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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 12, 2007
Volume 18, No. 15

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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

Characterization and investigation of single-nucleotide polymorphisms (SNPs) and a novel TLR2 mutation in the human TLR2 gene
Merx S, et al.
Hum Mol Genet 2007 Apr

 

Neoplasms

Lack of association of some chemokine system polymorphisms with the risks of death and hepatocellular carcinoma occurrence in patients with alcoholic cirrhosis: a prospective study
Nahon P, et al.
Eur J Gastroenterol Hepatol 2007 May;19(5):425-31

The UDP-Glucuronosyltransferase 2B17 Gene Deletion Polymorphism: Sex-Specific Association with Urinary 4-(Methylnitrosamino)-1-(3-Pyridyl)-1-Butanol Glucuronidation Phenotype and Risk for Lung Cancer
Gallagher CJ, et al.
Cancer Epidemiol Biomarkers Prev 2007 Apr;16(4):823-8

Increased frequencies of glutathione-S-transferase (GSTM1 and GSTT1) null genotypes in Indian patients with chronic myeloid leukemia
Bajpai P, et al.
Leuk Res 2007 Apr

Polymorphisms of cytosolic serine hydroxymethyltransferase and risk of lung cancer: A case-control analysis
Wang L, et al.
Lung Cancer 2007 Apr

Heparanase gene haplotype (CGC) is associated with stage of disease in patients with ovarian carcinoma
Ralph S, et al.
Cancer Sci 2007 Apr

Confirmation of a Positive Association between Prostate Cancer Risk and a Locus at Chromosome 8q24
Suuriniemi M, et al.
Cancer Epidemiol Biomarkers Prev 2007 Apr;16(4):809-14

A Systematic Approach to Analysing Gene-Gene Interactions: Polymorphisms at the Microsomal Epoxide Hydrolase EPHX and Glutathione S-transferase GSTM1, GSTT1, and GSTP1 Loci and Breast Cancer Risk
Spurdle AB, et al.
Cancer Epidemiol Biomarkers Prev 2007 Apr;16(4):769-74

An investigation of relationships between hypoxia-inducible factor-1alpha gene polymorphisms and ovarian, cervical and endometrial cancers
Konac E, et al.
Cancer Detect Prev 2007 Apr

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility
Johnson N, et al.
Hum Mol Genet 2007 Apr

IL6, Aspirin, Nonsteroidal Anti-inflammatory Drugs, and Breast Cancer Risk in Women Living in the Southwestern United States
Slattery ML, et al.
Cancer Epidemiol Biomarkers Prev 2007 Apr;16(4):747-55

A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users
Xu X, et al.
Am J Clin Nutr 2007 Apr;85(4):1098-102

Chk1 frameshift mutation in sporadic and hereditary non-polyposis colorectal cancers with microsatellite instability
Kim CJ, et al.
Eur J Surg Oncol 2007 Apr

hOGG1 Ser326Cys polymorphism and susceptibility to gallbladder cancer in a Chinese population
Jiao X, et al.
Int J Cancer 2007 Apr

Glutathione S-transferase polymorphisms and oral cancer: A case-control study in Rio de Janeiro, Brazil
Hatagima A, et al.
Oral Oncol 2007 Apr

Insulin resistance-related genes and advanced left-sided colorectal adenoma
Gunter MJ, et al.
Cancer Epidemiol Biomarkers Prev 2007 Apr;16(4):703-8

Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study
Garcia-Closas M, et al.
BMC Cancer 2007 Apr;7(1):60

Meta-analysis of BRCA1 and BRCA2 penetrance
Chen S & Parmigiani G
J Clin Oncol 2007 Apr;25(11):1329-33

Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer
Gayther SA, et al.
Cancer Res 2007 Apr;67(7):3027-35

A Common 8q24 Variant in Prostate and Breast Cancer from a Large Nested Case-Control Study
Schumacher FR, et al.
Cancer Res 2007 Apr;67(7):2951-6

Two common chromosome 8q24 variants are associated with increased risk for prostate cancer
Wang L, et al.
Cancer Res 2007 Apr;67(7):2944-50

RNASEL Arg462Gln polymorphism and prostate cancer in PLCO
Daugherty SE, et al.
Prostate 2007 Apr

Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer
Schafmayer C, et al.
Int J Cancer 2007 Apr

Short tandem repeat polymorphism in exon 4 of esophageal cancer related gene 2 predicts relapse of oral squamous cell carcinoma
Blessmann M, et al.
Oral Oncol 2007 Apr

 

Endocrine, Nutritional and Metabolic Diseases

APOC3 Promoter Polymorphisms C-482T and T-455C Are Associated with the Metabolic Syndrome
Miller M, et al.
Arch Med Res 2007 May;38(4):444-51

Effect of Paraoxonase 1 Polymorphisms on the Response of Lipids and Lipoprotein-associated Enzymes to Treatment with Fluvastatin
Christidis DS, et al.
Arch Med Res 2007 May;38(4):403-10

Genetic variations at the endocannabinoid type 1 receptor gene (CNR1) are associated with obesity phenotypes in men
Russo P, et al.
J Clin Endocrinol Metab 2007 Apr

The Asp727Glu polymorphism in the TSH receptor is associated with insulin resistance in healthy elderly men
Peeters RP, et al.
Clin Endocrinol (Oxf) 2007 Apr

The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity: An association analysis in Caucasian and Japanese cohorts
Ban Y, et al.
J Autoimmun 2007 Apr

Study on the mitochondrial DNA variation in patients with type 2 diabetes mellitus
Ji J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Apr;24(2):167-72

The genetic and clinical characteristics of transcription factor 1 gene mutations in Chinese diabetes
Yang Z, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Apr;24(2):157-61

Relationship between increased relative birthweight and infections during pregnancy in children with a high-risk diabetes HLA genotype
Larsson HE, et al.
Diabetologia 2007 Apr

Genetic association of single nucleotide polymorphisms in endonuclease G-like 1 gene with type 2 diabetes in a Japanese population
Moritani M, et al.
Diabetologia 2007 Apr

Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure
Qin Y, et al.
Fertil Steril 2007 Apr

Association between the T-381C polymorphism of the Brain Natriuretic Peptide gene and risk of type 2 diabetes in human populations
Meirhaeghe A, et al.
Hum Mol Genet 2007 Apr

Variations in adiponectin receptor genes and susceptibility to type 2 diabetes in women: A tagging-SNP haplotype analysis
Qi L, et al.
Diabetes 2007 Apr

Effect of the melanocortin-3 receptor C17A and G241A variants on weight loss in childhood obesity
Santoro N, et al.
Am J Clin Nutr 2007 Apr;85(4):950-3

 

Diseases of the Blood & Blood-Forming Organ Disorders

Genetic polymorphisms associated with priapism in sickle cell disease
Elliott L, et al.
Br J Haematol 2007 May;137(3):262-7

 

Mental Disorders

Apolipoprotein E polymorphism, homocysteine serum levels and hippocampal volume in patients with alcoholism: an investigation of a gene-environment interaction
Wilhelm J, et al.
Pharmacogenomics J 2007 Apr

No association found between the promoter variants of ADRA1A and schizophrenia in the Chinese population
Huang K, et al.
J Psychiatr Res 2007 Apr

5-HTTLPR Biases Amygdala Activity in Response to Masked Facial Expressions in Major Depression
Dannlowski U, et al.
Neuropsychopharmacology 2007 Apr

Association study between the cholecystokinin A receptor gene and schizophrenia in the Japanese population
Minato T, et al.
Psychiatr Genet 2007 Apr;17(2):117-9

Evaluation of OPRM1 variants in heroin dependence by family-based association testing and meta-analysis
Glatt SJ, et al.
Drug Alcohol Depend 2007 Apr

Confirmation that a specific haplotype of the dopamine transporter gene is associated with combined-type ADHD
Asherson P, et al.
Am J Psychiatry 2007 Apr;164(4):674-7

Association between CCK-AR gene and schizophrenia with auditory hallucinations
Toirac I, et al.
Psychiatr Genet 2007 Apr;17(2):47-53

NCAM1 association study of bipolar disorder and schizophrenia: polymorphisms and alternatively spliced isoforms lead to similarities and differences
Atz ME, et al.
Psychiatr Genet 2007 Apr;17(2):55-67

The gene for synapsin III and attention-deficit hyperactivity disorder
Makkar R, et al.
Psychiatr Genet 2007 Apr;17(2):109-12

Connexin50 gene on human chromosome 1q21 is associated with schizophrenia in matched case-control and family- based studies
Ni X, et al.
J Med Genet 2007 Apr

Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction
Vilella E, et al.
J Psychiatr Res 2007 Apr

 

Diseases of the Nervous System and Sense Organs

Functional polymorphisms of the 5-HT1A and 5-HT1B receptor are associated with clinical symptoms in migraineurs
Marziniak M, et al.
J Neural Transm 2007 Apr

The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population
Silva AM, et al.
J Neurol Sci 2007 Apr

MeCP2 gene mutation analysis in autistic boys with developmental regression
Xi CY, et al.
Psychiatr Genet 2007 Apr;17(2):113-6

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
Clark LN, et al.
Mov Disord 2007 Apr

The role of hereditary spastic paraplegia related genes in multiple sclerosis : A study of disease susceptibility and clinical outcome
Deluca GC, et al.
J Neurol 2007 Apr

Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism
Cross S, et al.
Neuropsychopharmacology 2007 Apr

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations
Temudo T, et al.
Neurology 2007 Apr;68(15):1183-7

Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Hudson G, et al.
Arch Neurol 2007 Apr;64(4):553-7

The Association Between Genetic Variants in SORL1 and Alzheimer Disease in an Urban, Multiethnic, Community-Based Cohort
Lee JH, et al.
Arch Neurol 2007 Apr;64(4):501-6

Fas Antigen and Sporadic Alzheimer's Disease in Southern Italy: Evaluation of Two Polymorphisms in the TNFRSF6 Gene
Andreoli V, et al.
Neurochem Res 2007 Apr

Association of a NOS1 promoter repeat with Alzheimer's disease
Galimberti D, et al.
Neurobiol Aging 2007 Apr

 

Diseases of the Circulatory System

Paraoxonase 2 Gene C311S Polymorphism Is Associated with a Risk of Large Vessel Disease Stroke in a Polish Population
Slowik A, et al.
Cerebrovasc Dis 2007 Apr;23(5-6):395-400

Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke: The Atherosclerosis Risk in Communities (ARIC) study
Volcik KA, et al.
Atherosclerosis 2007 Apr

Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients
Kyriakou T, et al.
Hum Mol Genet 2007 Apr

Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the Risk of Venous Thrombosis
van Minkelen R, et al.
Arterioscler Thromb Vasc Biol 2007 Apr

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
Waldmuller S, et al.
Eur J Cardiothorac Surg 2007 Apr

Association of HLA Class II Genes with Idiopathic Pulmonary Arterial Hypertension in Koreans
Yoon SH, et al.
Lung 2007 Apr

Factor V Leiden Does Not Affect Bleeding in Aprotinin Recipients after Cardiopulmonary Bypass
Boehm J, et al.
Anesthesiology 2007 Apr;106(4):681-6

Association of L-selectin gene polymorphism with susceptibility to coronary heart disease
Xia Z, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Apr;24(2):173-6

Tumor necrosis factor-alpha gene and cerebral aneurysms
Fontanella M, et al.
Neurosurgery 2007 Apr;60(4):668-72; discussion 672-3

 

Diseases of the Respiratory System

Study on relationship between polymorphism sites of TIM4 and allergic asthma in the population of Han nationality from Hubei province of China
Xia Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Apr;24(2):213-6

 

Diseases of the Digestive System

Toll-like receptor 4 Asp299Gly polymorphism is associated with an increased risk of pancreatic necrotic infection in acute pancreatitis: a study in the Chinese population
Gao HK, et al.
Pancreas 2007 Apr;34(3):295-8

Seroreactivity to microbial components in Crohn's disease is associated with ileal involvement, noninflammatory disease behavior and NOD2/CARD15 genotype, but not with risk for surgery in a Hungarian cohort of IBD patients
Papp M, et al.
Inflamm Bowel Dis 2007 Apr

 

Diseases of the Genitourinary System

Association of vitamin D receptor (Fok-I) polymorphism with the clinical presentation of calcium urolithiasis
Liu CC, et al.
BJU Int 2007 Apr

(CAG) n polymorphism of androgen receptor gene in idiopathic azoospermic and oligospermic Chinese men
Li ZX, et al.
Zhonghua Nan Ke Xue 2005 May;11(5):335-8, 342

 

Complications of Pregnancy, Childbirth, and the Puerperium

Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy
Cochery-Nouvellon E, et al.
J Thromb Haemost 2007 Apr;5(4):700-7

 

Diseases of the Skin and Subcutaneous Tissue

Filaggrin Null Alleles Are Not Associated with Psoriasis
Zhao Y, et al.
J Invest Dermatol 2007 Apr

 

Diseases of the Musculoskeletal System and Connective Tissue

Distribution of HLA-B27 Subtypes in Ankylosing Spondylitis in an Israeli Population
Alaez C, et al.
Arch Med Res 2007 May;38(4):452-5

Absence of HOXD10 Mutations in Idiopathic Clubfoot and Sporadic Vertical Talus
Gurnett CA, et al.
Clin Orthop Relat Res 2007 Apr

Contribution for new genetic markers of rheumatoid arthritis activity and severity: sequencing of the tumour necrosis factor alpha gene promoter
Fonseca JE, et al.
Arthritis Res Ther 2007 Apr;9(2):R37

Estrogen receptor alpha genotype is associated with a reduced prevalence of radiographic hip osteoarthritis in elderly Caucasian women
Lian K, et al.
Osteoarthritis Cartilage 2007 Apr

Cytochrome p450 polymorphism as a predictor of ovarian toxicity to pulse cyclophosphamide in systemic lupus erythematosus
Singh G, et al.
J Rheumatol 2007 Apr;34(4):731-3

 

Injury and Poisoning

Thymidylate Synthase (TYMS) and Dihydropyrimidine Dehydrogenase (DPYD) Polymorphisms in the Korean Population for Prediction of 5-Fluorouracil-Associated Toxicity
Cho HJ, et al.
Ther Drug Monit 2007 Apr;29(2):190-6

Exposure to ethylene oxide in hospitals: biological monitoring and influence of glutathione s-transferase and epoxide hydrolase polymorphisms
Haufroid V, et al.
Cancer Epidemiol Biomarkers Prev 2007 Apr;16(4):796-802

 

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Page last reviewed: April 12, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics