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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 26, 2006
Volume 17, No. 17

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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

Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder-Haplotype Analysis
Yuasa I, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):802-11

Immunoglobulin Enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker
Giambra V, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):946-50

 

Infectious and Parasitic Diseases

Interleukin-10 -1082 GG polymorphism influences the occurrence and the clinical characteristics of hepatitis C virus infection
Persico M, et al.
J Hepatol 2006 Sep

           

Antibody Prevalence and Titer to Norovirus (Genogroup II) Correlate with Secretor (FUT2) but Not with ABO Phenotype or Lewis (FUT3) Genotype
            Larsson MM, et al.
J Infect Dis 2006 Nov;194(10):1422-7

           

Polymorphisms at exon 4 of p53 and the susceptibility to herpesvirus types 6 and 1 infection in renal transplant recipients
Leite JL, et al.
Transpl Int 2006 Sep;19(9):732-7

Interleukin-18 Promoter Polymorphisms in Patients With Behcet's Disease
Lee YJ, et al.
Hum Immunol 2006 Oct;67(10):812-8

Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study
Vollmert C, et al.
J Med Genet 2006 Oct;43(10):e53

HLA-G DNA sequence variants and risk of perinatal HIV-1 transmission
Aikhionbare FO, et al.
AIDS Res Ther 2006 Oct;3(1):28

Associations of tumour necrosis factor alpha promoter polymorphisms at position -308 and -238 with clinical characteristics of chronic hepatitis C
Dai CY, et al.
J Viral Hepat 2006 Nov;13(11):770-4

 

Neoplasms

Risk factors differ for non-small-cell lung cancers with and without EGFR mutation: assessment of smoking and sex by a case-control study in Japanese
Matsuo K, et al.
Cancer Sci 2006 Oct

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL
Goldstein AM, et al.
Cancer Res 2006 Oct;66(20):9818-28

Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders
Speletas M, et al.
Leuk Res 2006 Oct

Mitochondrial DNA D-loop in pancreatic cancer: somatic mutations are epiphenomena while the germline 16519 T variant worsens metabolism and outcome
Navaglia F, et al.
Am J Clin Pathol 2006 Oct;126(4):593-601

Lymphotoxin-alpha polymorphisms and the risk of endometrial cancer in Japanese subjects
Niwa Y, et al.
Gynecol Oncol 2006 Oct

Ornithine decarboxylase polymorphism modification of response to aspirin treatment for colorectal adenoma prevention
Barry EL, et al.
J Natl Cancer Inst 2006 Oct;98(20):1494-500

Common Variants in RB1 Gene and Risk of Invasive Ovarian Cancer
Song H, et al.
Cancer Res 2006 Oct;66(20):10220-6

No association of the NFKB1 insertion/deletion promoter polymorphism with survival in colorectal and renal cell carcinoma as well as disease progression in B-cell chronic lymphocytic leukemia
Riemann K, et al.
Pharmacogenet Genomics 2006 Nov;16(11):783-8

A haplotype of the methylenetetrahydrofolate reductase gene predicts poor tumor response in rectal cancer patients receiving preoperative chemoradiation
Terrazzino S, et al.
Pharmacogenet Genomics 2006 Nov;16(11):817-24

Meta- and Pooled Analyses of the Cytochrome P-450 1B1 Val432Leu Polymorphism and Breast Cancer: A HuGE-GSEC Review
Paracchini V, et al.
Am J Epidemiol 2006 Oct

Genotypes, haplotypes, and diplotypes of XPC and risk of bladder cancer
Zhu Y, et al.
Carcinogenesis 2006 Oct

Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review
Bonadona V, et al.
Breast Cancer Res Treat 2006 Oct

Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations
Banerjee M, et al.
Carcinogenesis 2006 Oct

Elevated risk of squamous-cell carcinoma of the lung in heavy smokers carrying the variant alleles of the TP53 Arg72Pro and p21 Ser31Arg polymorphisms
Popanda O, et al.
Lung Cancer 2006 Oct

Genetic variation in IGF1, IGFBP3, IRS1, IRS2 and risk of breast cancer in women living in Southwestern United States
Slattery ML, et al.
Breast Cancer Res Treat 2006 Oct

 

Endocrine, Nutritional and Metabolic Diseases

Interleukin-10 promoter polymorphisms in male and female fertility and fecundity
van Dunne FM, et al.
Genes Immun 2006 Oct

Gestational age correlates to genotype in girls with CYP21 deficiency
Gidlof S, et al.
J Clin Endocrinol Metab 2006 Oct

Polymorphisms of TGF-beta1 in cystic fibrosis patients
Brazova J, et al.
Clin Immunol 2006 Oct

Association of Graves' disease and Graves' ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene
Zhang Q, et al.
J Zhejiang Univ Sci B 2006 Nov;7(11):887-91

Association of the PTPN22/LYP gene with type 1 diabetes
Steck AK, et al.
Pediatr Diabetes 2006 Oct;7(5):274-8

Tumor necrosis factor-alpha gene promoter polymorphism in patients with familial Mediterranean fever
Celebi Kobak A, et al.
Clin Rheumatol 2006 Oct

 

Diseases of the Blood & Blood-Forming Organ Disorders

Association of warfarin dose with genes involved in its action and metabolism
Wadelius M, et al.
Hum Genet 2006 Oct

Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients
Kimura R, et al.
Thromb Res 2006 Oct

 

Mental Disorders

Association evidence of schizophrenia with distal genomic region of NOTCH4 in Taiwanese families
Liu CM, et al.
Genes Brain Behav 2006 Oct

           

Is the serotonin transporter polymorphism (5-HTTLPR) associated with harm avoidance and internalising problems in childhood and adolescence?
Becker K, et al.
J Neural Transm 2006 Oct

No association between Ala9Val functional polymorphism of MnSOD gene and schizophrenia in a representative Italian sample
Ventriglia M, et al.
Neurosci Lett 2006 Oct

Polymorphisms of the ABCB1 gene are associated with the therapeutic response to risperidone in Chinese schizophrenia patients
Xing Q, et al.
Pharmacogenomics 2006 Oct;7(7):987-93

Significant Support for DAO as a Schizophrenia Susceptibility Locus: Examination of Five Genes Putatively Associated with Schizophrenia
Wood LS, et al.
Biol Psychiatry 2006 Oct

 

Diseases of the Nervous System and Sense Organs

PPAR-gamma Pro12Ala genotype and risk of cognitive decline in elders
Yaffe K, et al.
Neurobiol Aging 2006 Oct

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease
Clark LN, et al.
Neurology 2006 Oct

Analysis of single nucleotide polymorphisms at 13 loci within the transforming growth factor-induced factor gene shows no association with high myopia in Japanese subjects
Hasumi Y, et al.
Immunogenetics 2006 Oct

Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations: J and W Haplogroups as High-Risk Factors
Shafa Shariat Panahi M, et al.
Arch Med Res 2006 Nov;37(8):1028-33

A genetic variant that disrupts MET transcription is associated with autism
Campbell DB, et al.
Proc Natl Acad Sci U S A 2006 Oct

No Association of Single Nucleotide Polymorphisms in the mu-Opioid Receptor Subunit Gene with Idiopathic Generalized Epilepsy
Barratt C, et al.
Epilepsia 2006 Oct;47(10):1728-31

Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients
Punia S, et al.
Neurosci Lett 2006 Oct

Effect of butyrylcholinesterase genotype on the response to rivastigmine or donepezil in younger patients with Alzheimer's disease
Blesa R, et al.
Pharmacogenet Genomics 2006 Nov;16(11):771-4

Prevalence of haemochromatosis (HFE) gene mutations in Parkinson's disease
Aamodt AH, et al.
J Neurol Neurosurg Psychiatry 2006 Oct

HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration
Dewan A, et al.
Science 2006 Oct

A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration
Yang Z, et al.
Science 2006 Oct

Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration
Baird PN, et al.
Invest Ophthalmol Vis Sci 2006 Oct;47(10):4194-8

Association between the polymorphism in the promoter region of dopamine D4 receptor gene and chronic tic disorder
Lu Y, et al.
Zhongguo Dang Dai Er Ke Za Zhi 2006 Oct;8(5):357-60

Iron genes, iron load and risk of Alzheimer's disease
Lehmann DJ, et al.
J Med Genet 2006 Oct;43(10):e52

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
Fung HC, et al.
Lancet Neurol 2006 Nov;5(11):911-6

Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study
Elbaz A, et al.
Lancet Neurol 2006 Nov;5(11):917-23

 

Diseases of the Circulatory System

Coagulation factor VII gene haplotypes, obesity-related traits, and cardiovascular risk in young women
Reiner AP, et al.
J Thromb Haemost 2006 Oct

The Effects of Three Factor VII Polymorphisms on Factor VII Coagulant Levels in Healthy Singaporean Chinese, Malay and Indian Newborns
Quek SC, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):951-7

The association of prothrombin A19911G polymorphism with plasma prothrombin activity and venous thrombosis: Results of the MEGA study, a large population-based case-control study
Chinthammitr Y, et al.
J Thromb Haemost 2006 Oct

Lower Prevalence of the OCT2 Ser270 Allele in Patients with Essential Hypertension*
Lazar A, et al.
Clin Exp Hypertens 2006 Oct;28(7):645-53

Lectin-like oxidized-LDL receptor-1 (LOX-1) polymorphisms influence cardiovascular events rate during statin treatment
Puccetti L, et al.
Int J Cardiol 2006 Oct

G-Protein beta3 Subunit Variant C825T is a Risk Factor for Hypertension in Japanese Females -A Prospective Cohort Study Over 5 Years
Suwazono Y, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):767-77

The A370T Variant (StuI Polymorphism) in the LDL Receptor Gene is not Associated with Plasma Lipid Levels or Cardiovascular Risk in UK Men
Vieira JR, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):697-704

G-Protein beta-3 Subunit C825T Polymorphism, Sodium and Arterial Blood Pressure: A Community-Based Study of Japanese Men and Women
Yamagishi K, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):759-66

The impact on coronary artery disease of common polymorphisms known to modulate responses to pathogens
O'halloran AM, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):934-45

Influence of the CD14 C260T Promoter Polymorphism on C-Reactive Protein Levels in Patients With Coronary Artery Disease
Bernardo E, et al.
Am J Cardiol 2006 Nov;98(9):1182-4

Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia
Suk Danik J, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):705-16

Interaction between CYP1A1 T3801C and AHR G1661A polymorphisms according to smoking status on blood pressure in the Stanislas cohort
Gambier N, et al.
J Hypertens 2006 Nov;24(11):2199-205

Association study of g protein-coupled receptor kinase 4 gene variants with essential hypertension in northern han chinese
Wang Y, et al.
Ann Hum Genet 2006 Nov;70(Pt 6):778-83

 

Diseases of the Respiratory System

ADAM33 polymorphisms are associated with aspirin-intolerant asthma in the Japanese population
Sakagami T, et al.
J Hum Genet 2006 Oct

Sequence variations in the MBL gene and their relationship to pulmonary tuberculosis in the Chinese Han population
Liu W, et al.
Int J Tuberc Lung Dis 2006 Oct;10(10):1098-103

 

Diseases of the Digestive System

Association of interleukin-1beta polymorphism with recurrent aphthous stomatitis in Brazilian individuals
Guimaraes A, et al.
Oral Dis 2006 Nov;12(6):580-3

[Influence of CYP2C19 polymorphism and Helicobacter pylori status on the antisecretory effect of omeprazole in gastroesophageal reflux disease]
Sohn YH, et al.
Korean J Gastroenterol 2006 Sep;48(3):162-71

Investigation of functional gene polymorphisms IL-1beta, IL-6, IL-10 and TNF-alpha in individuals with recurrent aphthous stomatitis
Guimaraes AL, et al.
Arch Oral Biol 2006 Oct

Analysis of linkage between lymphotoxin alpha haplotype and polymorphisms in 5'-flanking region of tumor necrosis factor alpha gene associated with efficacy of infliximab for Crohn's disease patients
Ozeki T, et al.
Mutat Res 2006 Oct

Angiotensinogen and transforming growth factor beta1: novel genes in the pathogenesis of Crohn's disease
Hume GE, et al.
J Med Genet 2006 Oct;43(10):e51

 

Diseases of the Genitourinary System

Influence of CYP3A5 genetic polymorphism on cyclosporine A metabolism and elimination in Chinese renal transplant recipients
Chu XM, et al.
Acta Pharmacol Sin 2006 Nov;27(11):1504-8

CYP3A5 and ABCB1 Polymorphisms and Tacrolimus Pharmacokinetics in Renal Transplant Candidates: Guidelines from an Experimental Study
Haufroid V, et al.
Am J Transplant 2006 Nov;6(11):2706-13

Multidrug Resistance Protein 2 Genetic Polymorphisms Influence Mycophenolic Acid Exposure in Renal Allograft Recipients
Naesens M, et al.
Transplantation 2006 Oct;82(8):1074-84

 

Complications of Pregnancy, Childbirth, and the Puerperium

Polymorphisms of insulin receptor substrate 1 and beta(3)-adrenergic receptor genes in gestational diabetes and normal pregnancy
Fallucca F, et al.
Metabolism 2006 Nov;55(11):1451-6

 

Diseases of the Skin and Subcutaneous Tissue

Autoimmune diseases and vitamin D receptor Apa-I polymorphism are associated with vitiligo in a small inbred Romanian community
Birlea S, et al.
Acta Derm Venereol 2006;86(3):209-14

 

Diseases of the Musculoskeletal System and Connective Tissue

The Human Calcium-Sensing Receptor and Interleukin-6 Genes are Associated with Bone Mineral Density in Chinese
Wang YB, et al.
Yi Chuan Xue Bao 2006 Oct;33(10):870-80

Tumor Necrosis Factor-alpha Promoter Polymorphisms in Mexican Patients With Spondyloarthritis
Vargas-Alarcon G, et al.
Hum Immunol 2006 Oct;67(10):826-32

Large-Scale Population based Study shows no Association between Common Polymorphisms of the Transforming Growth Factor-Beta 1 Gene and BMD in Women
McGuigan FE, et al.
J Bone Miner Res 2006 Oct

 

Congenital Anomalies

Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis
Torfs CP, et al.
Birth Defects Res A Clin Mol Teratol 2006 Oct;76(10):723-30

 

Certain Conditions Originating in the Perinatal Period

Functional maternal catechol-O-methyltransferase polymorphism and fetal growth restriction
Sata F, et al.
Pharmacogenet Genomics 2006 Nov;16(11):775-81

 

Symptoms, Signs and Ill-defined Conditions

IL6 G-174C Associated With Sudden Infant Death Syndrome in a Caucasian Australian Cohort
Moscovis SM, et al.
Hum Immunol 2006 Oct;67(10):819-25

 

Injury and Poisoning

A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans
Carpen JD, et al.
J Hum Genet 2006 Oct

Methylenetetrahydrofolate reductase C677T and A1298C variants do not affect ongoing pregnancy rates following IVF
Dobson AT, et al.
Hum Reprod 2006 Oct

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
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