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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
March 9, 2006
Volume 16, No. 10

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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

Prevalence of CYP2B6 alleles in malaria-endemic populations of West Africa and Papua New Guinea
Mehlotra RK, et al.
Eur J Clin Pharmacol 2006 Feb

The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis
Percy MJ, et al.
Haematologica 2006 Feb

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: Pathogenetic and clinical implications
D'Osualdo A, et al.
Arthritis Rheum 2006 Mar;54(3):998-1008

 

Infectious and Parasitic Diseases

A nonsense mutation (428G-->A) in the fucosyltransferase FUT2 gene affects the progression of HIV-1 infection
Kindberg E, et al.
AIDS 2006 Mar;20(5):685-9

Polymorphisms in the interleukin-1 gene cluster in children and young adults with systemic meningococcemia
Endler G, et al.
Clin Chem 2006 Mar;52(3):511-4

HLA-DQB1 locus and gastric cancer in Helicobacter pylori infection
Watanabe Y, et al.
J Gastroenterol Hepatol 2006 Feb;21(2):420-4

 

Neoplasms

Relationship between epidermal growth factor receptor gene mutations and the severity of adverse events by gefitinib in patients with advanced non-small cell lung cancer
Fujiwara Y, et al.
Lung Cancer 2006 Feb

Glutathione S-transferase T1 status and gastric cancer risk: a meta-analysis of the literature
Boccia S, et al.
Mutagenesis 2006 Mar

Polymorphisms of DNA repair genes are associated with renal cell carcinoma
Hirata H, et al.
Biochem Biophys Res Commun 2006 Feb

The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer
Bilbao C, et al.
Int J Cancer 2006 Feb

XRCC1 Genotype and Breast Cancer: Functional Studies and Epidemiologic Data Show Interactions between XRCC1 Codon 280 His and Smoking
Pachkowski BF, et al.
Cancer Res 2006 Mar;66(5):2860-8

Genetic variation in the COX-2 gene and the association with prostate cancer risk
Shahedi K, et al.
Int J Cancer 2006 Feb

Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia
Monzo M, et al.
Blood 2006 Feb

Association of platelet glycoprotein Ia polymorphism with minor increase of risk for oral cancer
Vairaktaris E, et al.
Eur J Surg Oncol 2006 Feb

Caspase recruitment domain-containing protein 15 mutations in patients with colorectal cancer
Roberts RL, et al.
Cancer Res 2006 Mar;66(5):2532-5

Peroxisome proliferator-activated receptor (PPAR) {gamma} gene polymorphisms and colorectal cancer risk among Chinese in Singapore
Koh WP, et al.
Carcinogenesis 2006 Mar

Fas gene promoter -670 polymorphism in gynecological cancer
Ueda M, et al.
Int J Gynecol Cancer 2006 Jan-2006 Feb;16 Suppl 1:179-82

Use of Cigarette Smoking History to Estimate the Likelihood of Mutations in Epidermal Growth Factor Receptor Gene Exons 19 and 21 in Lung Adenocarcinomas
Pham D, et al.
J Clin Oncol 2006 Feb

Polymorphisms of the Human NRAMP1 Gene are Associated With Response to Bacillus Calmette-Guerin Immunotherapy for Superficial Bladder Cancer
Decobert M, et al.
J Urol 2006 Apr;175(4):1506-11

CYP17 genetic polymorphism in patients with endometrial hyperplasia and cancer
Aban M, et al.
Int J Gynecol Cancer 2006 Jan-2006 Feb;16 Suppl 1:448-51

Five Glutathione S-Transferase Gene Variants in 23,452 Cases of Lung Cancer and 30,397 Controls: Meta-Analysis of 130 Studies
Ye Z, et al.
PLoS Med 2006 Mar;3(4):e91

CAG repeat length in exon 1 of the androgen receptor gene is related to age of diagnosis but not germ line BRCA1 mutation status in ovarian cancer
Kim SC, et al.
Int J Gynecol Cancer 2006 Jan-2006 Feb;16 Suppl 1:190-4

Leptin and leptin receptor polymorphisms are associated with increased risk and poor prognosis of breast carcinoma
Snoussi K, et al.
BMC Cancer 2006 Feb;6(1):38

HFEH63D mutation frequency shows an increase in Turkish women with breast cancer
Gunel-Ozcan A, et al.
BMC Cancer 2006 Feb;6(1):37

 

Endocrine, Nutritional and Metabolic Diseases

Effect of CD14 -260C>T polymorphism on the mortality of critically ill patients
D'Avila LC, et al.
Immunol Cell Biol 2006 Feb

Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes
Morris GA, et al.
BMC Genet 2006 Feb;7(1):12

Association of Amino Acid Variants in the Activating Transcription Factor 6 Gene (ATF6) on 1q21-q23 With Type 2 Diabetes in Pima Indians
Thameem F, et al.
Diabetes 2006 Mar;55(3):839-42

Susceptibility to Type 1 Diabetes Is Associated With ApoCIII Gene Haplotypes
Hokanson JE, et al.
Diabetes 2006 Mar;55(3):834-8

Variation in the adiponutrin gene influences its expression and associates with obesity
Johansson LE, et al.
Diabetes 2006 Mar;55(3):826-33

Genetic Analysis of ADIPOR1 and ADIPOR2 Candidate Polymorphisms for Type 2 Diabetes in the Caucasian Population
Vaxillaire M, et al.
Diabetes 2006 Mar;55(3):856-61

Manganese superoxide dismutase polymorphism affects the oxidized low density lipoprotein-induced apoptosis of macrophages and coronary artery disease
Fujimoto H, et al.
J Cardiol 2006 Feb;47(2):110-3

Haplotype Structures and Large-Scale Association Testing of the 5' AMP-Activated Protein Kinase Genes PRKAA2, PRKAB1, and PRKAB1 With Type 2 Diabetes
Sun MW, et al.
Diabetes 2006 Mar;55(3):849-55

The HLA 8.1 ancestral haplotype is strongly linked to the C allele of -429T>C promoter polymorphism of receptor of the advanced glycation endproduct (RAGE) gene. Haplotype-independent association of the -429C allele with high hemoglobin(A1C) levels in dia
Laki J, et al.
Mol Immunol 2006 Feb

 

Diseases of the Blood and Blood-Forming Organs Disorders

Sequence variation in the 5' untranslated region of the human A4GALT gene is associated with, but does not define, the P1 blood-group polymorphism
Tilley L, et al.
Vox Sang 2006 Apr;90(3):198-203

 

Mental Disorders

Association Between the CCR5 32-bp Deletion Allele and Late Onset of Schizophrenia
Rasmussen HB, et al.
Am J Psychiatry 2006 Mar;163(3):507-11

Serotonin transporter polymorphisms and side effects in antidepressant therapy - a pilot study
Popp J, et al.
Pharmacogenomics 2006 Mar;7(2):159-66

The serotonin transporter promoter polymorphism and suicide
Helbecque N, et al.
Neurosci Lett 2006 Feb

Dysbindin genotype and negative symptoms in schizophrenia
Derosse P, et al.
Am J Psychiatry 2006 Mar;163(3):532-4

Analysis of Synapsin III -196 Promoter Mutation in Schizophrenia and Bipolar Disorder
Lachman HM, et al.
Neuropsychobiology 2006 Feb;53(2):57-62

Melanocortin 4 Receptor Mutations in a Large Cohort of Severely Obese Adults: Prevalence, Functional Classification, Genotype-Phenotype Relationship and Lack of Association with Binge Eating
Lubrano-Berthelier C, et al.
J Clin Endocrinol Metab 2006 Feb

Failure to confirm genetic association between schizophrenia and markers on chromosome 1q23.3 in the region of the gene encoding the regulator of G-protein signaling 4 protein (RGS4)
Rizig MA, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Feb

Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population
Washizuka S, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Feb

DRD2 Promoter Region Variation as a Predictor of Sustained Response to Antipsychotic Medication in First-Episode Schizophrenia Patients
Lencz T, et al.
Am J Psychiatry 2006 Mar;163(3):529-31

The C(-1019)G 5-HT1A promoter polymorphism and personality traits: no evidence for significant association in alcoholic patients
Koller G, et al.
Behav Brain Funct 2006 Feb;2(1):7

Evidence that variation in the peripheral benzodiazepine receptor (PBR) gene influences susceptibility to panic disorder
Nakamura K, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Mar

Association between chromogranin A gene polymorphism and schizophrenia in the Japanese population
Takahashi N, et al.
Schizophr Res 2006 Feb

Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia
Mansour HA, et al.
Genes Brain Behav 2006 Mar;5(2):150-7

A comprehensive genetic association and functional study of TNF in schizophrenia risk
Shirts BH, et al.
Schizophr Res 2006 Feb

 

Diseases of the Nervous System and Sense Organs

Positive Association Between POU1F1 and Mental Retardation in Young Females in the Chinese Han Population
Sun Y, et al.
Hum Mol Genet 2006 Feb

Association between 4G/5G polymorphism of the plasminogen activator inhibitor 1 gene with stroke or encephalopathy after cardiac surgery
Sirgo G, et al.
Intensive Care Med 2006 Mar

Haplotype-based systematic association studies of ATP1A2 in migraine with aura
Netzer C, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Feb

Genetic variation in the myeloperoxidase gene and cognitive impairment in multiple sclerosis
Manna I, et al.
J Negat Results Biomed 2006 Feb;5(1):3

Association study of the Ubiquilin gene with Alzheimer's disease
Bensemain F, et al.
Neurobiol Dis 2006 Feb

Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
Fung HC, et al.
Mov Disord 2006 Mar

No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility
Colson NJ, et al.
BMC Med Genet 2006 Feb;7(1):12

Tumor necrosis factor-alpha-308A/G polymorphism is associated with age at onset of Alzheimer's disease
Lio D, et al.
Mech Ageing Dev 2006 Mar

Association of BRD2 polymorphisms with photoparoxysmal response
Lorenz S, et al.
Neurosci Lett 2006 Mar

Antipsychotic-induced tardive dyskinesia and the Ser9Gly polymorphism in the DRD3 gene: A meta analysis
Bakker PR, et al.
Schizophr Res 2006 Feb

 

Diseases of the Circulatory System

Variations in the alpha(2A)-adrenergic receptor gene and their functional effects
Kurnik D, et al.
Clin Pharmacol Ther 2006 Mar;79(3):173-85

Association of protein tyrosine phosphatase-n1 polymorphisms with coronary calcified plaque in the diabetes heart study
Burdon KP, et al.
Diabetes 2006 Mar;55(3):651-8

Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)
Burdon KP, et al.
Am Heart J 2006 Mar;151(3):706-11

Risk of recurrent venous thromboembolism or bleeding in relation to thrombophilic risk factors in patients receiving ximelagatran or placebo for long-term secondary prevention of venous thromboembolism
Wahlander K, et al.
Br J Haematol 2006 Apr;133(1):68-77

The angiotensin II receptor antagonist valsartan inhibits endothelin 1-induced vasoconstriction in the skin microcirculation in humans in vivo: Influence of the G-protein beta(3) subunit (GNB3) C825T polymorphism
Mitchell A, et al.
Clin Pharmacol Ther 2006 Mar;79(3):274-81

Polymorphisms in human connexin40 gene promoter are associated with increased risk of hypertension in men
Firouzi M, et al.
J Hypertens 2006 Feb;24(2):325-30

Factor v leiden mutation in venous thrombosis in southeast Turkey
Kalkanli S, et al.
Angiology 2006 Mar-2006 Apr;57(2):193-6

The incidence of some angiotensin-1 converting enzyme gene alleles in patients with coronary heart disease
Klin Med (Mosk) 2006;84(1):22-4

Haplotype of thrombomodulin gene associated with plasma thrombomodulin level and deep vein thrombosis in the Japanese population
Sugiyama S, et al.
Thromb Res 2006 Feb

A coding polymorphism in the 12-lipoxygenase gene is associated to essential hypertension and urinary 12(S)-HETE
Quintana LF, et al.
Kidney Int 2006 Feb;69(3):526-30

Influence of eotaxin 67G>A polymorphism on plasma eotaxin concentrations in myocardial infarction survivors and healthy controls
Sheikine Y, et al.
Atherosclerosis 2006 Feb

Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families - a public health perspective
Merlo J, et al.
BMC Med Genet 2006 Mar;7(1):14

 

Diseases of the Respiratory System

Impact of IL8and IL8-Receptor alphapolymorphisms on the genetics of bronchial asthma and severe RSV infections
Puthothu B, et al.
Clin Mol Allergy 2006 Feb;4(1):2

IL-4 alpha chain receptor (IL-4Ralpha) polymorphisms in allergic bronchopulmonary sspergillosis
Knutsen AP, et al.
Clin Mol Allergy 2006 Feb;4(1):3

Association between polymorphism of tumour necrosis factor {alpha}-308 gene promoter and asthma: a meta-analysis
Gao J, et al.
Thorax 2006 Mar

Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis
Li CS, et al.
J Hum Genet 2006 Mar

 

Diseases of the Digestive System

No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis
Wohlfahrt JC, et al.
J Periodontol 2006 Mar;77(3):426-36

Analysis of cytotoxic T lymphocyte associated antigen 4 gene polymorphisms in patients with ulcerative colitis
Lankarani KB, et al.
J Gastroenterol Hepatol 2006 Feb;21(2):449-53

 

Diseases of the Genitourinary System

Role of PAX2 gene polymorphisms in Henoch-Schonlein purpura nephritis
Yi ZW, et al.
Nephrology (Carlton) 2006 Feb;11(1):42-8

Association of Urokinase Gene 3'-UTR Polymorphism with Calcium Oxalate Nephrolithiasis
Mittal RD, et al.
J Endourol 2006 Feb;20(2):157-60

Missense mutations in the BMP15 gene are associated with ovarian failure
Dixit H, et al.
Hum Genet 2006 Mar

Tandem Repeats Polymorphism of MUC20 Is an Independent Factor for the Progression of Immunoglobulin A Nephropathy
Li G, et al.
Am J Nephrol 2006 Feb;26(1):43-9

SLC12A3 (Solute Carrier Family 12 Member
Kim JH, et al.
Diabetes 2006 Mar;55(3):843-8

Polymorphism of the FcgRIIa IgG Receptor in Patients with Lupus Nephritis and Glomerulopathy
Gelmetti AP, et al.
J Rheumatol 2006 Mar;33(3):523-30

 

Complications of Pregnancy, Childbirth, and the Puerperium

Genetic polymorphisms of vascular endothelial growth factor in severe pre-eclampsia
Banyasz I, et al.
Mol Hum Reprod 2006 Mar

Plasminogen activator inhibitor 1 gene polymorphism and gestational diabetes mellitus
Leipold H, et al.
Obstet Gynecol 2006 Mar;107(3):651-6

Evaluation of Factor V Leiden, Prothrombin and Methylenetetrahydrofolate Reductase Gene Mutations in Patients with Severe Pregnancy Complications in Northern Finland
Jarvenpaa J, et al.
Gynecol Obstet Invest 2006 Mar;62(1):28-32

Fas (TNFRSF6) Gene Polymorphism in Pregnant Women With Hemolysis, Elevated Liver Enzymes, and Low Platelets and in Their Neonates
Sziller I, et al.
Obstet Gynecol 2006 Mar;107(3):582-7

 

Diseases of the Skin and Subcutaneous Tissue

Role of IL-12B Promoter Polymorphism in Adamantiades-Behcet's Disease Susceptibility: An Involvement of Th1 Immunoreactivity against Streptococcus Sanguinis Antigen
Yanagihori H, et al.
J Invest Dermatol 2006 Mar

Apolipoprotein E polymorphism and lipoprotein compositions in normolipidaemic xanthelasma patients
Tursen U, et al.
J Eur Acad Dermatol Venereol 2006 Mar;20(3):260-3

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of endothelial nitric oxide synthase genotypes with bone mineral density, bone loss, hip structure, and risk of fracture in older women: The SOF study
Taylor BC, et al.
Bone 2006 Feb

Vitamin D receptor gene BsmI polymorphisms in Thai patients with systemic lupus erythematosus
Sakulpipatsin W, et al.
Arthritis Res Ther 2006 Feb;8(2):R48

A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women
Scillitani A, et al.
Hum Genet 2006 Mar

Association of the IL1 gene cluster with susceptibility to ankylosing spondylitis: An analysis of three Canadian populations
Maksymowych WP, et al.
Arthritis Rheum 2006 Mar;54(3):974-85

Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis
Miyashita R, et al.
Arthritis Rheum 2006 Mar;54(3):992-7

Cytokine polymorphisms influence treatment outcomes in SLE patients treated with antimalarial drugs
Lopez P, et al.
Arthritis Res Ther 2006 Feb;8(2):R42

 

Certain Conditions Originating in the Perinatal Period

Paraoxonase gene polymorphism and vitamin levels during pregnancy: Relationship with maternal oxidative stress and neonatal birthweights
Min J, et al.
Reprod Toxicol 2006 Mar

 

Symptoms, Signs and Ill-defined Conditions

Donor methylenetetrahydrofolate reductase genotype is associated with graft-versus-host disease in hematopoietic stem cell transplant patients treated with methotrexate
Murphy N, et al.
Bone Marrow Transplant 2006 Mar

Associations of the -174 g/c interleukin-6 gene promoter polymorphism with serum interleukin 6 and mortality in the elderly
Ravaglia G, et al.
Biogerontology 2005;6(6):415-23

PPARalpha gene variation and physical performance in Russian athletes
Ahmetov II, et al.
Eur J Appl Physiol 2006 Feb

Genotype profiles of Loci encoding DNA repair enzymes in newborn and elderly populations: no evidence of association with longevity
Wilding CS, et al.
Biogerontology 2006;7(1):35-41

Interethnic variability of warfarin maintenance requirement is explained by VKORC1 genotype in an Asian population
Lee SC, et al.
Clin Pharmacol Ther 2006 Mar;79(3):197-205

Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics
Katz DA, et al.
Clin Pharmacol Ther 2006 Mar;79(3):186-96

           

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics