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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 21, 2005
Volume 14, No. 16

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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

CYP3A5 genetic polymorphisms in different ethnic populations
Roy JN, et al.
Drug Metab Dispos 2005 Apr

hOGG1 SER326CYS genetic polymorphism in a Turkish population
Karahalil1 B & Kocabas NA
Arch Toxicol 2005 Apr

 

Infectious and Parasitic Diseases

Frequency of interleukin-4 (IL-4) -589 gene polymorphism and vaginal concentrations of IL-4, nitric oxide, and mannose-binding lectin in women with recurrent vulvovaginal candidiasis
Babula O, et al.
Clin Infect Dis 2005 May;40(9):1258-62

Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients
Adinolfi LE, et al.
Hepatology 2005 Apr;41(5):995-1003

 

Neoplasms

Cyp17, urinary sex steroid levels and breast cancer risk in postmenopausal women
Onland-Moret NC , et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):815-20

The race associated allele of semaphorin 3B (SEMA3B) T415I and its role in lung cancer in African-Americans and Latino-Americans
Marsit CJ, et al.
Carcinogenesis 2005 Apr

Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study in Bayesian meta-analysis of diagnostic tests without a gold standard
Chen S, et al.
Biostatistics 2005 Apr

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population
Rasinpera H, et al.
Gut 2005 May;54(5):643-7

Influences of apolipoprotein E polymorphism on the risk for breast cancer and HER2/neu status in Taiwan
Chang NW, et al.
Breast Cancer Res Treat 2005 Apr;90(3):257-61

No association of the matrix metalloproteinase 1 promoter polymorphism with susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma in northern China
Jin X, et al.
World J Gastroenterol 2005 Apr;11(16):2385-9

Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer
Jiang Q, et al.
Cancer Detect Prev 2005;29(2):146-54

Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk
Lee KM, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):821-5

APC Asp1822Val and Gly2502Ser Polymorphisms and Risk of Colorectal Cancer and Adenoma
Tranah GJ, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):863-70

The T393C Polymorphism of the G{alpha}s Gene (GNAS1) Is a Novel Prognostic Marker in Bladder Cancer
Frey UH, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):871-7

Polymorphisms in XPD Exons 10 and 23 and Bladder Cancer Risk
Schabath MB , et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):878-84

No Evidence for BRAF as a Melanoma/Nevus Susceptibility Gene
Jackson S, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):913-8

The MTHFR 1298A>C Polymorphism and Genomic DNA Methylation in Human Lymphocytes
Friso S, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):938-43

Association of Susceptibility Alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with Prostate Cancer Severity in European American and African American Men
Rennert H, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):949-57

Genotyping of patients with sporadic and radiation-associated meningiomas
Sadetzki S, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):969-76

The e211 g>a androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia
Hayes VM, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):993-6

Genetic variants in the vitamin d receptor gene and prostate cancer risk
Hayes VM, et al.
Cancer Epidemiol Biomarkers Prev 2005 Apr;14(4):997-9

Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years A pooled study of lung cancer patients in Denmark and Norway
Skuladottir H, et al.
Lung Cancer 2005 May;48(2):187-99

Analysis of the dinucleotide repeat polymorphism in the epidermal growth factor receptor (EGFR) gene in head and neck cancer patients
Etienne-Grimaldi MC, et al.
Ann Oncol 2005 Apr

Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas
Yang P, et al.
Cancer 2005 Apr

 

Endocrine, Nutritional and Metabolic Diseases

Association of nucleotide variations in the apolipoprotein B48 receptor gene (APOB48R) with hypercholesterolemia
Fujita Y, et al.
J Hum Genet 2005 Apr

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection
Pearson ER, et al.
Diabetologia 2005 Apr

Association between plasma activities of semicarbazide-sensitive amine oxidase and angiotensin-converting enzyme in patients with type 1 diabetes mellitus
Boomsma F, et al.
Diabetologia 2005 Apr

The Lewis blood group-a new genetic marker of obesity
Hein HO, et al.
Int J Obes Relat Metab Disord 2005 May;29(5):540-2

Analysis of mannose-binding lectin 2 (MBL2) genotype and the serum protein levels in the Korean population
Lee SG, et al.
Mol Immunol 2005 May;42(8):969-77

Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers
Castellani C, et al.
Am J Med Genet A 2005 Apr:9999

Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population
Guerardel A, et al.
BMC Genet 2005 Apr;6(1):19

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
Damgaard D, et al.
Atherosclerosis 2005 May;180(1):155-60

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
Maier EM, et al.
Hum Mutat 2005 Apr;25(5):443-52

No association between insulin gene variation and adult metabolic phenotypes in a large Finnish birth cohort
Bennett A, et al.
Diabetologia 2005 Apr

Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample
Weiss LA, et al.
Hum Genet 2005 Apr

Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes
Holmkvist J, et al.
Eur J Hum Genet 2005 Apr

A study of the Hexose-6-Phosphate Dehydrogenase Gene R453Q and 11{beta}-Hydroxysteroid Dehydrogenase Type 1 Gene 83557insA Polymorphisms in the Polycystic Ovary Syndrome
Millan JL, et al.
J Clin Endocrinol Metab 2005 Apr

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity
Biason-Lauber A, et al.
Diabetologia 2005 Apr

 

Mental Disorders

Association between the 5-HT6 receptor C267T polymorphism and response to antidepressant treatment in major depressive disorder
Lee SH, et al.
Psychiatry Clin Neurosci 2005 Apr;59(2):140-5

Association study of 12 polymorphisms spanning the dopamine D(2) receptor gene and clozapine treatment response in two treatment refractory/intolerant populations
Hwang R, et al.
Psychopharmacology (Berl) 2005 Apr

Antipsychotics and dopamine transporter gene polymorphisms in delirium patients
Kim JY, et al.
Psychiatry Clin Neurosci 2005 Apr;59(2):183-8

The SNAP-25 gene may be associated with clinical response and weight gain in antipsychotic treatment of schizophrenia
Muller DJ, et al.
Neurosci Lett 2005 May;379(2):81-9

Association Between Alcoholism and gamma-Amino Butyric Acid alpha2 Receptor Subtype in a Russian Population
Lappalainen J, et al.
Alcohol Clin Exp Res 2005 Apr;29(4):493-8

Lack of association of the COMT (Val(158/108) Met) gene and schizophrenia: a meta-analysis of case-control studies
Munafo MR, et al.
Mol Psychiatry 2005 Apr

Population-based and family-based studies on the serotonin transporter gene polymorphisms and bipolar disorder: a systematic review and meta-analysis
Cho HJ, et al.
Mol Psychiatry 2005 Apr

Role of the serotonin transporter gene and family function in adolescent alcohol consumption
Nilsson KW, et al.
Alcohol Clin Exp Res 2005 Apr;29(4):564-70

Dopamine Transporter Genotype and Methylphenidate Dose Response in Children with ADHD
Stein MA, et al.
Neuropsychopharmacology 2005 Apr

 

Diseases of the Nervous System and Sense Organs

Severity of Guillain-Barre syndrome is associated with Fcgamma Receptor III polymorphisms
van Sorge NM, et al.
J Neuroimmunol 2005 May;162(1-2):157-64

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration
Zareparsi S, et al.
Hum Mol Genet 2005 Apr

Homocysteine and related genetic polymorphisms in Down's syndrome IQ
Gueant JL, et al.
J Neurol Neurosurg Psychiatry 2005 May;76(5):706-9

MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration
Fiotti N, et al.
Genet Med 2005 Apr;7(4):272-7

Early-onset Parkinson's disease in a Chinese population: (99m)Tc-TRODAT-1 SPECT, Parkin gene analysis and clinical study
Shyu WC, et al.
Parkinsonism Relat Disord 2005 May;11(3):173-80

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population
Snoeckx RL, et al.
Am J Med Genet A 2005 Apr

Heat Shock Protein 70 and Tumor Necrosis Factor Alpha in Taiwanese Patients with Dementia
Fung HC, et al.
Dement Geriatr Cogn Disord 2005 Apr;20(1):1-7

Evaluating Associations between 5-HTTLPR Polymorphism and Alzheimer's Disease for Korean Patients
Ha TM, et al.
Dement Geriatr Cogn Disord 2005 Apr;20(1):31-4

Association between Angiotensin-Converting Enzyme Gene Polymorphism and Alzheimer's Disease in a Chinese Population
Zhang JW, et al.
Dement Geriatr Cogn Disord 2005 Apr;20(1):52-6

Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson's disease
Nishimura M, et al.
Mov Disord 2005 Apr

Association of C825T polymorphism of G protein beta3 subunit with the autonomic nervous system in young healthy Japanese individuals
Matsunaga T, et al.
Am J Hypertens 2005 Apr;18(4):523-9

 

Diseases of the Circulatory System

APOE influences vasospasm and cognition of noncomatose patients with subarachnoid hemorrhage
Lanterna LA, et al.
Neurology 2005 Apr;64(7):1238-44

Genetic predictors of coronary heart disease risk factors in premenopausal African-American women
Giger JN, et al.
Ethn Dis 2005 Spring;15(2):221-32

Detection of 677CT/1298AC "double variant" chromosomes: Implications for interpretation of MTHFR genotyping results
Brown NM , et al.
Genet Med 2005 Apr;7(4):278-82

Association of a polymorphism of the transforming growth factor-{beta}1 gene with cerebral amyloid angiopathy
Hamaguchi T, et al.
J Neurol Neurosurg Psychiatry 2005 May;76(5):696-9

Endothelial nitric oxide synthase intron 4 polymorphism is a marker for coronary artery disease in African-American and Caucasian men
Rao S, et al.
Ethn Dis 2005 Spring;15(2):191-7

Matrix metalloproteinase3 and 9 gene promoter polymorphisms: joint action of two loci as a risk factor for coronary artery complicated plaques
Pollanen PJ, et al.
Atherosclerosis 2005 May;180(1):73-8

Association of interleukin-6 gene G-174C polymorphism and plasma plasminogen activator inhibitor-1 level in Chinese patients with and without hypertension
Jeng JR, et al.
Am J Hypertens 2005 Apr;18(4):517-22

The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation
Kallianpur AR , et al.
Bone Marrow Transplant 2005 Apr

Apolipoprotein A-I/C-III/A-IV SstI and apolipoprotein B XbaI polymorphisms and their association with carotid artery intima-media thickness in the Finnish population The Cardiovascular Risk in Young Finns Study
Islam MS, et al.
Atherosclerosis 2005 May;180(1):79-86

Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study
Koeijvoets KC, et al.
Atherosclerosis 2005 May;180(1):93-9

 

Diseases of the Respiratory System

Variants of the natural resistance-associated macrophage protein 1 gene (NRAMP1) are associated with severe forms of pulmonary tuberculosis
Zhang W, et al.
Clin Infect Dis 2005 May;40(9):1232-6

 

Diseases of the Digestive System

Might there be a link between mannose-binding lectin polymorphism and dental caries?
Pehlivan S, et al.
Mol Immunol 2005 May;42(9):1125-7

 

Diseases of the Genitourinary System

Angiotensin-I converting enzyme insertion/deletion polymorphism and its association with diabetic nephropathy: a meta-analysis of studies reported between 1994 and 2004 and comprising 14,727 subjects
Ng DP, et al.
Diabetologia 2005 Apr

 

Diseases of the Musculoskeletal System and Connective Tissue

The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms
Tahara M, et al.
Spine 2005 Apr;30(8):877-80

Association between single nucleotide polymorphisms of estrogen receptor {alpha} gene and efficacy of HRT on bone mineral density in post-menopausal Japanese women
Yahata T, et al.
Hum Reprod 2005 Apr

The relation of the Xbal and Pvull polymorphisms of the estrogen receptor gene and the CAG repeat polymorphism of the androgen receptor gene to peak bone mass and bone turnover rate among young healthy men
Valimaki VV, et al.
Osteoporos Int 2005 Apr

Functional Analysis of the Single Nucleotide Polymorphism (787T>C) in the Tissue-Nonspecific Alkaline Phosphatase Gene Associated With BMD
Goseki-Sone M, et al.
J Bone Miner Res 2005 May;20(5):773-82

 

Congenital Anomalies

Fragile X syndrome carrier screening in the prenatal genetic counseling setting
Cronister A, et al.
Genet Med 2005 Apr;7(4):246-50

 

Certain Conditions Originating in the Perinatal Period

Thrombophilic Polymorphisms and Intrauterine Growth Restriction
Infante-Rivard C, et al.
Epidemiology 2005 May;16(3):281-7

 

Symptoms, Signs, and Ill-defined Conditions

Influence of CYP2C9 polymorphisms, demographic factors and concomitant drug therapy on warfarin metabolism and maintenance dose
Herman D, et al.
Pharmacogenomics J 2005 Apr

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: October 12, 2007
Content Source: CDC's Office of Public Health Genomics