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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
March 29, 2007
Volume 18, 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

Cytokine gene polymorphisms in the Dutch population
Skorpil N, et al.
Int J Immunogenet 2007 Apr;34(2):87-90

Polymorphism of HLA class I genes in Meizhou Han population of Guangdong, China
Chen S, et al.
Int J Immunogenet 2007 Apr;34(2):131-6

Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population
Ulusoy G, et al.
Arch Toxicol 2007 Mar

Frequency of Mutated Allele CYP2D6*4 in the Turkish Population
Koseler A, et al.
Pharmacology 2007 Mar;79(4):203-6

 

Infectious and Parasitic Diseases

Analysis of the -844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients
Ruiz-Ferrer M, et al.
J Viral Hepat 2007 Apr;14(4):293-4

Functional polymorphisms in the FCN2 gene are not associated with invasive pneumococcal disease
Chapman SJ, et al.
Mol Immunol 2007 Mar

Association analysis of hepatitis virus B infection with haplotypes of the TBX21 gene promoter region in the Chinese population
Cao B, et al.
Clin Chem Lab Med 2007;45(3):333-8

Lack of association between genetic variants in the mannose-binding lectin 2 (MBL2) gene and HPV infection
Parrella P, et al.
Eur J Epidemiol 2007;22(3):159-62

Toll-like receptor (TLR) polymorphisms in African children: common TLR-4 variants predispose to severe malaria
Mockenhaupt FP, et al.
J Commun Dis 2006 Mar;38(3):230-45

 

Neoplasms

Association of vitamin-D receptor (Fok-I) gene polymorphism with bladder cancer in an Indian population
Mittal RD, et al.
BJU Int 2007 Apr;99(4):933-7

Epidermal growth factor receptor polymorphisms and clinical outcomes in non-small-cell lung cancer patients treated with gefitinib
Liu G, et al.
Pharmacogenomics J 2007 Mar

Functional polymorphism of thymidylate synthase, but not of the COMT and IL-1B genes, is associated with breast cancer
Akisik E & Dalay N
J Clin Lab Anal 2007 Mar;21(2):97-102

Increased Risk of Colorectal Adenomas in Italian Subjects Carrying the p53 PIN3 A2-Pro72 Haplotype
Perfumo C, et al.
Digestion 2007 Mar;74(3-4):228-35

Predictive factors associated with prolonged survival in patients with advanced non-small-cell lung cancer (NSCLC) treated with gefitinib
Satouchi M, et al.
Br J Cancer 2007 Mar

New germline mutations in the hypervariable minisatellite CEB1 in the parents of children with leukaemia
Davies BG, et al.
Br J Cancer 2007 Mar

Prevalence and specificity of LKB1 genetic alterations in lung cancers
Matsumoto S, et al.
Oncogene 2007 Mar

The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies
Cox DG, et al.
Cancer Causes Control 2007 Mar

Deletion polymorphism of the UGT2B17 gene is associated with increased risk for prostate cancer and correlated to gene expression in the prostate
Karypidis AH, et al.
Pharmacogenomics J 2007 Mar

HLA-DQB1 polymorphisms and risk for cervical cancer: A case-control study in a southern Chinese population
Chan PK, et al.
Gynecol Oncol 2007 Mar

Association between Common Variation in 120 Candidate Genes and Breast Cancer Risk
Pharoah PD, et al.
PLoS Genet 2007 Mar;3(3):e42

CAPN10 alleles modify laryngeal cancer risk in the Spanish population
Esteban F, et al.
Eur J Surg Oncol 2007 Mar

Polymorphisms in genes regulating androgen activity among prostate cancer low-risk Inuit men and high-risk Scandinavians
Giwercman C, et al.
Int J Androl 2007 Mar

MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer
Raptis S, et al.
J Natl Cancer Inst 2007 Mar;99(6):463-74

Association of HLA Class II Allele and Haplotype Frequencies with Chronic Myelogenous Leukemia and Age-at-Onset of the Disease
Amirzargar AA, et al.
Pathol Oncol Res 2007;13(1):47-51

 

Endocrine, Nutritional and Metabolic Diseases

Relationship of FABP2-A54T polymorphism and the metabolic syndrome in the Romanian Maros county
Csep K, et al.
Orv Hetil 2007 Apr;148(13):597-602

Gene polymorphisms, size at birth, and the development of hypertension and type 2 diabetes
Eriksson JG
J Nutr 2007 Apr;137(4):1063-5

GSTM1, GSTT1, GSTP1, and GSTA1 Polymorphisms and Urinary Isothiocyanate Metabolites following Broccoli Consumption in Humans
Steck SE, et al.
J Nutr 2007 Apr;137(4):904-9

No association of SUMO4 M55V with autoimmune diabetes in Asian-Indian patients
Sedimbi SK, et al.
Int J Immunogenet 2007 Apr;34(2):137-42

UGT1A1 Polymorphism Is Associated with Serum Bilirubin Concentrations in a Randomized, Controlled, Fruit and Vegetable Feeding Trial
Chang JL, et al.
J Nutr 2007 Apr;137(4):890-7

IL-18 gene promoter -137C/G and -607C/A polymorphisms in Chinese Han children with type 1 diabetes mellitus
Dong GP, et al.
Int J Immunogenet 2007 Apr;34(2):75-9

Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotype
Mantaring M, et al.
Transl Res 2007 Apr;149(4):205-10

Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in caucasian females
Zhao J, et al.
Hum Reprod 2007 Mar

Plasma Resistin, Associated with Single Nucleotide Polymorphism -420, is Correlated with Insulin Resistance, Lower HDL, and High Sensitivity CRP in the Japanese General Population
Osawa H, et al.
Diabetes Care 2007 Mar

Association of small ubiquitin-like modifier 4 (SUMO4) variant, located in IDDM5 locus, with type 2 diabetes in the Japanese population
Noso S, et al.
J Clin Endocrinol Metab 2007 Mar

The Type 2 Deiodinase (DIO2) A/G Polymorphism Is Not Associated with Glycemic Traits: The Framingham Heart Study
Maia AL, et al.
Thyroid 2007 Mar;17(3):199-202

Genetic variation in thioredoxin interacting protein (TXNIP) is associated with hypertriglyceridaemia and blood pressure in diabetes mellitus
van Greevenbroek MM, et al.
Diabet Med 2007 Mar

Polymorphisms in the APOA1/C3/A4/A5 gene cluster and cholesterol responsiveness to dietary change
Hubacek JA, et al.
Clin Chem Lab Med 2007;45(3):316-20

 

Diseases of the Blood & Blood-Forming Organ Disorders

Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia
Vannucchi AM, et al.
Blood 2007 Mar

 

Mental Disorders

Opioid Receptor Gene (OPRM1, OPRK1, and OPRD1) Variants and Response to Naltrexone Treatment for Alcohol Dependence: Results From the VA Cooperative Study
Gelernter J, et al.
Alcohol Clin Exp Res 2007 Apr;31(4):555-63

A Large Case-Control Study of Common Functional SLC6A4 and BDNF Variants in Obsessive-Compulsive Disorder
Wendland JR, et al.
Neuropsychopharmacology 2007 Mar

Human Kappa opioid receptor gene (OPRK1) polymorphism is associated with opiate addiction
Gerra G, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Mar

Response to lithium prophylaxis: Interaction between serotonin transporter and BDNF genes
Rybakowski JK, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Mar

The CRHR1 gene: a marker for suicidality in depressed males exposed to low stress
Wasserman D, et al.
Genes Brain Behav 2007 Mar

The risk for depression conferred by stressful life events is modified by variation at the serotonin transporter 5HTTLPR genotype: evidence from the Spanish PREDICT-Gene cohort
Cervilla JA, et al.
Mol Psychiatry 2007 Mar

No evidence for association between 19 cholinergic genes and bipolar disorder
Shi J, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Mar

Major depressive disorder, serotonin transporter, and personality traits: Why patients use suboptimal decision-making strategies?
Must A, et al.
J Affect Disord 2007 Mar

Association analysis of AKT1 and schizophrenia in a UK case control sample
Norton N, et al.
Schizophr Res 2007 Mar

Genetic variation in the dopamine D4 receptor (DRD4) gene and smoking cessation: follow-up of a randomised clinical trial of transdermal nicotine patch
David SP, et al.
Pharmacogenomics J 2007 Mar

 

Diseases of the Nervous System and Sense Organs

COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765G>C with disease risk
Mazzola S, et al.
Int J Immunogenet 2007 Apr;34(2):71-4

The apolipoprotein E epsilon4-allele and antihypertensive treatment are associated with increased risk of cerebral MRI white matter hyperintensities
Hogh P, et al.
Acta Neurol Scand 2007 Apr;115(4):248-53

The G1246A polymorphism in the hypocretin receptor 2 gene is not associated with treatment response in cluster headache
Schurks M, et al.
Cephalalgia 2007 Apr;27(4):363-7

High Density SNP Association Study of a Major Autism Linkage Region on Chromosome 17
Stone JL, et al.
Hum Mol Genet 2007 Mar

Apolipoprotein E Genotypes in Hospitalized Elderly Patients with Vascular Dementia
Orsitto G, et al.
Dement Geriatr Cogn Disord 2007 Mar;23(5):327-33

Combined effects of ACE and MMP-3 polymorphisms on migraine development
Kara I, et al.
Cephalalgia 2007 Mar;27(3):235-43

A polymorphism in SOD2 is associated with development of Alzheimer's disease
Wiener HW, et al.
Genes Brain Behav 2007 Mar

Progranulin mutations and ALS or ALS-FTD phenotypes
Schymick J, et al.
J Neurol Neurosurg Psychiatry 2007 Mar

The Arg194Trp polymorphism in DNA repair gene XRCC1 and the risk for sporadic late-onset Alzheimer's disease
Dogru-Abbasoglu S, et al.
Neurol Sci 2007 Mar;28(1):31-4

A SNP in the ACT gene associated with astrocytosis and rapid cognitive decline in AD
Belbin O, et al.
Neurobiol Aging 2007 Mar

No effect of APOE and PVRL2 on the clinical outcome of multiple sclerosis
Ramagopalan SV, et al.
J Neuroimmunol 2007 Mar

Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease
Morgan AR, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Mar

Association study of cholesterol-related genes in Alzheimer's disease
Wollmer MA, et al.
Neurogenetics 2007 Mar

No association between variations in the WDR36 gene and primary open-angle glaucoma
Fingert JH, et al.
Arch Ophthalmol 2007 Mar;125(3):434-6

Genetic analysis of MAPT haplotype diversity in frontotemporal dementia
Laws SM, et al.
Neurobiol Aging 2007 Mar

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis
Xiao S, et al.
Neurobiol Aging 2007 Mar

Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits
Lee CC, et al.
J Clin Lab Anal 2007 Mar;21(2):67-70

 

Diseases of the Circulatory System

A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems
Bauters C, et al.
Am Heart J 2007 Apr;153(4):641-8

Validation of the Association Between the Gene Encoding Proteasome Subunit alpha Type 6 and Myocardial Infarction in a Japanese Population
Takashima N, et al.
Circ J 2007 Apr;71(4):495-8

Fucosyltransferase 3 polymorphism and atherothrombotic disease in the Framingham Offspring Study
Djousse L, et al.
Am Heart J 2007 Apr;153(4):636-9

A functional Sp1/Egr1-tandem repeat polymorphism in the 5-lipoxygenase gene is not associated with myocardial infarction
Gonzalez P, et al.
Int J Immunogenet 2007 Apr;34(2):127-30

Associations of apolipoprotein E polymorphism with low-density lipoprotein size and subfraction profiles in Arab patients with coronary heart disease
Akanji AO, et al.
Metabolism 2007 Apr;56(4):484-90

Associations of polymorphism of P22(phox) C242T, plasma levels of vitamin E, and smoking with coronary heart disease in China
He MA, et al.
Am Heart J 2007 Apr;153(4):640.e1-6

Alcohol dehydrogenase type 1C (ADH1C) variants, alcohol consumption traits, HDL-cholesterol and risk of coronary heart disease in women and men: British Women's Heart and Health Study and Caerphilly cohorts
Ebrahim S, et al.
Atherosclerosis 2007 Mar

Microsomal epoxide hydrolase genotype and risk of myocardial infarction
Cornelis MC, et al.
Arch Toxicol 2007 Mar

AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients
Fatini C, et al.
Int J Cardiol 2007 Mar

Chemokine receptor 5 (CCR5) deletion polymorphism in North Indian patients with coronary artery disease
Sharda S, et al.
Int J Cardiol 2007 Mar

Alanine to serine polymorphism at position 986 of the calcium-sensing receptor associated with coronary heart disease, myocardial infarction, all-cause and cardiovascular mortality
Marz W, et al.
J Clin Endocrinol Metab 2007 Mar

Association of ALOX5AP with ischemic stroke: a population-based case-control study
Kaushal R, et al.
Hum Genet 2007 Mar

 

Diseases of the Respiratory System

Functional polymorphisms in the transcription factor NRF2 in humans increase the risk of acute lung injury
Marzec JM, et al.
FASEB J 2007 Mar

 

Diseases of the Digestive System

Analysis of common transforming growth factor beta-1 gene polymorphisms in gastric and duodenal ulcer disease: Pilot study
Polonikov AV, et al.
J Gastroenterol Hepatol 2007 Apr;22(4):555-64

The association of the composite IL-1 genotype with periodontitis progression and/or treatment outcomes: a systematic review
Huynh-Ba G, et al.
J Clin Periodontol 2007 Apr;34(4):305-17

N-acetyltransferase 2 slow acetylator genotype associated with adverse effects of sulphasalazine in the treatment of inflammatory bowel disease
Chen M, et al.
Can J Gastroenterol 2007 Mar;21(3):155-8

Genetic evidence that apolipoprotein E4 is not a relevant susceptibility factor for cholelithiasis in two high-risk populations
Mella JG, et al.
J Lipid Res 2007 Mar

Crohn's Disease and SLC11A1 Promoter Polymorphism
Chermesh I, et al.
Dig Dis Sci 2007 Mar

Prevalence of SLC22A4 1672T and SLC22A5 -207C Combination Defined TC Haplotype in Hungarian Ulcerative Colitis Patients
Magyari L, et al.
Pathol Oncol Res 2007;13(1):53-6

 

Diseases of the Genitourinary System

Effect of MDR1 gene polymorphism on progression of end-stage renal disease
Zhang WX, et al.
Acta Pharmacol Sin 2007 Apr;28(4):579-83

Association between Angiotensin-Converting Enzyme Gene Polymorphisms and Diabetic Nephropathy: Case-Control, Haplotype, and Family-Based Study in Three European Populations
Hadjadj S, et al.
J Am Soc Nephrol 2007 Mar

 

Complications of Pregnancy, Childbirth, and the Puerperium

Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes: Risk of placental abruption
Ananth CV, et al.
Mol Genet Metab 2007 Mar

 

Diseases of the Musculoskeletal System and Connective Tissue

Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis
Ye S, et al.
Int J Immunogenet 2007 Apr;34(2):81-5

Association of HLA-DRB1*16 with chronic discoid lupus erythematosus in Mexican mestizo patients
Lopez-Tello A, et al.
Clin Exp Dermatol 2007 Mar

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis
Miyamoto Y, et al.
Nat Genet 2007 Mar

Association of polymorphisms across the tyrosine kinase gene, TYK2 in UK SLE families
Graham DS, et al.
Rheumatology (Oxford) 2007 Mar

 

Certain Conditions Originating in the Perinatal Period

The Relationship in Japanese Infants between a Genetic Polymorphism in the Promoter Region of the Insulin-Like Growth Factor I Gene and the Plasma Level
Kinoshita Y, et al.
Neonatology 2007 Mar;92(2):116-9

 

Injury and Poisoning

Susceptibility to arsenic-induced skin lesions from polymorphisms in base excision repair genes
Breton CV, et al.
Carcinogenesis 2007 Mar

The effect of genetic polymorphisms in the vinyl chloride metabolic pathway on mutagenic risk
Schindler J, et al.
J Hum Genet 2007 Mar

 

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Page last reviewed: March 29, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics