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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 22, 2008
Volume 20, No. 21

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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

Evaluation of IL10, IL19 and IL20 gene polymorphisms and chronic hepatitis B infection outcome
Truelove AL, et al.
Int J Immunogenet 2008 Jun;35(3):255-64

 

Neoplasms

Effect modification by catalase genotype suggests a role for oxidative stress in  the association of hormone replacement therapy with postmenopausal breast cancer  risk
Quick SK, et al.
Cancer Epidemiol Biomarkers Prev 2008 May;17(5):1082-7

A novel EGFR mutation D1012H and polymorphism at exon 25 in Japanese lung cancer
Sasaki H, et al.
J Cancer Res Clin Oncol 2008 May

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer
Machackova E, et al.
BMC Cancer 2008 May;8(1):140

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
Gudbjartsson DF, et al.
Nat Genet 2008 May

Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer
Sakamoto H, et al.
Nat Genet 2008 May

Oral cancer and genetic polymorphism of DNA double strand break gene Ku70 in Taiwan
Bau DT, et al.
Oral Oncol 2008 May

Efficacy of gemcitabine in patients with non-small cell lung cancer according to  promoter polymorphisms of the ribonucleotide reductase m1 gene
Kim SO, et al.
Clin Cancer Res 2008 May;14(10):3083-8

Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma
Bethke L, et al.
Cancer Epidemiol Biomarkers Prev 2008 May;17(5):1195-202

VDR and SRD5A2 Polymorphisms Combine to Increase Risk for Prostate Cancer in Both Non-Hispanic White and Hispanic White Men
Torkko KC, et al.
Clin Cancer Res 2008 May;14(10):3223-9

Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in chinese women
Sakoda LC, et al.
Cancer Epidemiol Biomarkers Prev 2008 May;17(5):1066-73

Polymorphisms of the NER pathway genes, ERCC1 and XPD are associated with esophageal adenocarcinoma risk
Tse D, et al.
Cancer Causes Control 2008 May

Matrix Metalloproteinase 1 (MMP1) Is Associated with Early-Onset Lung Cancer
Sauter W, et al.
Cancer Epidemiol Biomarkers Prev 2008 May;17(5):1127-35

Variation in the selenoenzyme genes and risk of advanced distal colorectal adenoma
Peters U, et al.
Cancer Epidemiol Biomarkers Prev 2008 May;17(5):1144-54

Elevated serum level and gene polymorphisms of TGF-beta1 in gastric cancer
Li X, et al.
J Clin Lab Anal 2008 May;22(3):164-71

Multiple independent genetic variants in the 8q24 region are associated with prostate cancer risk
Salinas CA, et al.
Cancer Epidemiol Biomarkers Prev 2008 May;17(5):1203-13

A functional epidermal growth factor (EGF) polymorphism, EGF serum levels, and esophageal adenocarcinoma risk and outcome
Lanuti M, et al.
Clin Cancer Res 2008 May;14(10):3216-22

FGFR2 Is a Breast Cancer Susceptibility Gene in Jewish and Arab Israeli Populations
Raskin L, et al.
Cancer Epidemiol Biomarkers Prev 2008 May;17(5):1060-5

Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes
Magnusson S, et al.
Fam Cancer 2008 May

Mutation analysis of BRIP1/BACH1 in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives
Cao AY, et al.
Breast Cancer Res Treat 2008 May

Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update
Ginsburg O, et al.
Breast Cancer Res Treat 2008 May

Hormone receptor-related gene polymorphisms and prostate cancer risk in North Indian population
Onsory K, et al.
Mol Cell Biochem 2008 May

Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations
Sun J, et al.
Prostate 2008 May

Protective Role of Genetic Polymorphism of Heat Shock Protein 70-2 for Gastric Cancer Risk
Shibata T, et al.
Dig Dis Sci 2008 May

A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population
Nasri S, et al.
BMC Cancer 2008 May;8(1):138

Combined effects of MDM2 SNP 309 and p53 mutation on oral squamous cell carcinomas associated with areca quid chewing
Huang SF, et al.
Oral Oncol 2008 May

The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis
Johnatty SE, et al.
Breast Cancer Res Treat 2008 May

Polymorphism of XRCC1 (at codon 399) and susceptibility to breast cancer, a meta-analysis of the literatures
Saadat M & Ansari-Lari M
Breast Cancer Res Treat 2008 May

Association of the TCF7L2 polymorphism with colorectal cancer and adenoma risk
Hazra A, et al.
Cancer Causes Control 2008 May

Polymorphism of FGFR4 in cancer development and sensitivity to cisplatin and radiation in head and neck cancer
Ansell A, et al.
Oral Oncol 2008 May

Functional variants in cell death pathway genes and risk of pancreatic cancer
Yang M, et al.
Clin Cancer Res 2008 May;14(10):3230-6

 

Endocrine, Nutritional and Metabolic Diseases

Replication of genome-wide association studies of type 2 diabetes susceptibility  in Japan
Horikawa Y, et al.
J Clin Endocrinol Metab 2008 May

Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes-related metabolic risk factors in twins
Souren NY, et al.
Int J Obes (Lond) 2008 May

Serum Folate and Methylenetetrahydrofolate Reductase (MTHFR) C677T Polymorphism Adjusted for Folate Intake
Nishio K, et al.
J Epidemiol 2008 May

Association of variants in the fat mass and obesity associated (FTO) gene with polycystic ovary syndrome
Barber TM, et al.
Diabetologia 2008 May

Androgen receptor gene CAG(n) trinucleotide repeats polymorphism in Chinese women with polycystic ovary syndrome
Liu Q, et al.
Endocrine 2008 May

The -30G>A Polymorphism of the Glucokinase Gene Promoter Is Associated With Obesity in a Population From Southern Spain
Gomez-Zumaquero JM, et al.
Obesity (Silver Spring) 2008 May

The rising incidence of type 1 diabetes is accounted for by cases with lower risk HLA genotypes
Fourlanos S, et al.
Diabetes Care 2008 May

Association of calpain-10 polymorphisms with type 2 diabetes in the Tunisian population
Kifagi C, et al.
Diabetes Metab 2008 May

Common Variation in the FTO Gene Confers Risk of Obesity and Modulates Body Mass  Index in the Chinese Population
Chang YC, et al.
Diabetes 2008 May

 

Diseases of the Blood & Blood-Forming Organ Disorders

Performance of commercial platforms for rapid genotyping of polymorphisms affecting warfarin dose
King CR, et al.
Am J Clin Pathol 2008 Jun;129(6):876-83

Congenital Thrombotic Risk Factors in Beta-Thalassemia
Sipahi T, et al.
Clin Appl Thromb Hemost 2008 May

 

Mental Disorders

Gamma-aminobutyric acid receptor genes and nicotine dependence: evidence for association from a case-control study
Agrawal A, et al.
Addiction 2008 Jun;103(6):1027-38

Effect of 5-HT1A gene polymorphisms on antidepressant response in major depressive disorder
Kato M, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 May

Naltrexone Alone and With Sertraline for the Treatment of Alcohol Dependence in Alaska Natives and Non-Natives Residing in Rural Settings: A Randomized Controlled Trial
O'Malley SS, et al.
Alcohol Clin Exp Res 2008 May

Polymorphisms in the angiotensin-converting enzyme gene region predict coping styles in healthy adults and depressed patients
Heck A, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 May

Polymorphisms in the GRIA1 gene region in psychotic bipolar disorder
Kerner B, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 May

New Evidence for the Association of the Serotonin Transporter Gene (SLC6A4) Haplotypes, Threatening Life Events, and Depressive Phenotype
Lazary J, et al.
Biol Psychiatry 2008 May

 

Diseases of the Nervous System and Sense Organs

Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis
Mamatha G, et al.
Ophthalmic Genet 2008 Jun;29(2):73-8

Association between SCN1A polymorphism and carbamazepine-resistant epilepsy
Abe T, et al.
Br J Clin Pharmacol 2008 May

Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population
Myhre R, et al.
Acta Neurol Scand 2008 May

Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis
Coppede F, et al.
Neurobiol Aging 2008 May

PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications
Chen CM, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 May

Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia
Mellick GD, et al.
Parkinsonism Relat Disord 2008 May

DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients
Vitale C, et al.
Eur J Neurol 2008 May

Risk-reducing effect of education in Alzheimer's disease
Sando SB, et al.
Int J Geriatr Psychiatry 2008 May

Investigation of the functional brain-derived neurotrophic factor gene variant Val66MET in migraine
Marziniak M, et al.
J Neural Transm 2008 May

The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson's disease
Moller JC, et al.
Eur J Neurol 2008 May

 

Diseases of the Circulatory System

Genes involved in the transforming growth factor beta signalling pathway and the  risk of intracranial aneurysms
Ruigrok YM, et al.
J Neurol Neurosurg Psychiatry 2008 Jun;79(6):722-4

Impact of matrix metalloproteinase-1 gene variations on risk of acute coronary syndrome
Han Y, et al.
Coron Artery Dis 2008 Jun;19(4):227-30

Insulin-like growth factor-1 receptor polymorphism and ischemic stroke: a case-control study in Chinese population
Cheng J, et al.
Acta Neurol Scand 2008 May

Haplotype-based case study of human CYP4A11 gene and cerebral infarction in Japanese subject
Fu Z, et al.
Endocrine 2008 May

Association between ESR2 Genetic Variants and Risk of Myocardial Infarction
Domingues-Montanari S, et al.
Clin Chem 2008 May

The Genetics of Carotid Dissection: Meta-Analysis of a MTHFR/C677T Common Molecular Variant
McColgan P & Sharma P
Cerebrovasc Dis 2008 May;25(6):561-5

beta(1) and beta(2)-Adrenergic Receptor Polymorphisms and Idiopathic Ventricular  Arrhythmias
Ulucan C, et al.
J Cardiovasc Electrophysiol 2008 May

Cytochrome P450 2C19 681G>A Polymorphism and High On-Clopidogrel Platelet Reactivity Associated With Adverse 1-Year Clinical Outcome of Elective Percutaneous Coronary Intervention With Drug-Eluting or Bare-Metal Stents
Trenk D, et al.
J Am Coll Cardiol 2008 May;51(20):1925-34

Chondroitin Sulfate Proteoglycan 2 (CSPG2) Gene Polymorphisms rs173686 and rs251124 are not Associated with Intracranial Aneurysms in Chinese Han Nationality
Sun H, et al.
Ups J Med Sci 2007;112(3):289-95

 

Diseases of the Respiratory System

IL1 Gene Cluster Polymorphisms and Its Haplotypes may Predict the Risk to Develop Invasive Pulmonary Aspergillosis and Modulate C-reactive Protein Level
Sainz J, et al.
J Clin Immunol 2008 May

 

Diseases of the Digestive System

Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the  Czech population: high frequency of the CARD15 1007fs
Hradsky O, et al.
Tissue Antigens 2008 Jun;71(6):538-47

 

Diseases of the Genitourinary System

Evidence for association of sex hormone-binding globulin and androgen receptor genes with semen quality
Lazaros L, et al.
Andrologia 2008 Jun;40(3):186-91

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association Between Novel HLA-G Genotypes and Risk of Recurrent Miscarriages: A Case-Control Study in a South Indian Population
Suryanarayana V, et al.
Reprod Sci 2008 May

Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms
Ramos-Lopez E, et al.
Diabetes Obes Metab 2008 May

 

Diseases of the Skin and Subcutaneous Tissue

Association analysis of IL20RA and IL20RB genes in psoriasis
Kingo K, et al.
Genes Immun 2008 May

 

Diseases of the Musculoskeletal System and Connective Tissue

Interleukin 1 Polymorphisms in Patients with Ankylosing Spondylitis in Korea
Kim TJ, et al.
J Rheumatol 2008 May

Association Between Repeat Length of Exon 1 CAG Microsatellite in the Androgen Receptor and Bone Density in Men is Modulated by Sex Hormone Levels
Stiger F, et al.
Calcif Tissue Int 2008 May

Influence of Interleukin 18 Promoter Polymorphisms in Susceptibility to Kawasaki  Disease in Taiwan
Hsueh KC, et al.
J Rheumatol 2008 May

Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis
Mori S, et al.
J Hum Genet 2008 May

 

Congenital Anomalies

TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate
Reutter H, et al.
J Hum Genet 2008 May

 

Certain Conditions Originating in the Perinatal Period

Serotonin transporter gene variation in sudden infant death syndrome
Opdal SH, et al.
Acta Paediatr 2008 May

 

Symptoms, Signs and Ill-defined Conditions

Analysis of glutathione S-transferase M1 and glutathione S-transferase T1 gene polymorphisms suggests age-related relationships in a northern Italian population
Santovito A, et al.
Arch Toxicol 2008 May

 

 

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Page last reviewed: May 22, 2008 (archived document)
Content Source: National Office of Public Health Genomics