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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
November 15, 2007
Volume 19, No. 20

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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

Genetic polymorphisms and haplotype structures of the human CYP2W1 gene in a Japanese population
Hanzawa Y, et al.
Drug Metab Dispos 2007 Nov

The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population
Dyrbye H, et al.
Eur J Epidemiol 2007 Nov

 

Infectious and Parasitic Diseases

Alleles -308A and -1031C in the TNF-alpha gene promoter do not increase the risk  but associated with circulating levels of TNF-alpha and clinical features of vivax malaria in Indian patients
Sohail M, et al.
Mol Immunol 2007 Nov

Do mitochondrial DNA haplogroups play a role in susceptibility to tuberculosis?
Houshmand M, et al.
Respirology 2007 Nov;12(6):823-7

 

Neoplasms

Genetic variation in transforming growth factor-beta1 gene associated with increased risk of esophageal squamous cell carcinoma
Wei YS, et al.
Tissue Antigens 2007 Dec;70(6):464-9

RAD51 135G-->C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies
Antoniou AC, et al.
Am J Hum Genet 2007 Dec;81(6):1186-200

The rs743572 common variant in the promoter of CYP17A1 is not associated with prostate cancer risk or circulating hormonal levels
Severi G, et al.
BJU Int 2007 Nov

Genetic polymorphisms of XRCC1 (codon 399) and susceptibility to breast cancer in Iranian women, a case-control study
Saadat M, et al.
Breast Cancer Res Treat 2007 Nov

Lipoprotein Receptor Associated Protein (LRPAP1) Insertion/Deletion Polymorphism: Association with Gallbladder Cancer Susceptibility
Pandey SN, et al.
Int J Gastrointest Cancer 2007 Nov

XRCC2 and XRCC3 Gene Polymorphismand Risk of Pancreatic Cancer
Jiao L, et al.
Am J Gastroenterol 2007 Nov

High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland
Brozek I, et al.
Gynecol Oncol 2007 Nov

A Novel Single Nucleotide Polymorphism in XRCC4 Gene is Associated with Gastric Cancer Susceptibility in Taiwan
Chiu CF, et al.
Ann Surg Oncol 2007 Nov

+61A>G polymorphism in the EGF gene does not increase the risk of lung cancer
Kang HG, et al.
Respirology 2007 Nov;12(6):902-5

Clinical correlates of low risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases
Huijts PE, et al.
Breast Cancer Res 2007 Nov;9(6):R78

New Polymorphisms in the PSA Promoter in Patients with Prostate Carcinoma
Schostak M, et al.
Aktuelle Urol 2007 Nov;38(6):465-71

Polymorphisms in metabolic genes, their combination and interaction with tobacco  smoke and alcohol consumption and risk of gastric cancer: a case-control study in an Italian population
Boccia S, et al.
BMC Cancer 2007 Nov;7(1):206

A single-nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances bladder cancer susceptibility
Tasci AI, et al.
BJU Int 2007 Nov

Genotyping of CYP3A5 polymorphisms among Bulgarian patients with sporadic colorectal cancer and controls
Petrova DT, et al.
Onkologie 2007 Nov;30(11):559-63

Impact of CYP3A4 haplotypes on irinotecan pharmacokinetics in Japanese cancer patients
Sai K, et al.
Cancer Chemother Pharmacol 2007 Nov

Association of IL-10 polymorphisms with prostate cancer risk and grade of disease
Faupel-Badger JM, et al.
Cancer Causes Control 2007 Nov

 

Endocrine, Nutritional and Metabolic Diseases

Impact of interleukin 6 -174G>C polymorphism on obesity-related metabolic disorders in people with excess in body weight
Goyenechea E, et al.
Metabolism 2007 Dec;56(12):1643-8

Killer cell immunoglobulin-like receptor genotypes in Japanese patients with type 1 diabetes
Mogami S, et al.
Tissue Antigens 2007 Dec;70(6):506-10

The Trp64Arg polymorphism of the beta(3)-adrenergic receptor gene is associated with increased small dense low-density lipoprotein in a rural Japanese population: the Mima study
Tsuzaki K, et al.
Metabolism 2007 Dec;56(12):1689-93

Relationship between two sequence variations in the gene for peroxisome proliferator-activated receptor-gamma and plasma homocysteine concentration. Health in men study
Golledge J & Norman PE
Hum Genet 2007 Nov

No Association of Sequence Variants in the Neuropeptide Y2 Receptor (NPY2R) Gene  with Early Onset Obesity in Germans
Wang HJ, et al.
Horm Metab Res 2007 Nov;39(11):840-4

Evaluating the association of common LMNA variants with type 2 diabetes and quantitative metabolic phenotypes in French Europids
Duesing K, et al.
Diabetologia 2007 Nov

Association of the PIK3C2G gene polymorphisms with type 2 DM in a Japanese population
Daimon M, et al.
Biochem Biophys Res Commun 2007 Nov

The Y111 H (T415C) Polymorphism in Exon 3 of the Gene Encoding Adiponectin is Uncommon in Polish Obese Patients
Owecki M, et al.
Horm Metab Res 2007 Nov;39(11):797-800

Interaction between dietary fat intake and the cholesterol ester transfer protein TaqIB polymorphism in relation to HDL-cholesterol concentrations among US diabetic men
Li TY, et al.
Am J Clin Nutr 2007 Nov;86(5):1524-9

Psoriasis is associated with pleiotropic susceptibility loci identified in Type II Diabetes and Crohn's disease
Wolf N, et al.
J Med Genet 2007 Nov

Modulation of Type 1 Diabetes Susceptibility by TNF{alpha} -308G/A and Lymphotoxin-{alpha} +249A/G Haplotypes in Bahraini Patients: Lack of Linkage Disequilibrium with Predisposing DQB1-DRB1 Haplotypes
Stayoussef M, et al.
Clin Vaccine Immunol 2007 Nov

Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with iron status in persons with type 2 diabetes mellitus
Arredondo M, et al.
Am J Clin Nutr 2007 Nov;86(5):1347-53

Association of ENPP1 (PC-1) K121Q polymorphism with obesity-related parameters in subjects with metabolic syndrome
Gonzalez-Sanchez JL, et al.
Clin Endocrinol (Oxf) 2007 Nov

Variants in the FFAR1 Gene Are Associated with Beta Cell Function
Kalis M, et al.
PLoS ONE 2007;2(11):e1090

 

Mental Disorders

Norepinephrine transporter and catecholamine-O-methyltransferase gene variants and attention-deficit/hyperactivity disorder symptoms in adults
Retz W, et al.
J Neural Transm 2007 Nov

The Role of the TPH1 and TPH2 Genes for Nicotine Dependence: A Genetic Association Study in Two Different Age Cohorts
Reuter M, et al.
Neuropsychobiology 2007 Nov;56(1):47-54

Meta-Analysis of the Association of the Taq1A Polymorphism with the Risk of Alcohol Dependency: A HuGE Gene-Disease Association Review
Smith L, et al.
Am J Epidemiol 2007 Nov

 

Diseases of the Nervous System and Sense Organs

Serum levels and genetic variation of TGF-beta1 are not associated with Alzheimer's disease
Rodriguez-Rodriguez E, et al.
Acta Neurol Scand 2007 Dec;116(6):409-12

Genetic variation and plasma level of the basic fibroblast growth factor in proliferative diabetic retinopathy
Beranek M, et al.
Diabetes Res Clin Pract 2007 Nov

Genomewide SNP assay reveals mutations underlying Parkinson disease
Simon-Sanchez J, et al.
Hum Mutat 2007 Nov

Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degeneration lesions
Seitsonen S, et al.
Acta Ophthalmol Scand 2007 Nov

Exploring the functional role of the CHRM2 gene in human cognition: results from  a dense genotyping and brain expression study
Gosso FM, et al.
BMC Med Genet 2007 Nov;8(1):66

Association between genetic variants of IL-1beta, IL-6 and TNF-alpha cytokines and cognitive performance in the elderly general population of the MEMO-study
Baune BT, et al.
Psychoneuroendocrinology 2007 Nov

Candidate Single-Nucleotide Polymorphisms From a Genomewide Association Study of  Alzheimer Disease
Li H, et al.
Arch Neurol 2007 Nov

Somatostatin genetic variants modify the risk for Alzheimer's disease among Finnish patients
Vepsalainen S, et al.
J Neurol 2007 Nov

PAI and TPA gene polymorphisms in multiple sclerosis
Peterlin B, et al.
Mult Scler 2007 Nov

Diseases of the Circulatory System

The APOE polymorphism and 1-year outcome in ischemic stroke: genotype-gender interaction
Gromadzka G, et al.
Acta Neurol Scand 2007 Dec;116(6):392-8

The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: A possible explanation for heterogeneity in genetic association studies of AGT and hypertension
Baker M, et al.
Int J Epidemiol 2007 Nov

P2Y(12) polymorphisms and antiplatelet effects of aspirin in patients with coronary artery disease
Bierend A, et al.
Br J Clin Pharmacol 2007 Nov

Protective effect of an endothelial lipase gene variant on coronary artery disease in a Chinese population
Tang NP, et al.
J Lipid Res 2007 Nov

Influence of ALA54THR Polymorphism of Fatty Acid-binding Protein 2 on Obesity and Cardiovascular Risk Factors
de Luis DA, et al.
Horm Metab Res 2007 Nov;39(11):830-4

Association of endothelial nitric oxide synthase gene polymorphism with level of uric acid in serum for acute coronary syndrome.
Wang ZL, et al.
Zhongguo Wei Zhong Bing Ji Jiu Yi Xue 2007 Nov;19(11):652-6

Polymorphisms of the Interleukin-6 Gene Promoter and Abdominal Aortic Aneurysm
Smallwood L, et al.
Eur J Vasc Endovasc Surg 2007 Nov

Haemostatic genetic variants, ABO blood group and bleeding risk during oral anticoagulant treatment after cerebral ischaemia of arterial origin
Pruissen DM, et al.
J Neurol 2007 Nov

Toll-like receptor 4 gene (Asp299Gly) polymorphism associates with carotid artery elasticity The cardiovascular risk in young Finns study
Hernesniemi JA, et al.
Atherosclerosis 2007 Nov

Chlamydia pneumoniae infection is associated with HLA-B*35 in patients with coronary artery disease
Palikhe A, et al.
Clin Vaccine Immunol 2007 Nov

 

Diseases of the Respiratory System

RANTES Gene Promoter Polymorphisms Are Associated with Bronchial Hyperresponsiveness in Korean Children with Asthma
Sohn MH, et al.
Lung 2007 Nov

Connexin 26 and 30 Genes Mutations in Patients with Chronic Rhinosinusitis
Busaba NY & Cunningham MJ
Laryngoscope 2007 Nov

Synergistic effect of the genetic polymorphisms of the renin-angiotensin-aldosterone system on high-altitude pulmonary edema: a study from Qinghai-Tibet altitude
Qi Y, et al.
Eur J Epidemiol 2007 Nov

Replication of an association between 17q21 SNPs and asthma in a French-Canadian  familial collection
Madore AM, et al.
Hum Genet 2007 Nov

Association between urokinase haplotypes and outcome from infection-associated acute lung injury
Arcaroli J, et al.
Intensive Care Med 2007 Nov

Matrix metalloproteinase-1 polymorphism in Taiwanese patients with endobronchial  tuberculosis
Kuo HP, et al.
Tuberculosis (Edinb) 2007 Nov

Polymorphisms of interferon-gamma and interferon-gamma receptor 1 genes and pulmonary tuberculosis in Koreans
Hwang JH, et al.
Respirology 2007 Nov;12(6):906-10

 

Diseases of the Digestive System

Associations With Tight Junction Genes Pard3 And Magi2 In Dutch Patients Point To A Common Barrier Defect For Celiac Disease And Ulcerative Colitis
Wapenaar MC, et al.
Gut 2007 Nov

Comprehensive screening for reg1alpha gene rules out association with tropical calcific pancreatitis
Mahurkar S, et al.
World J Gastroenterol 2007 Nov;13(44):5938-43

 

Diseases of the Genitourinary System

Association of Killer Cell Immunoglobulin-like Receptor Genotypes with Susceptibility to Endometriosis
Kitawaki J, et al.
Am J Reprod Immunol 2007 Dec;58(6):481-6

Serological and genetic factors in early recurrence of IgA nephropathy after renal transplantation
Coppo R, et al.
Clin Transplant 2007 Nov-2007 Dec;21(6):728-37

 

Complications of Pregnancy, Childbirth, and the Puerperium

Inducible nitric oxide synthase (iNOS) gene polymorphism in pre-eclampsia: A pilot study in North India
Bhatnagar S, et al.
Aust N Z J Obstet Gynaecol 2007 Dec;47(6):477-82

 

Diseases of the Skin and Subcutaneous Tissue

A genomewide association study of skin pigmentation in a South asian population
Stokowski RP, et al.
Am J Hum Genet 2007 Dec;81(6):1119-32

Analysis of SPINK 5, KLK 7 and FLG Genotypes in a French Atopic Dermatitis Cohort
Hubiche T, et al.
Acta Derm Venereol 2007;87(6):499-505

 

Diseases of the Musculoskeletal System and Connective Tissue

A Functional Polymorphism in COL11A1, Which Encodes the alpha 1 Chain of Type XI  Collagen, Is Associated with Susceptibility to Lumbar Disc Herniation
Mio F, et al.
Am J Hum Genet 2007 Dec;81(6):1271-7

Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
Zhernakova A, et al.
Am J Hum Genet 2007 Dec;81(6):1284-8

Correlation between some Th1 and Th2 cytokine receptor gene polymorphisms and systemic lupus erythematosus in Chinese patients
Xu Y, et al.
Int J Dermatol 2007 Nov;46(11):1129-35

No evidence that established type 2 diabetes susceptibility variants in the PPARG and KCNJ11 genes have pleiotropic effects on early growth
Bennett AJ, et al.
Diabetologia 2007 Nov

Association between Val80 polymorphism of the CYP19 gene, A163G polymorphism of  the OPG gene and bone mineral density in post-menopausal Chinese women
Geng L, et al.
Yi Chuan 2007 Nov;29(11):1345-50

Programmed cell death 1 genotypes are associated with susceptibility to systemic  lupus erythematosus among Chinese
Wang Q, et al.
Arch Dermatol Res 2007 Nov

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H
Saccone V, et al.
Hum Mutat 2007 Nov

 

Symptoms, Signs and Ill-defined Conditions

Influence of genetic polymorphisms in the apolipoprotein (APOE) and the butyrylcholinesterase (BCHE) gene on stress markers in older adults: A 3-year study
Fiocco AJ, et al.
Neurobiol Aging 2007 Nov

Leptin and Leptin Receptor Gene Polymorphisms in Obstructive Sleep Apnea Syndrome
Hanaoka M, et al.
Chest 2007 Nov

The ACTN3 R577X Polymorphism in East and West African Athletes
Yang N, et al.
Med Sci Sports Exerc 2007 Nov;39(11):1985-8

 

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Page last reviewed: November 15, 2007 (archived document)
Content Source: National Office of Public Health Genomics