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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 15, 2007
Volume 18, No. 7

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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

Genetic polymorphisms in MDR1 and CYP3A5 and MDR1 haplotype in mainland Chinese Han, Uygur and Kazakh ethnic groups
Li D, et al.
J Clin Pharm Ther 2007 Feb;32(1):89-95

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
Frederic M, et al.
Mov Disord 2007 Feb

 

Infectious and Parasitic Diseases

Analysis of CD28 and CTLA-4 gene polymorphisms in Turkish patients with Behcet's disease
Gunesacar R, et al.
Int J Immunogenet 2007 Feb;34(1):45-9

 

Neoplasms

Vascular endothelial growth factor gene polymorphisms in ovarian cancer
Polterauer S, et al.
Gynecol Oncol 2007 Feb

Vascular endothelial growth factor gene polymorphisms are associated with prognosis in ovarian cancer
Hefler LA, et al.
Clin Cancer Res 2007 Feb;13(3):898-901

Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators
Majumder M, et al.
Int J Cancer 2007 Feb

Polymorphism of TP53 codon 72 showed no association with breast cancer in Iranian women
Khadang B, et al.
Cancer Genet Cytogenet 2007 Feb;173(1):38-42

Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma
Landi S, et al.
Int J Cancer 2007 Feb

Germline Mutations in the BRCA2 Gene and Susceptibility to Hereditary Prostate Cancer
Agalliu I, et al.
Clin Cancer Res 2007 Feb;13(3):839-43

Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up
Foster C, et al.
Br J Cancer 2007 Feb

A common coding variant in CASP8 is associated with breast cancer risk
Cox A, et al.
Nat Genet 2007 Feb

Thymidylate synthase polymorphisms and colon cancer: Associations with tumor stage, tumor characteristics and survival
Curtin K, et al.
Int J Cancer 2007 Feb

Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis
Hu Z, et al.
Hum Mutat 2007 Feb

Mutational analysis of EGFR and K-RAS in Chinese patients with non-small cell lung cancer
Liu F, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Feb;24(1):31-4

A study on the expression of CASP9 gene and its polymorphism distribution in non-small cell lung cancer
Lou Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Feb;24(1):59-62

Associations of Single Nucleotide Polymorphisms in the Vascular Endothelial Growth Factor Gene with the Characteristics and Prognosis of Renal Cell Carcinomas
Kawai Y, et al.
Eur Urol 2007 Jan

Progesterone receptor (PROGINS) polymorphism and the risk of endometrial cancer development
Junqueira MG, et al.
Int J Gynecol Cancer 2007 Jan-2007 Feb;17(1):229-32

Response to treatment and survival of patients with non-small cell lung cancer undergoing somatic EGFR mutation testing
Sequist LV, et al.
Oncologist 2007 Jan;12(1):90-8

 

Endocrine, Nutritional and Metabolic Diseases

Association of the peroxisome proliferator-activated receptor gamma gene with type 2 diabetes mellitus varies by physical activity among non-Hispanic whites from Colorado
Nelson TL, et al.
Metabolism 2007 Mar;56(3):388-93

Parental smoking impairs vaccine responses in children with atopic genotypes
Baynam G, et al.
J Allergy Clin Immunol 2007 Feb;119(2):366-74

No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents
Muller TD, et al.
Mol Genet Metab 2007 Feb

The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus
Adamson KA, et al.
Int J Immunogenet 2007 Feb;34(1):17-21

Relationship between adiponectin receptor 1 gene -3881T/C variant and glucose metabolism in the Chinese]
Hu C, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Feb;24(1):27-30

Variants in ARHGEF11, a Candidate Gene for the Linkage to Type 2 Diabetes Mellitus on Chromosome 1q, Are Nominally Associated With Insulin Resistance and Type 2 Diabetes Mellitus in Pima Indians
Ma L, et al.
Diabetes 2007 Feb

HLA-DRB1*03 is a susceptibility gene in patients with Graves' disease with and without ophthalmopathy
Yarman S, et al.
Int J Immunogenet 2007 Feb;34(1):23-5

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1
Balsamo A, et al.
Eur J Endocrinol 2007 Feb;156(2):249-56

Modulation of the homocysteine-betaine relationship by methylenetetrahydrofolate reductase 677 C->T genotypes and B-vitamin status in a large scale epidemiological study
Holm PI, et al.
J Clin Endocrinol Metab 2007 Feb

Study on the association between the HLA-DRB1 alleles and type 2 diabetes in Yi nationality of Yunnan
Yang H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Feb;24(1):101-3

FABP2 Ala54Thr polymorphism and diabetes in Chilean elders
Albala C, et al.
Diabetes Res Clin Pract 2007 Feb

Genotype x adiposity interaction linkage analyses reveal a locus on chromosome 1 for lipoprotein-associated phospholipase A2, a marker of inflammation and oxidative stress
Diego VP, et al.
Am J Hum Genet 2007 Jan;80(1):168-77

 

Mental Disorders

Association of ALDH1 Promoter Polymorphisms With Alcohol-Related Phenotypes in Trinidad and Tobago*
Moore S, et al.
J Stud Alcohol Drugs 2007 Mar;68(2):192-6

The fatty acid amide hydrolase C385A (P129T) missense variant in cannabis users: Studies of drug use and dependence in caucasians
Tyndale RF, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Feb

Impact of the Alcohol-Dehydrogenase (ADH) 1C and ADH1B polymorphisms on drinking behavior in nonalcoholic Japanese
Matsuo K, et al.
Hum Mutat 2007 Feb

Brain-derived neurotrophic factor gene C-270T and Val66Met functional polymorphisms and risk of schizophrenia: A moderate-scale population-based study and meta-analysis
Xu MQ, et al.
Schizophr Res 2007 Feb

Monoamine oxidase (MAO) intron 13 polymorphism and platelet MAO-B activity in combat-related posttraumatic stress disorder
Pivac N, et al.
J Affect Disord 2007 Feb

Association of the HTR2C gene and antipsychotic induced weight gain: a meta-analysis
De Luca V, et al.
Int J Neuropsychopharmacol 2007 Feb:1-8

Response of risperidone treatment may be associated with polymorphisms of HTT gene in Chinese schizophrenia patients
Wang L, et al.
Neurosci Lett 2007 Feb

Positive association of the Disrupted-in-Schizophrenia-1 gene (DISC1) with schizophrenia in the Chinese han population
Qu M, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Feb

Meta-analysis of the association of serotonin transporter gene polymorphism with obsessive-compulsive disorder
Lin PY
Prog Neuropsychopharmacol Biol Psychiatry 2007 Jan

An association study between GRIN1, BDNF genes and bipolar disorder
Liu M, et al.
Yi Chuan 2007 Jan;29(1):41-6

The FEZ1 gene shows no association to schizophrenia in Caucasian or African American populations
Hodgkinson CA, et al.
Neuropsychopharmacology 2007 Jan;32(1):190-6

Gene expression in the peripheral leukocytes and association analysis of PDLIM5 gene in schizophrenia
Numata S, et al.
Neurosci Lett 2007 Jan

Association study of serotonin 2A receptor (5-HT2A) and serotonin transporter (5-HTT) gene polymorphisms with schizophrenia
Saiz PA, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2007 Jan

Association between the MnSOD Ala-9Val polymorphism and development of schizophrenia and abnormal involuntary movements in the Xhosa population
Hitzeroth A, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2007 Jan

Leptin and Leptin Receptor Gene Polymorphisms and Increases in Body Mass Index (BMI) from Olanzapine Treatment in Persons with Schizophrenia
Ellingrod VL, et al.
Psychopharmacol Bull 2007 Winter;40(1):57-62

 

 

Diseases of the Nervous System and Sense Organs

Association of alpha-synuclein gene haplotypes with Parkinson's disease
Parsian AJ, et al.
Parkinsonism Relat Disord 2007 Feb

APOE and TBI in a military population: Evidence of a neuropsychological compensatory mechanism? Han SD, et al.
J Neurol Neurosurg Psychiatry 2007 Feb

A Suggestive Association of Fuchs Heterochromic Cyclitis with Cytotoxic T Cell Antigen 4 Gene Polymorphism
Spriewald BM, et al.
Ophthalmic Res 2007 Feb;39(2):116-20

Genetic variants in brain-derived neurotrophic factor associated with Alzheimer's disease
Huang R, et al.
J Med Genet 2007 Feb;44(2):e66

Association analysis of the parkin gene in patients with sporadic Parkinson's disease from a Han population of Sichuan province
Peng R, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Feb;24(1):38-41

EEG alterations in non-demented individuals related to apolipoprotein E genotype and to risk of Alzheimer disease
Ponomareva NV, et al.
Neurobiol Aging 2007 Feb

Mutation screening of AP3M2 in Japanese epilepsy patients
Huang MC, et al.
Brain Dev 2007 Feb

Interaction between Poly(ADP-Ribose) Polymerase 1 and Interleukin 1A Genes Is Associated with Alzheimer's Disease Risk
Infante J, et al.
Dement Geriatr Cogn Disord 2007 Feb;23(4):215-8

The hydroxy-methyl-glutaryl CoA reductase promoter polymorphism is associated with Alzheimer's risk and cognitive deterioration
Porcellini E, et al.
Neurosci Lett 2007 Jan

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
Pelletier V, et al.
Hum Mutat 2007 Jan;28(1):81-91

Variation in optineurin (OPTN) allele frequencies between and within populations
Ayala-Lugo RM, et al.
Mol Vis 2007;13:151-63

 

Diseases of the Circulatory System

Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians
Naushad S, et al.
Blood Coagul Fibrinolysis 2007 Mar;18(2):113-7

Association of genetic variations with nonfatal venous thrombosis in postmenopausal women
Smith NL, et al.
JAMA 2007 Feb;297(5):489-98

Genetic Effects versus Bias for Candidate Polymorphisms in Myocardial Infarction: Case Study and Overview of Large-Scale Evidence
Ntzani EE, et al.
Am J Epidemiol 2007 Feb

Evidence for Association of Polymorphisms in CYP2J2 and Susceptibility to Essential Hypertension
Wu SN, et al.
Ann Hum Genet 2007 Feb

The Factor V Leiden, Prothrombin Gene 20210GA, Methylenetetrahydrofolate Reductase 677CT and Platelet Glycoprotein IIIa 1565TC Mutations in Patients With Acute Ischemic Stroke and Atrial Fibrillation
Berge E, et al.
Stroke 2007 Feb

Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary artery disease
Jia C, et al.
Thromb Res 2007 Feb

Cholesteryl ester transfer protein gene haplotypes, plasma high-density lipoprotein levels and the risk of coronary heart disease
McCaskie PA, et al.
Hum Genet 2007 Feb

Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms
Akagawa H, et al.
Hum Genet 2007 Feb

The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease
Talmud PJ, et al.
Clin Sci (Lond) 2007 Feb

ADA*2 Allele of the Adenosine Deaminase Gene May Protect against Coronary Artery Disease
Safranow K, et al.
Cardiology 2007 Feb;108(4):275-81

Early sign of atherosclerosis in slow coronary flow and relationship with angiotensin-converting enzyme I/D polymorphism
Tanriverdi H, et al.
Heart Vessels 2007 Jan;22(1):1-8

 

Diseases of the Respiratory System

Association of IL12RB1 polymorphisms with susceptibility to and severity of tuberculosis in Japanese: a gene-based association analysis of 21 candidate genes
Kusuhara K, et al.
Int J Immunogenet 2007 Feb;34(1):35-44

Genetic diversity of the IL-4, IL-4 receptor and IL-13 loci in mestizos in the general population and in patients with asthma from three subpopulations in Mexico
Lopez KI, et al.
Int J Immunogenet 2007 Feb;34(1):27-33

Study on the association of single nucleotide polymorphisms and haplotypes of GPR154 gene with allergic asthma in Han nationality in Hubei Chinese population
Zhu H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Feb;24(1):48-51

SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population
Babb C, et al.
Hum Genet 2007 Feb

The FcgammaRIIa polymorphism in Turkish children with asthma bronchial and allergic rhinitis
Gulen F, et al.
Clin Biochem 2007 Jan

 

Diseases of the Digestive System

Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern Europe
Van Limbergen J, et al.
Inflamm Bowel Dis 2007 Feb

Interleukin-6 expression and gene polymorphism are associated with severity of periodontal disease in a sample of Brazilian individuals
Moreira PR, et al.
Clin Exp Immunol 2007 Feb

 

Diseases of the Genitourinary System

Polymorphism of the follistatin gene in polycystic ovary syndrome
Jones MR, et al.
Mol Hum Reprod 2007 Feb

Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities
Watanabe M, et al.
Hum Reprod 2007 Feb

Association of Low-Grade Inflammation with Nephropathy in Type 2 Diabetic Patients: Role of Elevated CRP-Levels and 2 Different Gene-Polymorphisms of Proinflammatory Cytokines
Abrahamian H, et al.
Exp Clin Endocrinol Diabetes 2007 Jan;115(1):38-41

 

Complications of Pregnancy, Childbirth, and the Puerperium

Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample
Kivinen K, et al.
Eur J Hum Genet 2007 Feb

Association of genetic polymorphisms in endothelial nitric oxide osynthase 3 gene with recurrent early spontaneous abortion
Fan W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Feb;24(1):23-6

 

Diseases of the Musculoskeletal System and Connective Tissue

IGF-II Gene Region Polymorphisms Related to Exertional Muscle Damage
Devaney JM, et al.
J Appl Physiol 2007 Feb

The H63D mutation in the HFE gene predisposes to arthralgia, chondrocalcinosis, and osteoarthritis
Alizadeh BZ, et al.
Ann Rheum Dis 2007 Feb

Exploratory analysis of four polymorphisms in human GGH and FPGS genes and their effect in methotrexate-treated rheumatoid arthritis patients
van der Straaten R, et al.
Pharmacogenomics 2007 Feb;8(2):141-50

Association study of hypoxia inducible factor 1alpha (HIF1alpha) with osteonecrosis of femoral head in a Korean population
Hong JM, et al.
Osteoarthritis Cartilage 2007 Feb

IkappaBalpha promoter polymorphisms in patients with rheumatoid arthritis
Lin CH, et al.
Int J Immunogenet 2007 Feb;34(1):51-4

Association of the VDR Translation Start Site Polymorphism and Fracture Risk in Older Women
Moffett S, et al.
J Bone Miner Res 2007 Feb

 

Symptoms, Signs and Ill-defined Conditions

A cross-sectional study of self-reported chemical-related sensitivity is associated with gene variants of drug metabolizing enzymes
Schnakenberg E, et al.
Environ Health 2007 Feb;6(1):6

Distribution of alcohol-metabolizing enzyme genotypes in trauma patients with excessive alcohol consumption in the emergency department
Tseng YM, et al.
Clin Biochem 2007 Jan

 

Injury and Poisoning

A case-control study of GST polymorphisms and arsenic related skin lesions
Mc Carty KM, et al.
Environ Health 2007 Feb;6(1):5

 

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Page last reviewed: February 15, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics