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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
March 22, 2007
Volume 18, No. 12

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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

Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population
Huang HY, et al.
BMC Genet 2007 Mar;8(1):7

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy
Ungaro C, et al.
Neurosci Lett 2007 Mar

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism
McNay DE, et al.
J Clin Endocrinol Metab 2007 Feb;92(2):691-7

 

Infectious and Parasitic Diseases

Genotypes of the mannan-binding lectin gene and susceptibility to visceral leishmaniasis and clinical complications
Alonso DP, et al.
J Infect Dis 2007 Apr;195(8):1212-7

Serum measures of iron status and HFE gene mutations in patients with hepatitis B virus infection
Ghaziani T, et al.
Hepatol Res 2007 Mar;37(3):172-8

The genotypes of GYPA and GYPB carrying the MNSs antigens are not associated with cerebral malaria
Naka I, et al.
J Hum Genet 2007 Mar

Efavirenz Pharmacokinetics in HIV-1-Infected Children Are Associated With CYP2B6-G516T Polymorphism
Saitoh A, et al.
J Acquir Immune Defic Syndr 2007 Mar

Sex- and age-dependent association of SLC11A1 polymorphisms with tuberculosis in Chinese: a case control study
Leung KH, et al.
BMC Infect Dis 2007 Mar;7(1):19

A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients
Vasilescu A, et al.
Proc Natl Acad Sci U S A 2007 Feb;104(9):3354-9

 

Neoplasms

Association of common polymorphisms in inflammatory genes with risk of developing cancers of the upper aerodigestive tract
Campa D, et al.
Cancer Causes Control 2007 May;18(4):449-55

An international case-control study of glutathione transferase and functionally related polymorphisms and risk of primary adult brain tumors
Schwartzbaum JA, et al.
Cancer Epidemiol Biomarkers Prev 2007 Mar;16(3):559-65

Correlations of Single Nucleotide Polymorphisms of DNA Repair Gene XRCC1 to Risk of Colorectal Cancer
Jin MJ, et al.
Ai Zheng 2007 Mar;26(3):274-9

Correlations of XRCC5 Polymorphisms to Genetic Susceptibility to Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma in a High Incidence Region
Dong XJ, et al.
Ai Zheng 2007 Mar;26(3):280-4

Trinucleotide repeat polymorphisms in the androgen receptor gene and risk of ovarian cancer
Schildkraut JM, et al.
Cancer Epidemiol Biomarkers Prev 2007 Mar;16(3):473-80

Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study
Balaguer F, et al.
Clin Gastroenterol Hepatol 2007 Mar;5(3):379-87

Role of S128R polymorphism of E-selectin in colon metastasis formation
Alessandro R, et al.
Int J Cancer 2007 Mar

Epistatic Relationship between the Cancer Susceptibility Genes CHEK2 and p27
Cybulski C, et al.
Cancer Epidemiol Biomarkers Prev 2007 Mar;16(3):572-6

The Common Variant rs1447295 on Chromosome 8q24 and Prostate Cancer Risk: Results from an Australian Population-Based Case-Control Study
Severi G, et al.
Cancer Epidemiol Biomarkers Prev 2007 Mar;16(3):610-2

Polymorphisms of One-carbon Metabolizing Genes and Risk of Breast Cancer in a Population-based Study
Xu X, et al.
Carcinogenesis 2007 Mar

Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma
Jeannot E, et al.
Cancer Res 2007 Mar;67(6):2611-6

Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis
Nieuwenhuis MH, et al.
Clin Gastroenterol Hepatol 2007 Mar;5(3):374-8

Haplotype-Based Analysis of Common Variation in the Acetyl-CoA Carboxylase {alpha} Gene and Breast Cancer Risk: A Case-Control Study Nested within the European Prospective Investigation into Cancer and Nutrition
Sinilnikova OM, et al.
Cancer Epidemiol Biomarkers Prev 2007 Mar;16(3):409-15

Association of IL-1beta gene polymorphism with cachexia from locally advanced gastric cancer
Zhang D, et al.
BMC Cancer 2007 Mar;7(1):45

Polymorphisms in the DNA repair gene XRCC1 associated with basal cell carcinoma and squamous cell carcinoma of the skin in a Korean population
Kang SY, et al.
Cancer Sci 2007 Mar

Polymorphisms in immunoregulatory genes, smoky coal exposure and lung cancer risk in Xuan Wei, China
Lee KM, et al.
Carcinogenesis 2007 Mar

 

Endocrine, Nutritional and Metabolic Diseases

Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs
Brand OJ, et al.
Clin Endocrinol (Oxf) 2007 Apr;66(4):508-12

Common ABCA1 variants, HDL levels and cellular cholesterol efflux in subjects with familial low-HDL
Soro-Paavonen A, et al.
J Lipid Res 2007 Mar

The association between type 2 diabetes mellitus and A1/A2 polymorphism of glycoprotein IIIa gene
Kozieradzka A, et al.
Acta Diabetol 2007 Mar;44(1):30-3

Evidence that Rho Guanine Nucleotide Exchange Factor 11 (ARHGEF11) on 1q21 is a type 2 diabetes susceptibility gene in the Old Order Amish
Fu M, et al.
Diabetes 2007 Mar

The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals
Young EH, et al.
Int J Obes (Lond) 2007 Mar

Polymorphisms of interleukin (IL)-4 receptor alpha and signal transducer and activator of transcription-6 (Stat6) are associated with increased IL-4Ralpha-Stat6 signalling in lymphocytes and elevated serum IgE in patients with Graves' disease
Yabiku K, et al.
Clin Exp Immunol 2007 Mar

Heterozygosity for a Mutation in the Growth Hormone Releasing Hormone Receptor Gene Does Not Influence Adult Stature, But Affects Body Composition
Pereira RM, et al.
J Clin Endocrinol Metab 2007 Mar

The APOB -516C/T polymorphism has no effect on lipid and apolipoprotein response following changes in dietary fat intake in a healthy population
Perez-Martinez P, et al.
Nutr Metab Cardiovasc Dis 2007 Mar;17(3):224-9

 

Mental Disorders

Dopamine D(2) receptor gene polymorphisms predict well the response to dopamine antagonists at therapeutic dosages in patients with schizophrenia
Sakumoto N, et al.
Psychiatry Clin Neurosci 2007 Apr;61(2):174-80

COMPARISON OF THE POLYMORPHISMS OF ANDROGEN RECEPTOR GENE AND ESTROGEN alpha AND beta GENE BETWEEN ADOLESCENT FEMALES WITH FIRST-ONSET MAJOR DEPRESSIVE DISORDER AND CONTROLS
Geng YG, et al.
Int J Neurosci 2007 Apr;117(4):539-47

A Genetic Association Study of Chromosome 11q22-24 in Two Different Samples Implicates the FXYD6 Gene, Encoding Phosphohippolin, in Susceptibility to Schizophrenia
Choudhury K, et al.
Am J Hum Genet 2007 Apr;80(4):664-72

Meta-analysis of COMT val158met in panic disorder: Ethnic heterogeneity and gender specificity
Domschke K, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Mar

Clinical involvement of catechol-O-methyltransferase polymorphisms in schizophrenia spectrum disorders: influence on the severity of psychotic symptoms and on the response to neuroleptic treatment
Molero P, et al.
Pharmacogenomics J 2007 Mar

Increase in GSK3beta gene copy number variation in bipolar disorder
Lachman HM, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Mar

Association between cytochrome P450 (CYP) 2C19 polymorphisms and harm avoidance in Japanese Yasui-Furukori N, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Mar

Association Study between Vesicle-Associated Membrane Protein 2 Gene Polymorphisms and Fluvoxamine Response in Japanese Major Depressive Patients
Saito S, et al.
Neuropsychobiology 2007 Mar;54(4):226-30

Interaction between Childhood Trauma and Serotonin Transporter Gene Variation in Suicide
Roy A, et al.
Neuropsychopharmacology 2007 Mar

No significant association between the genetic polymorphisms in the GSK-3beta gene and schizophrenia in the Chinese population
Meng J, et al.
J Psychiatr Res 2007 Mar

 

Diseases of the Nervous System and Sense Organs

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study
Quarrell OW, et al.
J Med Genet 2007 Mar;44(3):e68

G Protein b3 Polymorphism and Triptan Response in Cluster Headache
Schurks M, et al.
Clin Pharmacol Ther 2007 Mar

Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease
Infante J, et al.
J Neurol Sci 2007 Mar

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change
Acharya M, et al.
BMC Mol Biol 2007 Mar;8(1):21

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment
Samanich J, et al.
Am J Med Genet A 2007 Mar

HSPG2 Gene C/A Polymorphism Does Not Confer Susceptibility to Alzheimer's Disease in Chinese
Wang B, et al.
Dement Geriatr Cogn Disord 2007 Mar;23(5):312-5

 

Diseases of the Circulatory System

Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol
Pare G, et al.
Am J Hum Genet 2007 Apr;80(4):673-82

Triggered C-reactive protein (CRP) concentrations and the CRP gene -717A>G polymorphism in acute stroke or transient ischemic attack
Ben-Assayag E, et al.
Eur J Neurol 2007 Mar;14(3):315-20

CYP3A5 and ABCB1 Genes Influence Blood Pressure and Response to Treatment, and Their Effect Is Modified by Salt
Eap CB, et al.
Hypertension 2007 Mar

Association of polymorphisms in NOS3 with the ankle-brachial index in hypertensive adults
Kullo IJ, et al.
Atherosclerosis 2007 Mar

An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP)
Gu CC, et al.
Hum Genet 2007 Mar

Role of PC-1 and ACE genes on insulin resistance and cardiac mass in never-treated hypertensive patients. Suggestive evidence for a digenic additive modulation
Perticone F, et al.
Nutr Metab Cardiovasc Dis 2007 Mar;17(3):181-7

Common genetic variation in the ATP-binding cassette transporter A1, plasma lipids, and risk of coronary heart disease
Jensen MK, et al.
Atherosclerosis 2007 Mar

Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima-media thickness
Dumont J, et al.
J Med Genet 2007 Mar

 

Diseases of the Respiratory System

Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes
Munthe-Kaas MC, et al.
Allergy 2007 Apr;62(4):429-36

Polymorphisms in eosinophil pathway genes, asthma and atopy
Kabesch M, et al.
Allergy 2007 Apr;62(4):423-8

Physician-diagnosed asthma and acute chest syndrome: Associations with NOS Polymorphisms
Duckworth L, et al.
Pediatr Pulmonol 2007 Mar

Genetic Determinants of Emphysema Distribution in the National Emphysema Treatment Trial
Demeo DL, et al.
Am J Respir Crit Care Med 2007 Mar

Association of Urokinase-type Plasminogen Activator with Asthma and Atopy
Begin P, et al.
Am J Respir Crit Care Med 2007 Mar

 

Diseases of the Digestive System

Polymorphism of the Promoter Region of C-509T of Transforming Growth Factor-Beta1 Gene and Ulcerative Colitis
Tamizifar B, et al.
Arch Iran Med 2007 Apr;10(2):171-5

Haptoglobin Polymorphisms Are Associated with Crohn's Disease, Disease Behavior, and Extraintestinal Manifestations in Hungarian Patients
Papp M, et al.
Dig Dis Sci 2007 Mar

Methylenetetrahydrofolate Reductase C677T Mutation and Nonalcoholic Fatty Liver Disease
Serin E, et al.
Dig Dis Sci 2007 Mar

 

Diseases of the Genitourinary System

Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)
Hinkes BG, et al.
Pediatrics 2007 Mar

Incidence of Donor and Recipient Toll-Like Receptor-4 Polymorphisms in Kidney Transplantation
Nogueira E, et al.
Transplant Proc 2007 Mar;39(2):412-4

 

Complications of Pregnancy, Childbirth, and the Puerperium

Fetal MMP2/MMP9 polymorphisms and intrauterine growth restriction risk
Gremlich S, et al.
J Reprod Immunol 2007 Mar

Role of CYP17 and CYP19 polymorphisms in idiopathic recurrent miscarriages among South Indian women
Suryanaryana VV, et al.
Reprod Biomed Online 2007 Mar;14(3):341-7

 

Diseases of the Skin and Subcutaneous Tissue

Association of toll-interacting protein gene polymorphisms with atopic dermatitis
Schimming TT, et al.
BMC Dermatol 2007 Mar;7(1):3

 

Diseases of the Musculoskeletal System and Connective Tissue

Genetic susceptibility to total hip replacement failure- Preliminary study on the influence of matrix metalloproteinase-1, interleukin-6 and vitamin D receptor polymorphisms
Malik MH, et al.
Ann Rheum Dis 2007 Mar

Vitamin D Receptor 3' Haplotypes are Unequally Expressed in Primary Human Bone Cells and Associated with Increased Fracture Risk: the MrOS Study in Sweden and Hong Kong
Grundberg E, et al.
J Bone Miner Res 2007 Mar

Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus
Wu H, et al.
Proc Natl Acad Sci U S A 2007 Mar;104(10):3961-6

 

 

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Page last reviewed: March 22, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics