiva E, et al.
Diabetes Res Clin Pract 2007 May

Association between endometriosis and polymorphisms in endostatin and vascular endothelial growth factor and their serum levels in Korean women
Kim JG, et al.
Fertil Steril 2007 May

Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy
Li GS, et al.
Hum Mutat 2007 May

 

Diseases of the Musculoskeletal System and Connective Tissue

Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans
Reddy MV, et al.
Hum Genet 2007 May

A novel gene variation of TNF-alpha associated with ankylosing spondylitis: a reconfirmed study
Zhu X, et al.
Ann Rheum Dis 2007 May

Associations between the PTPN22 1858C>T polymorphism and radiographic joint destruction in patients with rheumatoid arthritis: Results from a 10-year longitudinal study
Lie BA, et al.
Ann Rheum Dis 2007 May

 

Congenital Anomalies

HOXA10 mutations in congenital absence of uterus and vagina
Lalwani S, et al.
Fertil Steril 2007 May

The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk
van der Linden IJ, et al.
J Hum Genet 2007 May

The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population
Parle-McDermott A, et al.
Am J Med Genet A 2007 May

 

Injury and Poisoning

Genetic polymorphisms in CYP1A1, CYP2D6, UGT1A6, UGT1A7, and SULT1A1 genes and correlation with benzene exposure in a Chinese occupational population
Gu SY, et al.
J Toxicol Environ Health A 2007 Jun;70(11):916-24

Sex and genetic associations with cerebrospinal fluid dopamine and metabolite production after severe traumatic brain injury
Wagner AK, et al.
J Neurosurg 2007 Apr;106(4):538-47

 

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Page last reviewed: May 10, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics