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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
November 29, 2007
Volume 19, 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.



Gene Variant Frequency

Mutational analysis of FLASH and PTPN13 genes in colorectal carcinomas
Jeong EG, et al.
Pathology 2008 Feb;40(1):31-4

HLA-DPB1, -DRB1, and -DQB1 polymorphism defined in Ewenki ethnic minority of China Inner Mongolia Autonomous Region
Su X, et al.
Int J Immunogenet 2007 Dec;34(6):435-40

The polymorphism and haplotype analysis of HLA-A, -B and -DRB1 genes of population in Jiangsu province of China
Miao KR, et al.
Int J Immunogenet 2007 Dec;34(6):419-24

 

Infectious and Parasitic Diseases

Fc{gamma}RIIa Genotype Predicts Progression of HIV Infection
Forthal DN, et al.
J Immunol 2007 Dec;179(11):7916-23

NAT2*6A, a haplotype of the N-acetyltransferase 2 gene, is an important biomarker for risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis
Higuchi N, et al.
World J Gastroenterol 2007 Dec;13(45):6003-8

Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria
Fry AE, et al.
Hum Mol Genet 2007 Nov

Association of transforming growth factor-beta1 gene polymorphism in the development of Epstein-Barr virus-related hematologic diseases
Hatta K, et al.
Haematologica 2007 Nov;92(11):1470-4

 

Neoplasms

CTLA-4 gene promoter and exon 1 polymorphisms in Iranian patients with gastric and colorectal cancers
Hadinia A, et al.
J Gastroenterol Hepatol 2007 Dec;22(12):2283-7

DNA methyltransferase 3B promoter polymorphism and its susceptibility to primary  hepatocellular carcinoma in the Chinese Han nationality population: A case-control study
Wu Y & Lin JS
World J Gastroenterol 2007 Dec;13(45):6082-6

Should TPMT genotype and activity be used to monitor 6-mercaptopurine treatment in children with acute lymphoblastic leukaemia?
Fakhoury M, et al.
J Clin Pharm Ther 2007 Dec;32(6):633-9

CYP17 Genetic Variation and Risk of Breast and Prostate Cancer from the National  Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)
Setiawan VW, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2237-46

DNA Repair Single-Nucleotide Polymorphisms in Colorectal Cancer and their Role as Modifiers of the Effect of Cigarette Smoking and Alcohol in the Singapore Chinese Health Study
Stern MC, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2363-72

An International Case-Control Study of Interleukin-4R{alpha}, Interleukin-13, and Cyclooxygenase-2 Polymorphisms and Glioblastoma Risk
Schwartzbaum JA, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2448-54

Carcinogenetic impact of ADH1B and ALDH2 genes on squamous cell carcinoma risk of the esophagus with regard to the consumption of alcohol, tobacco and betel quid
Lee CH, et al.
Int J Cancer 2007 Nov

Prostate Cancer Risk and ESR1 TA, ESR2 CA Repeat Polymorphisms
McIntyre MH, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2233-6

ERCC1 genotype and phenotype in epithelial ovarian cancer identify patients likely to benefit from paclitaxel treatment in addition to platinum-based therapy
Smith S, et al.
J Clin Oncol 2007 Nov;25(33):5172-9

NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans
Hooker S, et al.
Prostate Cancer Prostatic Dis 2007 Nov

Longitudinal Study of Insulin-like Growth Factor, Insulin-like Growth Factor Binding Protein-3, and their Polymorphisms: Risk of Neoplastic Progression in Barrett's Esophagus
Siahpush SH, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2387-95

Matrix Metalloproteinase Single-Nucleotide Polymorphisms and Haplotypes Predict Breast Cancer Progression
Hughes S, et al.
Clin Cancer Res 2007 Nov;13(22):6673-80

Prognostic Significance of p53 and X-ray Repair Cross-complementing Group 1 Polymorphisms on Prostate-Specific Antigen Recurrence in Prostate Cancer Post Radical Prostatectomy
Huang SP, et al.
Clin Cancer Res 2007 Nov;13(22):6632-8

Significance of Genetic Polymorphisms at Multiple Loci of CYP2E1 in the Risk of Development of Childhood Acute Lymphoblastic Leukemia
Ulusoy G, et al.
Oncology 2007 Nov;72(1-2):125-31

Polymorphisms in nonhomologous end-joining genes associated with breast cancer risk and chromosomal radiosensitivity
Willems P, et al.
Genes Chromosomes Cancer 2007 Nov

Haplotype of N-acetyltransferase 1 and 2 and risk of pancreatic cancer
Jiao L, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2379-86

Classification of ambiguous mutations in DNA mismatch repair genes identified in  a population-based study of colorectal cancer
Barnetson RA, et al.
Hum Mutat 2007 Nov

Polymorphisms in the insulin like growth factor 1 and IGF binding protein 3 genes and risk of colorectal cancer
Pechlivanis S, et al.
Cancer Detect Prev 2007 Nov

Allergies, variants in IL-4 and IL-4Ralpha genes, and risk of pancreatic cancer
Olson SH, et al.
Cancer Detect Prev 2007 Nov

Polymorphic variants in PTGS2 and prostate cancer risk: results from two large nested case-control studies
Danforth KN, et al.
Carcinogenesis 2007 Nov

The association between N-acetyltransferase 2 gene polymorphisms and pancreatic cancer
Ayaz L, et al.
Cell Biochem Funct 2007 Nov

Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
Talseth BA, et al.
Int J Cancer 2007 Nov

The Roles of Serum Leptin Concentration and Polymorphism in Leptin Receptor Gene  at Codon 109 in Breast Cancer
Liu CL, et al.
Oncology 2007 Nov;72(1-2):75-81

Sequence Variation in Proprotein Convertase Subtilisin/Kexin Type 9 Serine Protease Gene, Low LDL Cholesterol, and Cancer Incidence
Folsom AR, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2455-8

MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent
Yarden RI, et al.
Breast Cancer Res Treat 2007 Nov

Common Genetic Variation in GATA-Binding Protein 3 and Differential Susceptibility to Breast Cancer by Estrogen Receptor {alpha} Tumor Status
Garcia-Closas M, et al.
Cancer Epidemiol Biomarkers Prev 2007 Nov;16(11):2269-75

Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes
Schroth W, et al.
J Clin Oncol 2007 Nov;25(33):5187-93

The NQO1 C609T polymorphism is associated with risk of secondary malignant neoplasms after treatment for childhood acute lymphoblastic leukemia: a matched-pair analysis from the ALL-BFM study group
Stanulla M, et al.
Haematologica 2007 Nov;92(11):1581-2

Impact of interleukin-10 polymorphisms ( 1082 and 3575) on the survival of patients with lymphoid neoplasms
Domingo-Domenech E, et al.
Haematologica 2007 Nov;92(11):1475-81

No association between SNP309 promoter polymorphism in the MDM2 and cervical cancer in a study from northeastern Brazil
de Vasconcellos Meissner R, et al.
Cancer Detect Prev 2007 Nov

Impact of polymorphism in IL-1RA gene on the risk of cervical cancer
Kordi Tamandani DM, et al.
Arch Gynecol Obstet 2007 Nov

Prognostic and predictive importance of p53 and RAS for adjuvant chemotherapy in  non small-cell lung cancer
Tsao MS, et al.
J Clin Oncol 2007 Nov;25(33):5240-7

 

Endocrine, Nutritional and Metabolic Diseases

Sex-specific association of the human PTPN22 1858T-allele with type 1 diabetes
Nielsen C, et al.
Int J Immunogenet 2007 Dec;34(6):469-73

Gene-gene interactions between CYP2B6 and CYP2A6 in nicotine metabolism
Ring HZ, et al.
Pharmacogenet Genomics 2007 Dec;17(12):1007-15

The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk  of type 2 diabetes
Sparso T, et al.
Diabetologia 2007 Nov

Evidence of an influence of a polymorphism near the INSIG2 on weight loss during  a lifestyle intervention in obese children and adolescents
Reinehr T, et al.
Diabetes 2007 Nov

Association of the ATP-binding cassette transporter A1 R230C Variant with Early-Onset Type 2 Diabetes in the Mexican Population
Villarreal-Molina MT, et al.
Diabetes 2007 Nov

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity onset diabetes of the young (MODY) 3
Bellanne-Chantelot C, et al.
Diabetes 2007 Nov

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
Nejentsev S, et al.
Nature 2007 Nov

Screening for FOXL2 gene mutations in women with premature ovarian failure: an Indian experience
Chatterjee S, et al.
Reprod Biomed Online 2007 Nov;15(5):554-60

The A946T polymorphism in the interferon induced helicase gene does not confer susceptibility to Graves' disease in Chinese population
Zhao ZF, et al.
Endocrine 2007 Nov

The association between vascular function-related genes and age at natural menopause
van Disseldorp J, et al.
Menopause 2007 Nov

 

Mental Disorders

A Haplotype Analysis of CYP2E1 Polymorphisms in Relation to Alcoholic Phenotypes  in Mexican Americans
Yang M, et al.
Alcohol Clin Exp Res 2007 Dec;31(12):1991-2000

ADHD Candidate Gene Study in a Population-Based Birth Cohort: Association with DBH and DRD2
Nyman ES, et al.
J Am Acad Child Adolesc Psychiatry 2007 Dec;46(12):1614-21

Allelic association of G72/G30 with schizophrenia and bipolar disorder: A comprehensive meta-analysis
Shi J, et al.
Schizophr Res 2007 Nov

Neuregulin 1 Genotype and Schizophrenia
Munafo MR, et al.
Schizophr Bull 2007 Nov

Strong evidence that GNB1L is associated with schizophrenia
Williams NM, et al.
Hum Mol Genet 2007 Nov

 

Diseases of the Nervous System and Sense Organs

NSAID use and dementia risk in the Cardiovascular Health Study. Role of APOE and  NSAID type
Szekely CA, et al.
Neurology 2007 Nov

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Buxbaum JD, et al.
BMC Med Genet 2007 Nov;8(1):68

Pattern and Progression of Cognitive Decline in Alzheimer's Disease: Role of Premorbid Intelligence and ApoE Genotype
Bracco L, et al.
Dement Geriatr Cogn Disord 2007 Nov;24(6):483-91

No Relation between Angiotensin-Converting Enzyme Gene Polymorphism and Pseudoexfoliation
Tekeli O, et al.
Ophthalmic Res 2006 Nov;40(1):32-4

Diseases of the Circulatory System

A985G Polymorphism of the Endothelin-2 Gene and Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy
Nagai T, et al.
Circ J 2007 Dec;71(12):1932-6

Matrix metalloproteinase circulating levels, genetic polymorphisms, and susceptibility to acute myocardial infarction among patients with coronary artery disease
Hlatky MA, et al.
Am Heart J 2007 Dec;154(6):1043-51

Correlation of angiotensin-converting enzyme 2 gene polymorphisms with stage 2 hypertension in Han Chinese
Niu W, et al.
Transl Res 2007 Dec;150(6):374-80

Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease
Hlatky MA, et al.
Am Heart J 2007 Dec;154(6):1035-42

Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction
Knowles JW, et al.
Am Heart J 2007 Dec;154(6):1052-8

Low complement C4B gene copy number predicts short-term mortality after acute myocardial infarction
Blasko B, et al.
Int Immunol 2007 Nov

High-Density Association Study and Nomination of Susceptibility Genes for Hypertension in the Japanese National Project
Kato N, et al.
Hum Mol Genet 2007 Nov

Interaction of angiotensin-converting enzyme and apolipoprotein E gene polymorphisms in ischemic stroke involving large-vessel disease
Saidi S, et al.
J Thromb Thrombolysis 2007 Nov

Coagulation factor XIII gene variation, oral contraceptives and risk of ischemic  stroke
Pruissen DM, et al.
Blood 2007 Nov

 

Diseases of the Respiratory System

CD14 C(-159)T Polymorphism Is a Risk Factor for Development of Pulmonary Tuberculosis
Rosas-Taraco AG, et al.
J Infect Dis 2007 Dec;196(11):1698-706

Alpha 1 antitrypsin polymorphism in the tunisian population with special reference to pulmonary disease
Denden S, et al.
Pathol Biol (Paris) 2007 Nov

TBXA2R gene polymorphism and responsiveness to leukotriene receptor antagonist in children with asthma
Kim JH, et al.
Clin Exp Allergy 2007 Nov

 

Diseases of the Digestive System

Association of TLR2 gene Arg753Gln polymorphism with urinary tract infection in children
Tabel Y, et al.
Int J Immunogenet 2007 Dec;34(6):399-405

Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children
Seyhan S, et al.
Int J Urol 2007 Dec;14(12):1060-2

Effect of a thrombin receptor (protease-activated receptor 1, PAR-1) gene polymorphism in chronic hepatitis C liver fibrosis
Martinelli A, et al.
J Gastroenterol Hepatol 2007 Nov

 

Diseases of the Genitourinary System

Ovulatory Response to Treatment of Polycystic Ovary Syndrome is Associated with a Polymorphism in the STK11 Gene
Legro RS, et al.
J Clin Endocrinol Metab 2007 Nov

 

Complications of Pregnancy, Childbirth, and the Puerperium

The GOAL study: a prospective examination of the impact of factor V Leiden and ABO(H) blood groups on haemorrhagic and thrombotic pregnancy outcomes
Clark P, et al.
Br J Haematol 2007 Nov

 

Diseases of the Skin and Subcutaneous Tissue

The angiotensin-converting enzyme insertion/deletion and the endothelin -134 3A/4A gene polymorphisms in patients with chronic plaque psoriasis
Weger W, et al.
Exp Dermatol 2007 Dec;16(12):993-8

The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata
Betz RC, et al.
Br J Dermatol 2007 Nov

 

Diseases of the Musculoskeletal System and Connective Tissue

Genetic susceptibility to SLE is associated with TNF-alpha gene polymorphism -863, but not -308 and -238, in Thai population
Hirankarn N, et al.
Int J Immunogenet 2007 Dec;34(6):425-30

Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to  the development of rheumatoid arthritis
Vander Cruyssen B, et al.
Rheumatology (Oxford) 2007 Dec;46(12):1792-5

HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis scleroderma overlap
Wedderburn LR, et al.
Rheumatology (Oxford) 2007 Dec;46(12):1786-91

Large-scale association study between two coding LRP5 gene polymorphisms and bone phenotypes and fractures in men
Grundberg E, et al.
Osteoporos Int 2007 Nov

Association Between IL-6 and MMP-3 Gene Polymorphisms and Adolescent Idiopathic Scoliosis: A Case-control Study
Aulisa L, et al.
Spine 2007 Nov;32(24):2700-2

Vitamin D-binding protein gene microsatellite polymorphism influences BMD and risk of fractures in men
Al-Oanzi ZH, et al.
Osteoporos Int 2007 Nov

Genetic variations in the serotonin 5-HT2A receptor gene (HTR2A) are associated with rheumatoid arthritis
Kling A, et al.
Ann Rheum Dis 2007 Nov

 

Certain Conditions Originating in the Perinatal Period

Growth Hormone Receptor d3 polymorphism in Dutch patients with MPHD and IGHD born small or appropriate for gestational age
de Graaff LC, et al.
Clin Endocrinol (Oxf) 2007 Nov

 

Injury and Poisoning

Association between a beta(2)-adrenergic receptor polymorphism and elite endurance performance
Wolfarth B, et al.
Metabolism 2007 Dec;56(12):1649-51

 

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Page last reviewed: November 29, 2007 (archived document)
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