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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 19, 2007
Volume 19, No. 3

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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

Single nucleotide polymorphisms of cytokine genes in the healthy Slovak population
Javor J, et al.
Int J Immunogenet 2007 Aug;34(4):273-80

Comprehensive Screening of a North American Parkinson's Disease Cohort for LRRK2 Mutation
Johnson J, et al.
Neurodegener Dis 2007 Jul;4(5):386-91

Analysis of Cystic Fibrosis Gene Mutations and Associated Haplotypes in the Croatian Population
Knezevic J, et al.
Genet Test 2007 Jun;11(2):133-8

Germline RET mutations in exons 10 and 11: an Iranian survey of 57 medullary thyroid carcinoma cases
Hedayati M, et al.
Med J Malaysia 2006 Dec;61(5):564-9

 

Infectious and Parasitic Diseases

Polymorphisms in TLR2 Are Associated with Increased Viral Shedding and Lesional Rate in Patients with Genital Herpes Simplex Virus Type 2 Infection
Bochud PY, et al.
J Infect Dis 2007 Aug;196(4):505-9

 

Neoplasms

Genetic polymorphisms in TP53, nonsteroidal anti-inflammatory drugs and the risk of colorectal cancer: evidence for gene-environment interaction?
Tan XL, et al.
Pharmacogenet Genomics 2007 Aug;17(8):639-45

Lifetime History of Tobacco Consumption and K-ras Mutations in Exocrine Pancreatic Cancer
Crous-Bou M, et al.
Pancreas 2007 Aug;35(2):135-41

Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients
Pugh TJ, et al.
BMC Cancer 2007 Jul;7(1):128

Genetic variation of TP53, polycyclic aromatic hydrocarbon-related exposures, and breast cancer risk among women on Long Island, New York
Gaudet MM, et al.
Breast Cancer Res Treat 2007 Jul

Genetic polymorphisms in alcohol metabolism, alcohol intake and the risk of stomach cancer in Warsaw, Poland
Zhang FF, et al.
Int J Cancer 2007 Jul

Genetic polymorphisms of the DNA repair gene and risk of nasopharyngeal carcinoma
Yang ZH, et al.
DNA Cell Biol 2007 Jul;26(7):491-6

Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence
Edvardsen H, et al.
Radiat Oncol 2007 Jul;2(1):25

Genetic Variation in 8q24 Associated with Risk of Colorectal Cancer
Gruber SB, et al.
Cancer Biol Ther 2007 Jul;6(7)

AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A Consortium of Investigators of Modifiers of BRCA1/2 Study
Couch FJ, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jul;16(7):1416-21

Lack of Association between -460 C/T and 936 C/T of the Vascular Endothelial Growth Factor and Angiopoietin-2 Exon 4 G/A Polymorphisms and Ovarian, Cervical, and Endometrial Cancers
Konac E, et al.
DNA Cell Biol 2007 Jul;26(7):453-63

The association between RAD18 Arg302Gln polymorphism and the risk of human non-small-cell lung cancer
Kanzaki H, et al.
J Cancer Res Clin Oncol 2007 Jul

Haplotype of gene Nedd4 binding protein 2 associated with sporadic nasopharyngeal carcinoma in the Southern Chinese population
Zheng MZ, et al.
J Transl Med 2007 Jul;5(1):36

Mitochondrial genetic polymorphisms and pancreatic cancer risk
Wang L, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jul;16(7):1455-9

HLA-A*02 is associated with a reduced risk and HLA-A*01 with an increased risk of developing EBV-positive Hodgkin lymphoma
Niens M, et al.
Blood 2007 Jul

Combinations of cytochrome p450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption
Kury S, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jul;16(7):1460-7

Association of Methylenetetrahydrofolate Reductase Polymorphism and the Risk of Squamous Cell Carcinoma in Renal Transplant Patients
Laing ME, et al.
Transplantation 2007 Jul;84(1):113-6

Hypoxia-inducible factor-1alpha (HIF-1alpha) gene polymorphisms, circulating insulin-like growth factor binding protein (IGFBP)-3 levels and prostate cancer
Li H, et al.
Prostate 2007 Jul;67(12):1354-61

Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations
Rennert G, et al.
N Engl J Med 2007 Jul;357(2):115-23

Glutathione S-transferase M1 and P1 polymorphisms and risk of breast cancer and fibrocystic breast conditions in Chinese women
Sakoda LC, et al.
Breast Cancer Res Treat 2007 Jul

DNA Variation in MSR1, RNASEL and E-Cadherin Genes and Prostate Cancer in Poland
Cybulski C, et al.
Urol Int 2007;79(1):44-9

 

Endocrine, Nutritional and Metabolic Diseases

The Association Between HTR2C Gene Polymorphisms and the Metabolic Syndrome in Patients With Schizophrenia
Mulder H, et al.
J Clin Psychopharmacol 2007 Aug;27(4):338-43

Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals
Qi L, et al.
J Clin Endocrinol Metab 2007 Jul

Analysis of LHX8 mutation in premature ovarian failure
Qin Y, et al.
Fertil Steril 2007 Jul

TGF-beta1 and TSC-22 Gene Polymorphisms and Susceptibility to Microvascular Complications in Type 2 Diabetes
Buraczynska M, et al.
Nephron Physiol 2007 Jul;106(4):p69-p75

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
Hakonarson H, et al.
Nature 2007 Jul

Association analyses of GIP and GIPR polymorphisms with traits of the metabolic syndrome
Nitz I, et al.
Mol Nutr Food Res 2007 Jul

Is the influence of variation in the ACE gene on the prospective risk of type 2 diabetes in middle aged men modified by obesity?
Muthumala A, et al.
Clin Sci (Lond) 2007 Jul

 

Mental Disorders

The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans
Ribeiro L, et al.
Neuroreport 2007 Aug;18(12):1291-3

Variation in a bicarbonate co-transporter gene family member SLC4A7 is associated with propensity to addictions: a study using fine-mapping and three samples
Ishiguro H, et al.
Addiction 2007 Aug;102(8):1320-5

Response to Lithium Augmentation in Depression is Associated with the Glycogen Synthase Kinase 3-Beta -50T/C Single Nucleotide Polymorphism
Adli M, et al.
Biol Psychiatry 2007 Jul

Platelet MAO activity and the 5-HTT gene promoter polymorphism are associated with impulsivity and cognitive style in visual information processing
Paaver M, et al.
Psychopharmacology (Berl) 2007 Jul

Longitudinal Magnetic Resonance Imaging Vascular Changes, Apolipoprotein E Genotype, and Development of Dementia in the Neurocognitive Outcomes of Depression in the Elderly Study
Steffens DC, et al.
Am J Geriatr Psychiatry 2007 Jul

The OPRD1 and OPRK1 loci in alcohol or drug dependence: OPRD1 variation modulates substance dependence risk
Zhang H, et al.
Mol Psychiatry 2007 Jul

Norepinephrine transporter polymorphisms T-182C and G1287A are not associated with alcohol dependence and its clinical subgroups
Huang SY, et al.
Drug Alcohol Depend 2007 Jul

Association between BanI genotype and increased phospholipase A2 activity in schizophrenia
Barbosa NR, et al.
Eur Arch Psychiatry Clin Neurosci 2007 Jul

 

Diseases of the Nervous System and Sense Organs

Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers
Grossman I, et al.
Pharmacogenet Genomics 2007 Aug;17(8):657-66

Study on the Association between SOAT1 Polymorphisms, Alzheimer's Disease Risk and the Level of CSF Biomarkers
Lamsa R, et al.
Dement Geriatr Cogn Disord 2007 Jul;24(2):146-50

HFE variants, APOE and Alzheimer's disease: Findings from the population-based Rotterdam Study
Alizadeh BZ, et al.
Neurobiol Aging 2007 Jul

Clinical Phenotypes Associated with the Complement Factor H Y402H Variant in Age-related Macular Degeneration
Brantley MA, et al.
Am J Ophthalmol 2007 Jul

Presenilin Gene Predisposes to Late-Onset Degenerative but Not Vascular Dementia: A Comparative Study of PS1 and ApoE Genes in a North Indian Cohort
Pandey P, et al.
Dement Geriatr Cogn Disord 2007 Jul;24(3):151-61

Association of the DAO and DAOA gene polymorphisms with autism spectrum disorders in boys in Korea: A preliminary study
Chung S, et al.
Psychiatry Res 2007 Jul

Association study of the paraoxonase 1 gene with the risk of developing Alzheimer's disease
Chapuis J, et al.
Neurobiol Aging 2007 Jul

 

Diseases of the Circulatory System

Xanthine oxidoreductase polymorphisms: influence in blood pressure and oxidative stress levels
Chaves FJ, et al.
Pharmacogenet Genomics 2007 Aug;17(8):589-96

No association of interleukin-6 gene polymorphism (-174 G/C) with premature coronary artery disease in a Turkish cohort
Sekuri C, et al.
Coron Artery Dis 2007 Aug;18(5):333-7

A prospective study of polymorphisms of DNA repair genes XRCC1, XPD23 and APE/ref-1 and risk of stroke in Linxian, China
Mahabir S, et al.
J Epidemiol Community Health 2007 Aug;61(8):737-41

The 242T variant of the CYBA gene polymorphism increases the risk of coronary artery disease associated with cigarette smoking and hypercholesterolemia
Niemiec P, et al.
Coron Artery Dis 2007 Aug;18(5):339-46

Neutrophil elastase gene variation and coronary heart disease
Schonfelder J, et al.
Pharmacogenet Genomics 2007 Aug;17(8):629-37

The endothelial nitric oxide synthase gene -786T/C polymorphism is a predictive factor for reattacks of coronary spasm
Nishijima T, et al.
Pharmacogenet Genomics 2007 Aug;17(8):581-7

Usefulness of the aldosterone synthase gene polymorphism C-344-T to predict cardiac remodeling in african-americans versus non-african-americans with chronic systolic heart failure
Biolo A, et al.
Am J Cardiol 2007 Jul;100(2):285-90

Genetic prothrombotic mutations are common in neonates but are not associated with umbilical catheter-associated thrombosis
Turebylu R, et al.
J Perinatol 2007 Jul

Plasma C-Reactive Protein and 5-Lipoxygenase-Activating Protein Gene Promoter Poly-A Polymorphism in Patients with Coronary Artery Disease
Jeng JR
Cardiology 2007 Jul;109(1):25-32

 

Diseases of the Respiratory System

Association between RANTES functional polymorphisms and tuberculosis in Hong Kong Chinese
Chu SF, et al.
Genes Immun 2007 Jul

 

Diseases of the Digestive System

Manganese superoxide dismutase (Mn-SOD) gene polymorphisms in urolithiasis
Tugcu V, et al.
Urol Res 2007 Jul

Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol
Grunhage F, et al.
Hepatology 2007 Jul

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
Buch S, et al.
Nat Genet 2007 Jul

 

Diseases of the Genitourinary System

Association between PTPN22 and endometriosis
Ammendola M, et al.
Fertil Steril 2007 Jul

Association between apolipoprotein E genetic polymorphism and the development of diabetic nephropathy in type 2 diabetic patients
Kwon MK, et al.
Diabetes Res Clin Pract 2007 Jul

 

Complications of Pregnancy, Childbirth, and the Puerperium

Frequency of selected thrombophilias in women with placental abruption
Prochazka M, et al.
Aust N Z J Obstet Gynaecol 2007 Aug;47(4):297-301

 

Diseases of the Skin and Subcutaneous Tissue

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene
Mendez M, et al.
Br J Dermatol 2007 Jul

 

Diseases of the Musculoskeletal System and Connective Tissue

Association Between the Aggrecan Gene Variable Number of Tandem Repeats Polymorphism and Intervertebral Disc Degeneration
Solovieva S, et al.
Spine 2007 Jul;32(16):1700-5

Melatonin Receptor 1B (MTNR1B) Gene Polymorphism Is Associated With the Occurrence of Adolescent Idiopathic Scoliosis
Qiu XS, et al.
Spine 2007 Jul;32(16):1748-53

 

Congenital Anomalies

VEGF C-634G polymorphism is associated with protection from isolated ventricular septal defect: case-control and TDT studies
Xie J, et al.
Eur J Hum Genet 2007 Jul

A1298C polymorphism of the MTHFR gene and neural tube defects in the state of Yucatan, Mexico
Gonzalez-Herrera L, et al.
Birth Defects Res A Clin Mol Teratol 2007 Jul

 

 

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Page last reviewed: July 19, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics