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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
March 23, 2006
Volume 16, 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

Analysis of PRNP Gene Codon 129 Polymorphism in the Greek Population
Saetta AA, et al.
Eur J Epidemiol 2006;21(3):211-5

 

Infectious and Parasitic Diseases

Host Immunogenetics and Control of Human Herpesvirus-8 Infection
Brown EE, et al.
J Infect Dis 2006 Apr;193(8):1054-62

HLA-DRB1 Donor-Recipient Mismatch Affects the Outcome of Hepatitis C Disease Recurrence After Liver Transplantation
Belli LS, et al.
Gastroenterology 2006 Mar;130(3):695-702

 

Neoplasms

Polymorphisms of the FAS and FAS ligand genes associated with risk of cutaneous malignant melanoma
Li C, et al.
Pharmacogenet Genomics 2006 Apr;16(4):253-63

A single-nucleotide polymorphism in the XPG gene, and tumour stage, grade, and clinical course in patients with nonmuscle-invasive neoplasms of the urinary bladder
Sakano S, et al.
BJU Int 2006 Apr;97(4):847-51

Polymorphisms in the alpha-adrenoceptor gene do not modify the short- and long-term efficacy of alpha-adrenoceptor antagonists in the treatment of benign prostatic hyperplasia
Mochtar CA, et al.
BJU Int 2006 Apr;97(4):852-5

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
Simchoni S, et al.
Proc Natl Acad Sci U S A 2006 Mar;103(10):3770-4

APC I1307K and the Risk of Prostate Cancer
Poynter JN, et al.
Cancer Epidemiol Biomarkers Prev 2006 Mar;15(3):468-73

Interactions of sequence variants in interleukin-1 receptor-associated kinase4 and the toll-like receptor 6-1-10 gene cluster increase prostate cancer risk
Sun J, et al.
Cancer Epidemiol Biomarkers Prev 2006 Mar;15(3):480-5

Prostacyclin synthase and arachidonate 5-lipoxygenase polymorphisms and risk of colorectal polyps
Poole EM, et al.
Cancer Epidemiol Biomarkers Prev 2006 Mar;15(3):502-8

Genetic variation in the nucleotide excision repair pathway and bladder cancer risk
Garcia-Closas M, et al.
Cancer Epidemiol Biomarkers Prev 2006 Mar;15(3):536-42

Functional polymorphisms in the promoter regions of the FAS and FAS ligand genes and risk of bladder cancer in south China: a case-control analysis
Li C, et al.
Pharmacogenet Genomics 2006 Apr;16(4):245-51

RNASEL Mutation Screening and Association Study in Ashkenazi and Non-Ashkenazi Prostate Cancer Patients
Orr-Urtreger A, et al.
Cancer Epidemiol Biomarkers Prev 2006 Mar;15(3):474-9

Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival
Li D, et al.
Cancer Res 2006 Mar;66(6):3323-30

BRCA1-positive breast cancers in young women from Poland
Lubinski J, et al.
Breast Cancer Res Treat 2006 Mar

Diet, lifestyle and BRCA-related breast cancer risk among French-Canadians
Nkondjock A, et al.
Breast Cancer Res Treat 2006 Mar

Polymorphisms of the XRCC1, XRCC3 and XPD genes and risk of colorectal adenoma and carcinoma, in a Norwegian cohort: a case control study
Skjelbred CF, et al.
BMC Cancer 2006 Mar;6(1):67

Relationship between cyclooxygenase 8473T>C polymorphism and risk of lung cancer: a case-control study
Park JM, et al.
BMC Cancer 2006 Mar;6(1):70

Linking TP53 codon 72 and P21 nt590 genotypes to the development of cervical and ovarian cancer
Santos AM, et al.
Eur J Cancer 2006 Mar

Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma
Wang SS, et al.
Carcinogenesis 2006 Mar

Population-based case-control study of AhR (aryl hydrocarbon receptor) and CYP1A2 polymorphisms and breast cancer risk
Long JR, et al.
Pharmacogenet Genomics 2006 Apr;16(4):237-43

Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population
Cui J, et al.
Clin Chim Acta 2006 Mar

Inflammatory cytokine gene polymorphisms, nonsteroidal anti-inflammatory drug use, and risk of adenoma polyp recurrence in the polyp prevention trial
Sansbury LB, et al.
Cancer Epidemiol Biomarkers Prev 2006 Mar;15(3):494-501

Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas
Sabo M, et al.
BMC Cancer 2006 Mar;6(1):71

 

Endocrine, Nutritional and Metabolic Diseases

CD14 promoter polymorphisms have no functional significance and are not associated with atopic phenotypes
Hui Liang X, et al.
Pharmacogenet Genomics 2006 Apr;16(4):229-36

Influence of lipoprotein lipase gene Ser447Stop and beta(1)-adrenergic receptor gene Arg389Gly polymorphisms and their interaction on obesity from childhood to adulthood: the Bogalusa Heart Study
Li S, et al.
Int J Obes (Lond) 2006 Mar

Lack of association of type 1 diabetes with the IL4R gene
Qu HQ, et al.
Diabetologia 2006 Mar

Genetic variations in ZFP36 and their possible relationship to autoimmune diseases
Carrick DM, et al.
J Autoimmun 2006 Mar

Effects of the Common 677C>T Mutation of the 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Gene on Ovarian Responsiveness to Recombinant Follicle-Stimulating Hormone
Thaler CJ, et al.
Am J Reprod Immunol 2006 Apr;55(4):251-8

A study of the relationships between KLF2 polymorphisms and body weight control in a French population
Meirhaeghe A, et al.
BMC Med Genet 2006 Mar;7(1):26

A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population
Nunez C, et al.
BMC Med Genet 2006 Mar;7(1):25

The hormone-sensitive lipase C-60G promoter polymorphism is associated with increased waist circumference in normal-weight subjects
Carlsson E, et al.
Int J Obes (Lond) 2006 Mar

 

Mental Disorders

Genetic variant of prodynorphin gene is risk factor for methamphetamine dependence
Nomura A, et al.
Neurosci Lett 2006 Mar

Association of 677C>T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene with bipolar disorder and schizophrenia
Kempisty B, et al.
Neurosci Lett 2006 Mar

Lithium response and Val66Met polymorphism of the brain-derived neurotrophic factor gene in Japanese patients with bipolar disorder
Masui T, et al.
Psychiatr Genet 2006 Apr;16(2):49-50

Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations
Sanjuan J, et al.
Psychiatr Genet 2006 Apr;16(2):67-72

Genetic association between Notch4 polymorphisms and Japanese schizophrenics
Shibata N, et al.
Psychiatr Genet 2006 Apr;16(2):77-9

The catechol O-methyltransferase Val158Met polymorphism and herpes simplex virus type 1 infection are risk factors for cognitive impairment in bipolar disorder: additive gene-environmental effects in a complex human psychiatric disorder
Dickerson FB, et al.
Bipolar Disord 2006 Apr;8(2):124-32

Interaction of serotonergic and noradrenergic gene variants in panic disorder
Freitag CM, et al.
Psychiatr Genet 2006 Apr;16(2):59-65

The VNTR Polymorphism in the Human Dopamine Transporter Gene: Improved Detection and Absence of Association of VNTR Alleles with Attention-Deficit Hyperactivity Disorder
Simsek M, et al.
Genet Test 2006 Spring;10(1):31-4

Monoamine oxidase A gene promoter polymorphism affects novelty seeking and reward dependence in healthy study participants
Shiraishi H, et al.
Psychiatr Genet 2006 Apr;16(2):55-8

A meta-analysis of the association of the HOPA12bp polymorphism and schizophrenia
Philibert RA
Psychiatr Genet 2006 Apr;16(2):73-6

A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample
Guindalini C, et al.
Proc Natl Acad Sci U S A 2006 Mar

 

Diseases of the Nervous System and Sense Organs

No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: A tagging SNP approach
Shah PR, et al.
Amyotroph Lateral Scler Other Motor Neuron Disord 2006 Mar;7(1):46-56

Estrogen receptor alpha and risk for cognitive impairment in postmenopausal women
Olsen L, et al.
Psychiatr Genet 2006 Apr;16(2):85-8

Complement factor H polymorphisms in Japanese population with age-related macular degeneration
Okamoto H, et al.
Mol Vis 2006;12:156-8

Albumin gene encoding free fatty acid and beta-amyloid transporter is genetically associated with Alzheimer disease
Kimura R, et al.
Psychiatry Clin Neurosci 2006 Apr;60 Suppl 1:S34-9

Association of apolipoprotein E genotype and Alzheimer disease in African Americans
Murrell JR, et al.
Arch Neurol 2006 Mar;63(3):431-4

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic
Yaeger D, et al.
Am J Med Genet A 2006 Mar

The {alpha}-synuclein gene in multiple system atrophy
Ozawa T, et al.
J Neurol Neurosurg Psychiatry 2006 Apr;77(4):464-7

Genetic associations between cathepsin D exon 2 C->T polymorphism and Alzheimer's disease, and pathological correlations with genotype
Davidson Y, et al.
J Neurol Neurosurg Psychiatry 2006 Apr;77(4):515-7

Prion protein gene codon 129 modulates clinical course of neurological Wilson disease
Grubenbecher S, et al.
Neuroreport 2006 Apr;17(5):549-52

 

Diseases of the Circulatory System

Influence of fibrillin-1 genotype on aortic stiffness in men: a note of caution
Yasmin, et al.
J Appl Physiol 2006 Apr;100(4):1431-2

Association of Transforming Growth Factor-{beta}1 Gene Polymorphisms With Myocardial Infarction in Patients With Angiographically Proven Coronary Heart Disease
Koch W, et al.
Arterioscler Thromb Vasc Biol 2006 Mar

The long QT syndrome family of cardiac ion channelopathies: A HuGE review
Modell SM & Lehmann MH
Genet Med 2006 Mar;8(3):143-55

The 460Trp allele of alpha-adducin increases carotid intima-media thickness in young adult males
Sarzani R, et al.
J Hypertens 2006 Apr;24(4):697-703

Association between apolipoprotein E polymorphism and coronary artery disease in the Kermanshah population in Iran
Kharrazi H, et al.
Clin Biochem 2006 Mar

Evaluation of single nucleotide polymorphisms in the phosphodiesterase 4D gene (PDE4D) and their association with ischaemic stroke in a large German cohort
Kuhlenbaumer G, et al.
J Neurol Neurosurg Psychiatry 2006 Apr;77(4):521-4

alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia
Perdu J, et al.
J Hypertens 2006 Apr;24(4):705-10

Epithelial sodium channel allele T594M is not associated with blood pressure or blood pressure response to amiloride
Hollier JM, et al.
Hypertension 2006 Mar;47(3):428-33

Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis: Interaction with cigarette smoking
Wei Q, et al.
Atherosclerosis 2006 Mar

 

Diseases of the Respiratory System

Influence of {beta}2-Adrenergic Receptor Genotype on Airway Function During Exercise in Healthy Adults
Snyder EM, et al.
Chest 2006 Mar;129(3):762-70

 

Diseases of the Digestive System

IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin
Barisani D, et al.
Genet Med 2006 Mar;8(3):169-74

Genetic Variants in TNF-alpha But Not DLG5 Are Associated with Inflammatory Bowel Disease in a Large United Kingdom Cohort
Tremelling M, et al.
Inflamm Bowel Dis 2006 Mar;12(3):178-84

 

Diseases of the Genitourinary System

Studies on the Human Leukocyte Antigens in Patients with Polycystic Ovary Syndrome in a Japanese Population - Possible Susceptibility of HLA-A11 and -DRB1*0403 to Patient Population with Polycystic Ovary Syndrome
Kaibe M, et al.
Am J Reprod Immunol 2006 Apr;55(4):301-6

Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3
Christensen GL, et al.
BMC Med Genet 2006 Mar;7(1):27

Leukemia inhibitory factor gene mutations in the population of infertile women are not restricted to nulligravid patients
Kralickova M, et al.
Eur J Obstet Gynecol Reprod Biol 2006 Mar

Analysis of two polymorphisms in the promoter region of matrix metalloproteinase 1 and 3 genes in women with endometriosis
Ferrari MM, et al.
Acta Obstet Gynecol Scand 2006;85(2):212-7

 

Complications of Pregnancy, Childbirth, and the Puerperium

Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) and development of pre-eclampsia: a nested case-control study and a meta-analysis
Yu CK, et al.
BMC Pregnancy Childbirth 2006 Mar;6(1):7

Adiponectin gene haplotype is associated with preeclampsia
Saarela T, et al.
Genet Test 2006 Spring;10(1):35-9

Pregnancy-associated plasma protein-A polymorphism and the risk of recurrent pregnancy loss
Suzuki K, et al.
J Reprod Immunol 2006 Mar

The interleukin-1beta +3953 single nucleotide polymorphism: cervical protein concentration and preterm delivery risk
Edwards RK, et al.
Am J Reprod Immunol 2006 Apr;55(4):259-64

 

Diseases of the Skin and Subcutaneous Tissue

Human arylamine N-acetyltransferase 2 polymorphism and susceptibility to allergic contact dermatitis
Nacak M, et al.
Int J Dermatol 2006 Mar;45(3):323-6

Association of HLA class I and class II alleles with psoriasis vulgaris in Turkish population. Influence of type I and II psoriasis
Atasoy M, et al.
Saudi Med J 2006 Mar;27(3):373-6

 

Diseases of the Musculoskeletal System and Connective Tissue

Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians
Rodriguez-Lopez J, et al.
Arthritis Res Ther 2006 Mar;8(3):R55

The association between fibromyalgia and polymorphism of monoamine oxidase A and interleukin-4
Su SY, et al.
Clin Rheumatol 2006 Mar

Association of rheumatoid factor production with FcgammaRIIIa polymorphism in Taiwanese rheumatoid arthritis
Chen JY, et al.
Clin Exp Immunol 2006 Apr;144(1):10-6

Negative association between the chemokine receptor CCR5-Delta32 polymorphism and rheumatoid arthritis: a meta-analysis
Prahalad S
Genes Immun 2006 Mar

Association between Polymorphisms of Vitamin D Receptor Gene ApaI, BsmI and TaqI and Muscular Strength in Young Chinese Women
Wang P, et al.
Int J Sports Med 2006 Mar;27(3):182-6

 

Congenital Anomalies

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome
Shashi V, et al.
Clin Genet 2006 Mar;69(3):234-8

 

Symptoms, Signs and Ill-defined Conditions

Rapid analysis of XRCC1 polymorphisms using real-time polymerase chain reaction
Schneider J, et al.
Mol Cell Probes 2006 Mar

Simvastatin does not influence the intestinal P-glycoprotein and MPR2, and the disposition of talinolol after chronic medication in healthy subjects genotyped for the ABCB1, ABCC2 and SLCO1B1 polymorphisms
Bernsdorf A, et al.
Br J Clin Pharmacol 2006 Apr;61(4):440-50

Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions
Hung SI, et al.
Pharmacogenet Genomics 2006 Apr;16(4):297-306

Serious carbamazepine-induced hypersensitivity reactions associated with the HSP70 gene cluster
Alfirevic A, et al.
Pharmacogenet Genomics 2006 Apr;16(4):287-96

 

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