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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 10, 2008
Volume 20, No. 2

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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.


Gene Variant Frequency

Prevalence of beta-Thalassemia Trait and Glucose-6-Phosphate Dehydrogenase Deficiency in Iranian Jews
Karimi M, et al.
Arch Med Res 2008 Feb;39(2):212-4

Familial Hypertrophic Cardiomyopathy Associated with Cardiac beta-Myosin Heavy Chain and Troponin I Mutations
Frazier A, et al.
Pediatr Cardiol 2008 Jan

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1
Miramar MD, et al.
Breast Cancer Res Treat 2008 Jan

 

Infectious and Parasitic Diseases

C-reactive protein mediates the effect of apolipoprotein e on cytomegalovirus infection
Aiello AE, et al.
J Infect Dis 2008 Jan;197(1):34-41

ALOX5 variants associated with susceptibility to human pulmonary tuberculosis
Herb F, et al.
Hum Mol Genet 2008 Jan

Host erythrocyte polymorphisms and exposure to Plasmodium falciparum in Papua New Guinea
Fowkes FJ, et al.
Malar J 2008 Jan;7(1):1

CD209 Genetic Polymorphism and Tuberculosis Disease
Vannberg FO, et al.
PLoS ONE 2008;3(1):e1388

 

Neoplasms

Prevalence of Common HFE and SERPINA1 Mutations in Patients with Hepatocellular Carcinoma in a Moroccan Population
Ezzikouri S, et al.
Arch Med Res 2008 Feb;39(2):236-41

Genetic Polymorphism of VEGF-1154 (A/G) in Laryngeal Squamous Cell Carcinoma
Unal ZN, et al.
Arch Med Res 2008 Feb;39(2):209-11

Frequencies of HLA-DRB1 in Iranian Normal Population and in Patients with Acute Lymphoblastic Leukemia
Yari F, et al.
Arch Med Res 2008 Feb;39(2):205-8

Detection of ATM Gene Mutations in Young Lung Cancer Patients: A Population-based Control Study
Schneider J, et al.
Arch Med Res 2008 Feb;39(2):226-31

The CHEK2 1100delC mutation is not present in Korean patients with breast cancer  cases tested for BRCA1 and BRCA2 mutation
Choi DH, et al.
Breast Cancer Res Treat 2008 Jan

Association of single-nucleotide polymorphisms in the Cell Cycle genes with breast cancer in the British population
Driver KE, et al.
Carcinogenesis 2008 Jan

Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer
Chetrit A, et al.
J Clin Oncol 2008 Jan;26(1):20-5

Epidermal growth factor gene functional polymorphism and the risk of hepatocellular carcinoma in patients with cirrhosis
Tanabe KK, et al.
JAMA 2008 Jan;299(1):53-60

Prognostic Factors for Gefitinib-Treated Postoperative Recurrence in Non-Small Cell Lung Cancer
Okami J, et al.
Oncology 2008 Jan;72(3-4):234-42

Genetic variation in CYP17 and endometrial cancer risk
Gaudet MM, et al.
Hum Genet 2008 Jan

CHEK*1100delC Genotyping for Clinical Assessment of Breast Cancer Risk: Meta-Analyses of 26,000 Patient Cases and 27,000 Controls
Weischer M, et al.
J Clin Oncol 2008 Jan

SNPs in Ultraconserved Elements and Familial Breast Cancer Risk
Yang R, et al.
Carcinogenesis 2008 Jan

Decreased risk of colorectal cancer with the high Natural-Killer (NK)-cell activity NKG2D genotype in Japanese
Furue H, et al.
Carcinogenesis 2008 Jan

One-carbon metabolism-related gene polymorphisms and risk of breast cancer
Suzuki T, et al.
Carcinogenesis 2008 Jan

Vascular endothelial growth factor gene polymorphisms associated with prognosis for patients with colorectal cancer
Kim JG, et al.
Clin Cancer Res 2008 Jan;14(1):62-6

Involvement of interleukin-10 promoter polymorphisms in nonmelanoma skin cancers-a case study in non-caucasian skin cancer patients
Nagano T, et al.
Photochem Photobiol 2008 Jan-2008 Feb;84(1):63-6

Association of GSTM1, GSTT1, and GSTM3 gene polymorphisms and susceptibility to cervical cancer in a North Indian population
Singh H, et al.
Am J Obstet Gynecol 2008 Jan

Both Germ Line and Somatic Genetics of the p53 Pathway Affect Ovarian Cancer Incidence and Survival
Bartel F, et al.
Clin Cancer Res 2008 Jan;14(1):89-96

Role of genetic variant A-204C of cholesterol 7alpha-hydroxylase (CYP7A1) in susceptibility to gallbladder cancer
Srivastava A, et al.
Mol Genet Metab 2008 Jan

RASSF1A polymorphism A133S is associated with early onset breast cancer in BRCA1/2 mutation carriers
Gao B, et al.
Cancer Res 2008 Jan;68(1):22-5

Interactions of Cytokine Gene Polymorphisms in Prostate Cancer Risk
Zabaleta J, et al.
Carcinogenesis 2008 Jan

MMP2 promoter polymorphism (C-1306T) and risk of recurrence in patients with hepatocellular carcinoma after transplantation
Wu LM, et al.
Clin Genet 2008 Jan

 

Endocrine, Nutritional and Metabolic Diseases

Genetic influence in antithrombotic actions of atorvastatin in hypercholesterolaemia
Puccetti L, et al.
Eur J Clin Invest 2008 Jan;38(1):11-6

Genetic investigation of four meiotic genes in women with premature ovarian failure
Mandon-Pepin B, et al.
Eur J Endocrinol 2008 Jan;158(1):107-15

Diseases of the Blood and Blood-Forming Organs Disorders

JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis
Schmitt-Graeff AH, et al.
Haematologica 2008 Jan;93(1):34-40

 

Mental Disorders

Dopamine-beta hydroxylase polymorphism and cocaine addiction
Guindalini C, et al.
Behav Brain Funct 2008 Jan;4(1):1

 

Diseases of the Nervous System and Sense Organs

Attentional control in Parkinson's disease is dependent on COMT val158met genotype
Williams-Gray CH, et al.
Brain 2008 Jan

The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's  disease
Paus S, et al.
Mov Disord 2008 Jan

Comprehensive Analysis of the Candidate Genes CCL2, CCR2, and TLR4 in Age-Related Macular Degeneration
Despriet DD, et al.
Invest Ophthalmol Vis Sci 2008 Jan;49(1):364-71

Profiling of WDR36 Missense Variants in German Patients with Glaucoma
Pasutto F, et al.
Invest Ophthalmol Vis Sci 2008 Jan;49(1):270-4

Assessment of TGIF as a Candidate Gene for Myopia
Pertile KK, et al.
Invest Ophthalmol Vis Sci 2008 Jan;49(1):49-54

 

Diseases of the Circulatory System

Association between a G894T Polymorphism of eNOS Gene and Essential Hypertension  in Hani and Yi Minority Groups of China
Tang W, et al.
Arch Med Res 2008 Feb;39(2):222-5

Platelet receptor P2RY12 haplotypes predict restenosis after percutaneous coronary interventions
Rudez G, et al.
Hum Mutat 2008 Jan

No Association of PLIN Polymorphisms With Hemorrhagic and Ischemic Stroke
Song W, et al.
Stroke 2008 Jan

Common genetic variation in the type A endothelin-1 receptor is associated with ambulatory blood pressure: a family study
Rahman T, et al.
J Hum Hypertens 2008 Jan

MMP-9 haplotypes and carotid artery atherosclerosis: An association study introducing a novel multicolour multiplex RealTime PCR protocol
Rauch I, et al.
Eur J Clin Invest 2008 Jan;38(1):24-33

Polymorphisms in thrombospondin genes and myocardial infarction: a case-control study and a meta-analysis of available evidence
Koch W, et al.
Hum Mol Genet 2008 Jan

Association Between ADAMTS1 Matrix Metalloproteinase Gene Variation, Coronary Heart Disease, and Benefit of Statin Therapy
Sabatine MS, et al.
Arterioscler Thromb Vasc Biol 2008 Jan

Interleukin-6 (IL-6), Tumor Necrosis Factor-alpha (TNF-alpha) Levels and IL-6, TNF-Polymorphisms in Children With Thrombosis
Unal S, et al.
J Pediatr Hematol Oncol 2008 Jan;30(1):26-31

Thrombophilia in young patients with acute myocardial infarction
Celik M, et al.
Saudi Med J 2008 Jan;29(1):48-54

C-Reactive Protein (CRP) Gene Polymorphisms, CRP Levels, and Risk of Incident Coronary Heart Disease in Two Nested Case-Control Studies
Pai JK, et al.
PLoS ONE 2008;3(1):e1395

 

Diseases of the Digestive System

Presence and Significance of Interleukin-1 Polymorphism in Patients Who Present With Acute Coronary Syndrome, Angina, and Chronic Periodontitis: An Epidemiologic Pilot Study
Goteiner D, et al.
J Periodontol 2008 Jan;79(1):138-43

HLA-DQ and Susceptibility to Celiac Disease: Evidence for Gender Differences and  Parent-of-Origin Effects
Megiorni F, et al.
Am J Gastroenterol 2008 Jan

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
Masson E, et al.
Hum Genet 2008 Jan

Cyclooxygenase-2 Gene(-765) single nucleotide polymorphism as a protective factor against periodontitis in Taiwanese
Ho YP, et al.
J Clin Periodontol 2008 Jan;35(1):1-8

 

Diseases of the Genitourinary System

Association of polymorphisms of the MMP-2 and TIMP-2 genes with the risk of endometriosis in North Chinese women
Kang S, et al.
Fertil Steril 2008 Jan

Intron 1 and exon 1 alpha estrogen receptor gene polymorphisms in women with endometriosis
Sato H, et al.
Fertil Steril 2008 Jan

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association of the protein Z intron F G79A gene polymorphism with recurrent pregnancy loss
Dossenbach-Glaninger A, et al.
Fertil Steril 2008 Jan

 

Diseases of the Musculoskeletal System and Connective Tissue

Aspartic acid repeat polymorphism of the Asporin gene with susceptibility to osteoarthritis of the knee in a Korean population
Song JH, et al.
Knee 2008 Jan

Association of polymorphisms in complement component C3 gene with susceptibility  to systemic lupus erythematosus
Miyagawa H, et al.
Rheumatology (Oxford) 2008 Jan

 

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Page last reviewed: January 10, 2008 (archived document)
Content Source: National Office of Public Health Genomics