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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 24, 2008
Volume 20, 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.


Infectious and Parasitic Diseases

Mannose-binding lectin deficiency does not appear to predispose to cryptococcosis in non-immunocompromised patients
Eisen DP, et al.
Med Mycol 2008 Jun;46(4):371-5

Host Polymorphisms in Interleukin 4, Complement Factor H, and C-Reactive Protein  Associated with Nasal Carriage of Staphylococcus aureus and Occurrence of Boils
Emonts M, et al.
J Infect Dis 2008 May;197(9):1244-53

Immunological and Genetic Evidence for a Crucial Role of IL-10 in Cutaneous Lesions in Humans Infected with Leishmania braziliensis
Salhi A, et al.
J Immunol 2008 May;180(9):6139-48

The IL-6 system in HIV-1-infection and in HAART-related fat redistribution syndromes
Saumoy M, et al.
AIDS 2008 Apr;22(7):893-6

Human leukocyte antigen-DQ alleles and haplotypes and their associations with resistance and susceptibility to HIV-1 infection
Hardie RA, et al.
AIDS 2008 Apr;22(7):807-16

Common Nonsynonymous Polymorphisms in the NOD2 Gene Are Associated with Resistance or Susceptibility to Tuberculosis Disease in African Americans
Austin CM, et al.
J Infect Dis 2008 Apr

Interleukin 12B gene polymorphism and apparent resistance to hepatitis C virus infection
Hegazy D, et al.
Clin Exp Immunol 2008 Apr

IFNG +874T/A, IL10 -1082G/A and TNF -308G/A polymorphisms in association with tuberculosis susceptibility: a meta-analysis study
Pacheco AG, et al.
Hum Genet 2008 Apr

A functional promoter variant in IL12B predisposes to cerebral malaria
Marquet S, et al.
Hum Mol Genet 2008 Apr

 

Neoplasms

Polymorphisms of glutathione S-transferase A1 and O1 and breast cancer among postmenopausal Danish women
Olsen A, et al.
Eur J Cancer Prev 2008 Jun;17(3):225-9

Genetic polymorphisms of metabolic enzymes CYP1A1, CYP2D6, GSTM1 and GSTT1 and leukemia susceptibility
Chen HC, et al.
Eur J Cancer Prev 2008 Jun;17(3):251-8

Polynucleotide kinase 3' phosphatase variant, dietary variables and risk of adenoma recurrence in the Polyp Prevention Trial
Murphy G, et al.
Eur J Cancer Prev 2008 Jun;17(3):287-90

Combined effect of GSTM1, GSTT1 and GSTP1 polymorphisms on histological subtypes  of lung cancer
Sobti RC, et al.
Biomarkers 2008 May-2008 Jun;13(3):282-95

Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology
Lubinski J, et al.
Breast Cancer Res Treat 2008 Apr

Implication of Xenobiotic Metabolizing Enzyme gene (CYP2E1, CYP2C19, CYP2D6, mEH  and NAT2) Polymorphisms in Breast Carcinoma
Khedhaier A, et al.
BMC Cancer 2008 Apr;8(1):109

MDM2 SNP309 and TP53 Arg72Pro interact to alter therapy-related acute myeloid leukemia susceptibility
Ellis NA, et al.
Blood 2008 Apr

Genetic variants of the XRCC7 gene involved in DNA repair and risk of human bladder cancer
Wang SY, et al.
Int J Urol 2008 Apr

Vitamin D receptor gene polymorphisms and haplotypes and postmenopausal breast cancer risk
Abbas S, et al.
Breast Cancer Res 2008 Apr;10(2):R31

Gender-related survival differences associated with EGFR polymorphisms in metastatic colon cancer
Press OA, et al.
Cancer Res 2008 Apr;68(8):3037-42

Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics
Antoniou A, et al.
J Med Genet 2008 Apr

Ornithine Decarboxylase G316A Genotype Is Prognostic for Colorectal Adenoma Recurrence and Predicts Efficacy of Aspirin Chemoprevention
Hubner RA, et al.
Clin Cancer Res 2008 Apr;14(8):2303-9

Genetic variation in the inhibin pathway and risk of testicular germ cell tumors
Purdue MP, et al.
Cancer Res 2008 Apr;68(8):3043-8

[Association of SNPs in the promoter of MMP-2 and TIMP-2 genes with epithelial ovarian cancer.]
Li XL, et al.
Yi Chuan 2008 Apr;30(4):455-62

A genotype-phenotype examination of cyclin d1 on risk and outcome of squamous cell carcinoma of the head and neck
Marsit CJ, et al.
Clin Cancer Res 2008 Apr;14(8):2371-7

Polymorphisms of the XRCC1 and XPD Genes and Breast Cancer Risk: A Case-Control Study
Kipikasova L, et al.
Pathol Oncol Res 2008 Apr

5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and the risk of acute lymphoblastic leukemia (ALL) in Filipino children
Alcasabas P, et al.
Pediatr Blood Cancer 2008 Apr

Genetic variation in hormone metabolizing genes and risk of testicular germ cell  tumors
Figueroa JD, et al.
Cancer Causes Control 2008 Apr

A tandem repeat of human telomerase reverse transcriptase (hTERT) and risk of breast cancer development and metastasis in Chinese women
Wang Y, et al.
Carcinogenesis 2008 Apr

 

Endocrine, Nutritional and Metabolic Diseases

Association between gynecomastia and aromatase (CYP19) polymorphisms
Czajka-Oraniec I, et al.
Eur J Endocrinol 2008 May;158(5):721-7

Variations in the uncoupling protein-3 gene are associated with specific obesity  phenotypes
van Abeelen AF, et al.
Eur J Endocrinol 2008 May;158(5):669-76

Variation in the bone morphogenetic protein-2 gene: effects on fat and lean body  mass in young and elderly women
McGuigan F, et al.
Eur J Endocrinol 2008 May;158(5):661-8

RANTES/CCL5 gene polymorphisms, serum concentrations, and incident type 2 diabetes: results from the MONICA/KORA Augsburg case-cohort study, 1984-2002
Herder C, et al.
Eur J Endocrinol 2008 May;158(5):R1-5

A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity
Blom AM, et al.
J Immunol 2008 May;180(9):6385-91

The -1131T>C Polymorphism in the Apolipoprotein A5 Gene is Related to Hypertriglyceridemia in Taiwanese Aborigines
Huang MC, et al.
Kaohsiung J Med Sci 2008 Apr;24(4):171-9

Study of Toll-like receptor gene loci in sarcoidosis
Schurmann M, et al.
Clin Exp Immunol 2008 Apr

The effect of IL6-174C/G polymorphism on postprandial triglycerides metabolism in the GOLDN study
Shen J, et al.
J Lipid Res 2008 Apr

Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus
Flekac M, et al.
BMC Med Genet 2008 Apr;9(1):30

IL13, CD14, pet and tobacco smoke influence atopy in 3 Dutch cohorts; The Allergenic study
Bottema RW, et al.
Eur Respir J 2008 Apr

Association analysis of the type 2 diabetes loci in type 1 diabetes
Qu HQ, et al.
Diabetes 2008 Apr

The MTHFR C677T genotype and the risk of obesity in 3 large population based cohorts
Lewis S, et al.
Eur J Endocrinol 2008 Apr

Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) cohort
Marvelle AF, et al.
Diabetes 2008 Apr

HAPLOTYPE STRUCTURE OF THE ENPP1 GENE AND NOMINAL ASSOCIATION OF THE K121Q POLYMORPHISM WITH GLYCEMIC TRAITS IN THE FRAMINGHAM HEART STUDY
Stolerman ES, et al.
Diabetes 2008 Apr

Angiotensinogen gene T235 variant: a marker for the development of persistent microalbuminuria in children and adolescents with type 1 diabetes mellitus
Gallego PH, et al.
J Diabetes Complications 2008 Apr;22(3):191-8

Influence of Lys656Asn polymorphism of the leptin receptor gene on insulin resistance in nondiabetic obese patients
de Luis DA, et al.
J Diabetes Complications 2008 Apr;22(3):199-204

Association of insulin sensitivity and glucose tolerance with the c.825C>T variant of the G protein beta-3 subunit gene
Kopf D, et al.
J Diabetes Complications 2008 Apr;22(3):205-9

A digenic combination of polymorphisms within ESR1 and ESR2 genes are associated  with age at menarche in the Spanish population
Mendoza N, et al.
Reprod Sci 2008 Apr;15(3):305-11

 

Diseases of the Blood & Blood-Forming Organ Disorders

Serum ferritin concentrations and body iron stores in a multicenter, multiethnic  primary-care population
Gordeuk VR, et al.
Am J Hematol 2008 Apr

 

Mental Disorders

Linkage and Association of DRD2 Gene TaqI Polymorphism with Schizophrenia in an Iranian Population
Behravan J, et al.
Arch Iran Med 2008 May;11(3):252-6

Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence
Wang JC, et al.
Mol Psychiatry 2008 Apr

Variants in the Estrogen Receptor Alpha Gene and its mRNA Contribute to Risk for  Schizophrenia
Weickert CS, et al.
Hum Mol Genet 2008 Apr

Tph2 gene variants modulate response control processes in adult ADHD patients and healthy individuals
Baehne CG, et al.
Mol Psychiatry 2008 Apr

Genetic Variation in the DAOA (G72) Gene Modulates Hippocampal Function in Subjects at High Risk of Schizophrenia
Hall J, et al.
Biol Psychiatry 2008 Apr

Neurotrophic factor-related gene polymorphisms and adult attention deficit hyperactivity disorder (ADHD) score in a high-risk male population
Conner AC, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Apr

The Tachykinin Receptor 3 Is Associated With Alcohol and Cocaine Dependence
Foroud T, et al.
Alcohol Clin Exp Res 2008 Apr

Sensorimotor Gating of Schizophrenia Patients Is Influenced by 5-HT(2A) Receptor  Polymorphisms
Quednow BB, et al.
Biol Psychiatry 2008 Apr

 

Diseases of the Nervous System and Sense Organs

ABCC2 haplotype is not associated with drug-resistant epilepsy
Seo T, et al.
J Pharm Pharmacol 2008 May;60(5):631-5

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method
Wang Y, et al.
Arch Neurol 2008 Apr;65(4):467-74

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
Ross OA, et al.
Ann Neurol 2008 Apr

Multiple Gene Polymorphisms in the Complement Factor H Gene are Associated with Exudative Age-related Macular Degeneration in Chinese
Ng TK, et al.
Invest Ophthalmol Vis Sci 2008 Apr

Lack of Association between LOXL1 variants and Primary Open-angle Glaucoma in Three Different Populations
Liu Y, et al.
Invest Ophthalmol Vis Sci 2008 Apr

APOE epsilon4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case-control study from central Norway
Sando SB, et al.
BMC Neurol 2008 Apr;8(1):9

Meta-analysis of VEGF variations in ALS: increased susceptibility in male carriers of the -2578AA genotype
Lambrechts D, et al.
J Med Genet 2008 Apr

Val158Met Polymorphism in the Catechol-O-Methyltransferase (COMT) Gene Is Not Associated with Tardive Dyskinesia in Schizophrenia
Kang SG, et al.
Neuropsychobiology 2008 Apr;57(1-2):22-5

Association of the Homeobox Transcription Factor Gene ENGRAILED 2 with Autistic Disorder in Chinese Children
Yang P, et al.
Neuropsychobiology 2008 Apr;57(1-2):3-8

Association study on glutathione S-transferase omega 1 and 2 and familial ALS
van de Giessen E, et al.
Amyotroph Lateral Scler 2008 Apr;9(2):81-4

SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
Eisen A, et al.
Amyotroph Lateral Scler 2008 Apr;9(2):108-19

PITX3 polymorphism is associated with early onset Parkinson's disease
Bergman O, et al.
Neurobiol Aging 2008 Apr

 

Diseases of the Circulatory System

Variation in the PDE4D Gene and Ischemic Stroke Risk. A Systematic Review and Meta-analysis on 5200 Cases and 6600 Controls
Bevan S, et al.
Stroke 2008 Apr

Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia
van der Net JB, et al.
Eur Heart J 2008 Apr

Association of the -250G/A promoter polymorphism of the hepatic lipase gene with  the risk of peripheral arterial disease in type 2 diabetic patients
Valdivielso P, et al.
J Diabetes Complications 2008 Apr

Blood Pressure and Renal Sodium Handling in Relation to Genetic Variation in the  DRD1 Promoter and GRK4
Staessen JA, et al.
Hypertension 2008 Apr

Single Nucleotide Polymorphisms and Haplotype of Four Genes Encoding Cardiac Ion  Channels in Chinese and their Association with Arrhythmia
Zhang Y, et al.
Ann Noninvasive Electrocardiol 2008 Apr;13(2):180-90

Glutathione Peroxidase 1 C593T Polymorphism Is Associated with Lobar Intracerebral Hemorrhage
Pera J, et al.
Cerebrovasc Dis 2008 Apr;25(5):445-9

Peroxisome Proliferator-Activated Receptor-Gamma Gene Polymorphism and Risk of Cardiovascular Disease in Patients with Diabetic Nephropathy
Szeto CC, et al.
Am J Nephrol 2008 Apr;28(5):715-22

Genetic polymorphisms for the study of multifactorial stroke
Bersano A, et al.
Hum Mutat 2008 Apr

Association of {beta}1-Adrenergic Receptor Genetic Polymorphism With Mental Stress-Induced Myocardial Ischemia in Patients With Coronary Artery Disease
Hassan M, et al.
Arch Intern Med 2008 Apr;168(7):763-70

Collaborative pooled analysis of data on C-reactive protein gene variants and coronary disease: judging causality by Mendelian randomisation
Eur J Epidemiol 2008 Apr

 

Diseases of the Respiratory System

Lung Function Loss, Smoking, Vitamin C Intake and Variations in Glutamate Cysteine Ligase Subunits
Siedlinski M, et al.
Am J Respir Crit Care Med 2008 Apr

Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with  improved lung function in cystic fibrosis
Bremer LA, et al.
Hum Mol Genet 2008 Apr

The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population
Shyur SD, et al.
Eur J Hum Genet 2008 Apr

Association of TGF-beta1, CD14, IL-4, IL-4R and ADAM33 gene polymorphisms with asthma severity in children and adolescents
de Faria IC, et al.
J Pediatr (Rio J) 2008 Apr;84(3)

 

Diseases of the Digestive System

HLA-DRB1 alleles influence clinical phenotypes in Japanese patients with ulcerative colitis
Matsumura Y, et al.
Tissue Antigens 2008 May;71(5):447-52

APC mutation spectrum in ileoanal pouch polyps resembles that of colorectal polyps
Will OC, et al.
Br J Surg 2008 Apr

Association of TNFSF15 With Crohn's Disease in Koreans
Yang SK, et al.
Am J Gastroenterol 2008 Apr

Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis
Yanaru-Fujisawa R, et al.
Clin Genet 2008 Apr

Genetic variants associated with arsenic susceptibility: study of purine nucleoside phosphorylase, arsenic (+3) methyltransferase, and glutathione s-transferase omega genes
De Chaudhuri S, et al.
Environ Health Perspect 2008 Apr;116(4):501-5

Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis
Aoun E, et al.
PLoS ONE 2008;3(4):e2003

 

Diseases of the Genitourinary System

The effect of polymorphisms in the renin-angiotensin-aldosterone system on diabetic nephropathy risk
Mollsten A, et al.
J Diabetes Complications 2008 Apr

TNFalpha -308 C-->T and -863 C-->A Polymorphisms and Spermiogram Characteristics
Kurz C, et al.
Gynecol Obstet Invest 2008 Apr;66(1):63-7

 

Complications of Pregnancy, Childbirth, and the Puerperium

Polymorphism of the interleukin 1 receptor antagonist (IL1Ra) gene and placental  abruption
Jaaskelainen E, et al.
J Reprod Immunol 2008 Apr

The HLA-G 14bp gene polymorphism and decidual HLA-G 14bp gene expression in pre-eclamptic and normal pregnancies
Iversen AC, et al.
J Reprod Immunol 2008 Apr

Thrombophilic mutations in pre-eclampsia and pregnancy-induced hypertension
Omar SZ, et al.
J Obstet Gynaecol Res 2008 Apr;34(2):174-8

 

Diseases of the Skin and Subcutaneous Tissue

Polymorphisms in the interleukin-1 gene influence the stratum corneum interleukin-1 alpha concentration in uninvolved skin of patients with chronic irritant contact dermatitis
de Jongh CM, et al.
Contact Dermatitis 2008 May;58(5):263-8

Cytokine gene polymorphisms and susceptibility to chronic irritant contact dermatitis
de Jongh CM, et al.
Contact Dermatitis 2008 May;58(5):269-77

 

Diseases of the Musculoskeletal System and Connective Tissue

HLA-DRB1 Alleles and Henoch-Schonlein Purpura: Susceptibility and Severity of Disease
Soylemezoglu O, et al.
J Rheumatol 2008 Apr

TCRBV20S1 and TCRBV3S1 Gene Segment Polymorphisms in Systemic Sclerosis
Bredemeier M, et al.
J Rheumatol 2008 Apr

Tumor necrosis factor-alpha and Interleukin-10 gene promoter polymorphisms in Turkish rheumatoid arthritis patients
Ates O, et al.
Clin Rheumatol 2008 Apr

Replication of associations between LRP5 and ESRRA variants and bone density in premenopausal women
Giroux S, et al.
Osteoporos Int 2008 Apr

Associations of DNase IV polymorphisms with autoantibodies in patients with systemic lupus erythematosus
Kim I, et al.
Rheumatology (Oxford) 2008 Apr

Low frequency of HLA-B27 in ankylosing spondylitis patients from Turkey
Gunal EK, et al.
Joint Bone Spine 2008 Apr

Interactions of interleukin-6 gene polymorphisms with calcium intake and physical activity on bone mass in pre-menarche Chinese girls
Li X, et al.
Osteoporos Int 2008 Apr

 

Congenital Anomalies

Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias
Beleza-Meireles A, et al.
Eur J Endocrinol 2008 May;158(5):729-39

Variation in WNT Genes is Associated with Nonsyndromic Cleft Lip with or without  Cleft Palate
Chiquet BT, et al.
Hum Mol Genet 2008 Apr

 

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Page last reviewed: April 24, 2008 (archived document)
Content Source: National Office of Public Health Genomics