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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 18, 2007
Volume 18, No. 3

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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

CD31/PECAM-1 genotyping and haplotype analyses show population diversity
Robbins FM & Hartzman RJ
Tissue Antigens 2007 Jan;69(1):28-37

HLA-A, -B, -C, -DRB1 allele and haplotype frequencies in an African American population
Tu B, et al.
Tissue Antigens 2007 Jan;69(1):73-85

Allele and Genotype Frequency of MDR1 C3435T in Tamilian Population
Ramasamy K, et al.
Drug Metab Pharmacokinet 2006 Dec;21(6):506-8

Further data on a 9.1-kb insertion-deletion polymorphism: survey of Mediterranean populations
Sidoti A, et al.
Hum Biol 2006 Jun;78(3):371-8

 

Infectious and Parasitic Diseases

Environmental influence on the world-wide prevalence of a 776C>G variant in the transcobalamin gene (TCN2)
Gueant JL, et al.
J Med Genet 2007 Jan

Relationship between HLA Polymorphisms and IFN-{gamma} and IL-10 Cytokine Production in Healthy Individuals after Rubella Vaccination
Ovsyannikova IG, et al.
Clin Vaccine Immunol 2007 Jan

Analysis of the CC chemokine receptor 5 delta32 polymorphism in a Brazilian population with cutaneous leishmaniasis
Brajao de Oliveira K, et al.
J Cutan Pathol 2007 Jan;34(1):27-32

Autoinflammatory gene mutations in Behcet's disease
Kone-Paut I, et al.
Ann Rheum Dis 2007 Jan

Polymorphism in intron 1 of the interferon-gamma gene influences both serum immunoglobulin E levels and the risk for chronic hepatitis B virus infection in Polynesians
Abbott W, et al.
Immunogenetics 2007 Jan

Pharmacogenomics-based Tailored Versus Standard Therapeutic Regimen for Eradication of H. pylori
Furuta T, et al.
Clin Pharmacol Ther 2007 Jan

No association between the +874T/A single nucleotide polymorphism in the IFN-gamma gene and susceptibility to TB
Moran A, et al.
Int J Tuberc Lung Dis 2007 Jan;11(1):113-5

           

Neoplasms

Genome-wide single nucleotide polymorphism analysis of lung cancer risk detects the KLF6 gene
Spinola M, et al.
Cancer Lett 2007 Jan

The interleukin-10 gene promoter polymorphism -1087AG does not correlate with clinical outcome in non-Hodgkin's lymphoma
Kube D, et al.
Genes Immun 2007 Jan

Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma
Hsieh YY, et al.
Fertil Steril 2007 Jan

Ductal Carcinoma In Situ in BRCA Mutation Carriers
Hwang ES, et al.
J Clin Oncol 2007 Jan

DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma
Povey JE, et al.
Carcinogenesis 2007 Jan

Breast Cancer Risk Associated with Genotypic Polymorphism of the Mitotic Checkpoint Genes: a Multigenic Study on Cancer Susceptibility
Lo YL, et al.
Carcinogenesis 2007 Jan

Genetic variation in tumor necrosis factor and lymphotoxin-alpha (TNF-LTA) and breast cancer risk
Gaudet MM, et al.
Hum Genet 2007 Jan

A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors
Purdue MP, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jan;16(1):77-83

Genetic polymorphisms and treatment response in advanced non-small cell lung cancer
Su D, et al.
Lung Cancer 2007 Jan

High-Order Interactions among Genetic Variants in DNA Base Excision Repair Pathway Genes and Smoking in Bladder Cancer Susceptibility
Huang M, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jan;16(1):84-91

Polymorphisms of catechol-o-methyltransferase in men with renal cell cancer
Tanaka Y, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jan;16(1):92-7

Genetic polymorphisms in folate metabolism and the risk of stomach cancer
Zhang FF, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jan;16(1):115-21

Variant in sex hormone-binding globulin gene and the risk of prostate cancer
Berndt SI, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jan;16(1):165-8

Haplotype-based analysis of common variation in the growth hormone receptor gene and prostate cancer risk
McKay JD, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jan;16(1):169-73

Role of GSTM3 Polymorphism in the Risk of Developing Esophageal Cancer
Jain M, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jan;16(1):178-81

Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population
Chen J, et al.
Mol Carcinog 2007 Jan

Integrin {beta}3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk
Jakubowska A, et al.
J Med Genet 2007 Jan

Transforming growth factor-beta1 -509T reduces risk of colorectal cancer, but not adenoma in Koreans
Chung SJ, et al.
Cancer Sci 2007 Jan

No association between polymorphism in the vascular endothelial growth factor gene at position-460 and sporadic prostate cancer in the Turkish population
Onen IH, et al.
Mol Biol Rep 2007 Jan

Association of the EGFR intron 1 CA repeat length with lung cancer risk
Zhang W, et al.
Mol Carcinog 2007 Jan

A polymorphism in the 3' UTR of PTGS2 is not associated with an increase in breast cancer risk: a nested case-control study
Cox DG, et al.
Breast Cancer Res 2007 Jan;9(1):R3

 

Endocrine, Nutritional and Metabolic Diseases

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans
Bhagavath B, et al.
Mol Hum Reprod 2007 Jan

APOA5 gene variation modulates the effects of dietary fat intake on body mass index and obesity risk in the Framingham Heart Study
Corella D, et al.
J Mol Med 2007 Jan

An IGF-I gene polymorphism modifies the risk of developing persistent microalbuminuria in type 1 diabetes
Hovind P, et al.
Eur J Endocrinol 2007 Jan;156(1):83-90

The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites
Jensen DP, et al.
J Mol Med 2007 Jan

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations
Collins SC, et al.
Diabetologia 2007 Jan

Polymorphisms of MICA Microsatellites in Thyroidal Autoimmunity
Ide M, et al.
Med Klin (Munich) 2007 Jan;102(1):11-5

The Pro12Ala Polymorphism in PPARgamma2 Gene Affects Lipid Parameters in Greek Primary School Children: A Case of Gene-to-Gender Interaction
Dedoussis GV, et al.
Am J Med Sci 2007 Jan;333(1):10-5

 

Mental Disorders

The influence of four serotonin-related genes on decision-making in suicide attempters
Jollant F, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jan

Actimetric evidence that CLOCK 3111 T/C SNP influences sleep and activity patterns in patients affected by bipolar depression
Benedetti F, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jan

CYP2B6 Genotype Alters Abstinence Rates in a Bupropion Smoking Cessation Trial
Lee AM, et al.
Biol Psychiatry 2007 Jan

Association of a serotonin receptor 2A gene polymorphism with cognitive functions in patients with schizophrenia
Ucok A, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jan

MLC1Polymorphisms Are Specifically Associated with Periodic Catatonia, a Subgroup of Chronic Schizophrenia
Selch S, et al.
Biol Psychiatry 2007 Jan

Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia
Deng X, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jan

Effect of Tryptophan Hydroxylase-2 Gene Variants on Suicide Risk in Major Depression
de Lara CL, et al.
Biol Psychiatry 2007 Jan

Brain-Derived Neurotrophic Factor Val66Met and Psychiatric Disorders: Meta-Analysis of Case-Control Studies Confirm Association to Substance-Related Disorders, Eating Disorders, and Schizophrenia
Gratacos M, et al.
Biol Psychiatry 2007 Jan

Examining impulsivity as an endophenotype using a behavioral approach: a DRD2 TaqI A and DRD4 48-bp VNTR association study
Eisenberg DT, et al.
Behav Brain Funct 2007 Jan;3(1):2

Gene-gene effects on central processing of aversive stimuli
Smolka MN, et al.
Mol Psychiatry 2007 Jan

No evidence for preferential transmission of common valine allele of the Val66Met polymorphism of the brain-derived neurotrophic factor gene (BDNF) in ADHD
Schimmelmann BG, et al.
J Neural Transm 2007 Jan

Family Based Association Analyses between the Serotonin Transporter Gene Polymorphism (5-HTTLPR) and Neuroticism, Anxiety and Depression
Middeldorp CM, et al.
Behav Genet 2007 Jan

           

Diseases of the Nervous System and Sense Organs

Haemochromatosis gene (HFE) polymorphisms and migraine: an association study
Rainero I, et al.
Cephalalgia 2007 Jan;27(1):9-13

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
Zhou XL, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jan

Cognitive Performance in Older Women Relative to ApoE-ϵ4 Genotype and Aerobic Fitness
Etnier JL, et al.
Med Sci Sports Exerc 2007 Jan;39(1):199-207

The Association Between H63D Mutations in HFE and Amyotrophic Lateral Sclerosis in a Dutch Population
Sutedja NA, et al.
Arch Neurol 2007 Jan;64(1):63-7

Genotype and Childhood Sexual Trauma Moderate Neurocognitive Performance: A Possible Role for Brain-Derived Neurotrophic Factor and Apolipoprotein E Variants
Savitz J, et al.
Biol Psychiatry 2007 Jan

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy
Hempelmann A, et al.
Epilepsy Res 2007 Jan

The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients
Tumini E, et al.
Hum Psychopharmacol 2007 Jan

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
de Brouwer AP, et al.
Hum Mutat 2007 Jan;28(2):207-8

Mitochondrial DNA variants in Bulgarian patients affected by multiple sclerosis
Mihailova SM, et al.
Eur J Neurol 2007 Jan;14(1):44-7

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Rogaeva E, et al.
Nat Genet 2007 Jan

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)
Fisher SA, et al.
Hum Mutat 2007 Jan

Cigarette Smoking, CFH, APOE, ELOVL4, and Risk of Neovascular Age-Related Macular Degeneration
Deangelis MM, et al.
Arch Ophthalmol 2007 Jan;125(1):49-54

A Prospective Study of 2 Major Age-Related Macular Degeneration Susceptibility Alleles and Interactions With Modifiable Risk Factors
Schaumberg DA, et al.
Arch Ophthalmol 2007 Jan;125(1):55-62

Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants
Xiromerisiou G, et al.
Eur J Neurol 2007 Jan;14(1):7-11

Evaluation of the beta2-Adrenergic Receptor Gene as a Candidate Glaucoma Gene in 2 Ancestral Populations
McLaren N, et al.
Arch Ophthalmol 2007 Jan;125(1):105-11

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Toft M, et al.
Mov Disord 2007 Jan

 

Diseases of the Circulatory System

Robust association of the APOEepsilon4 allele with premature myocardial infarction especially in patients without hypercholesterolaemia: the Aachen study
Schmitz F, et al.
Eur J Clin Invest 2007 Feb;37(2):106-8

Renalase gene is a novel susceptibility gene for essential hypertension: a two-stage association study in northern Han Chinese population
Zhao Q, et al.
J Mol Med 2007 Jan

The Relationship between Gene Polymorphism and CRP Level in a Chinese Han Population
Yan M, et al.
Biochem Genet 2007 Jan

Relation of beta(2)-Adrenoceptor Haplotype to Risk of Death and Heart Transplantation in Patients With Heart Failure
Shin J, et al.
Am J Cardiol 2007 Jan;99(2):250-5

Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease
Palikhe A, et al.
Tissue Antigens 2007 Jan;69(1):47-55

Polymorphisms in pro- and anti-inflammatory cytokine genes and susceptibility to atherosclerosis: a pathological study of 1,503 consecutive autopsy cases
Oda K, et al.
Hum Mol Genet 2007 Jan

The association of P-selectin glycoprotein ligand-1 VNTR polymorphisms with coronary stent restenosis
Ozben B, et al.
J Thromb Thrombolysis 2007 Jan

Common Adiponectin Gene Variants Show Different Effects on Risk of Cardiovascular Disease and Type 2 Diabetes in European Subjects
Gable DR, et al.
Ann Hum Genet 2007 Jan

BDNF genotype potentially modifying the association between incident stroke and depression
Kim JM, et al.
Neurobiol Aging 2007 Jan

A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction
Ebana Y, et al.
J Hum Genet 2007 Jan

Polymorphisms of the renin-angiotensin system are associated with blood pressure, atherosclerosis and cerebral white matter pathology
Rijn MJ, et al.
J Neurol Neurosurg Psychiatry 2007 Jan

Apolipoprotein E Gene and Age-Related Maculopathy in Older Individuals: The Cardiovascular Health Study
Tikellis G, et al.
Arch Ophthalmol 2007 Jan;125(1):68-73

 

Diseases of the Respiratory System

Childhood asthma and human leukocyte antigen type
Juhn YJ, et al.
Tissue Antigens 2007 Jan;69(1):38-46

Genetic polymorphisms in alveolar macrophage response-related genes, and risk of silicosis and pulmonary tuberculosis in Chinese iron miners
Qu Y, et al.
Int J Hyg Environ Health 2007 Jan

Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma
Malerba G, et al.
Clin Exp Allergy 2007 Jan;37(1):83-9

Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study
Imboden M, et al.
Respir Res 2007 Jan;8(1):2

 

Diseases of the Digestive System

The IL1A (-889) gene polymorphism is associated with chronic periodontal disease in a sample of Brazilian individuals
Moreira PR, et al.
J Periodontal Res 2007 Feb;42(1):23-30

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4
Santin I, et al.
Genes Immun 2007 Jan

Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease
Silverberg MS, et al.
Eur J Hum Genet 2007 Jan

 

Diseases of the Genitourinary System

The G2964A 3'-untranslated region polymorphism of the signal transducer and activator of transcription 6 gene is associated with endometriosis in South Indian women
Bhanoori M, et al.
Hum Reprod 2007 Jan

NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome
Mao J, et al.
Pediatr Res 2007 Jan;61(1):117-22

Lack of association of IL8 gene polymorphisms with familial vesico-ureteral reflux
Kuroda S & Puri P
Pediatr Surg Int 2007 Jan

TNFA2 and d2 alleles of the tumor necrosis factor alpha gene polymorphism are associated with onset/occurrence of idiopathic membranous nephropathy
Thibaudin D, et al.
Kidney Int 2007 Jan

Association between Haptoglobin Gene Variants and Diabetic Nephropathy: Haptoglobin Polymorphism in Nephropathy Susceptibility
Conway BR, et al.
Nephron Exp Nephrol 2007 Jan;105(3):e75-e79

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association of microsomal epoxide hydrolase gene polymorphism and pre-eclampsia in Turkish women
Pinarbasi E, et al.
J Obstet Gynaecol Res 2007 Feb;33(1):32-7

 

Diseases of the Musculoskeletal System and Connective Tissue

Adiposity, estradiol, and genetic variants of steroid-metabolizing enzymes as determinants of bone mineral density
Zarrabeitia MT, et al.
Eur J Endocrinol 2007 Jan;156(1):117-22

Solute Carrier Family 11 Member A1 Gene Polymorphisms in Reactive Arthritis
Chen YJ, et al.
J Clin Immunol 2007 Jan

Vitamin D receptor gene haplotype is associated with body height and bone size
Fang Y, et al.
J Clin Endocrinol Metab 2007 Jan

HLA-Cw6 and HLA-DRB1*07 together are associated with less severe joint disease in psoriatic arthritis
Ho PY, et al.
Ann Rheum Dis 2007 Jan

CYP19A1 polymorphisms are associated with bone mineral density in Chinese men
Hong X, et al.
Hum Genet 2007 Jan

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men
Saarinen A, et al.
Bone 2007 Jan

The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus (SLE)
Hellquist A, et al.
J Med Genet 2007 Jan

 

Congenital Anomalies

Allelic variants in HOX genes in cryptorchidism
Wang Y, et al.
Birth Defects Res A Clin Mol Teratol 2007 Jan

Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts
Chevrier C, et al.
Am J Med Genet A 2007 Jan

 

Symptoms, Signs and Ill-defined Conditions

Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome
Arnestad M, et al.
Circulation 2007 Jan

 

 

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Page last reviewed: January 18, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics