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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 10, 2008
Volume 21, No. 2

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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

Global pharmacogenetics: genetic substructure of Eurasian populations and its effect on variants of drug-metabolizing enzymes
Makeeva O, et al.
Pharmacogenomics 2008 Jul;9(7):847-68

 

Infectious and Parasitic Diseases

Central Role of Reverting Mutations in HLA Associations with HIV Viral Setpoint
Matthews PC, et al.
J Virol 2008 Jul

An age-dependent association of mannose-binding lectin-2 genetic variants on HIV-1-related disease in children
Singh KK, et al.
J Allergy Clin Immunol 2008 Jul;122(1):173-80.e2

A Functional Toll-Like Receptor 8 Variant Is Associated with HIV Disease Restriction
Oh DY, et al.
J Infect Dis 2008 Jul

Integrating Host Genomics with Surveillance for Invasive Bacterial Diseases
Crawford DC, et al.
Emerg Infect Dis 2008 Jul;14(7):1138-40

 

Neoplasms

Polymorphisms of selected Xenobiotic Genes contribute to the development of Papillary Thyroid Cancer susceptibility in Middle Eastern population
Siraj AK, et al.
BMC Med Genet 2008 Jul;9(1):61

Non-BAC component but not epidermal growth factor receptor gene mutation is associated with poor outcomes in small adenocarcinoma of the lung
Kobayashi N, et al.
J Thorac Oncol 2008 Jul;3(7):704-10

The interferon gamma receptor 1 (IFNGR1) -56C/T gene polymorphism is associated with increased risk of early gastric carcinoma
Canedo P, et al.
Gut 2008 Jul

Mutations in the LKB1 tumour suppressor are frequently detected in tumours from Caucasian but not Asian lung cancer patients
Koivunen JP, et al.
Br J Cancer 2008 Jul

Increased Prevalence of EGFR-Mutant Lung Cancer in Women and in East Asian Populations: Analysis of Estrogen-Related Polymorphisms
Bell DW, et al.
Clin Cancer Res 2008 Jul;14(13):4079-84

Functional Variants of the NEIL1 and NEIL2 Genes and Risk and Progression of Squamous Cell Carcinoma of the Oral Cavity and Oropharynx
Zhai X, et al.
Clin Cancer Res 2008 Jul;14(13):4345-52

UGT1A1(*)28 genotype and irinotecan dosage in patients with metastatic colorectal cancer: a Dutch Colorectal Cancer Group study
Kweekel DM, et al.
Br J Cancer 2008 Jul

IGF-1, IGFBP-1, and IGFBP-3 polymorphisms predict circulating IGF levels but not  breast cancer risk: findings from the Breast and Prostate Cancer Cohort Consortium (BPC3)
Patel AV, et al.
PLoS ONE 2008;3(7):e2578

 

Endocrine, Nutritional and Metabolic Diseases

Association Analysis of KLF11 Variants with Type 2 Diabetes in Pima Indians
Ma L, et al.
J Clin Endocrinol Metab 2008 Jul

Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency
Skinningsrud B, et al.
J Clin Endocrinol Metab 2008 Jul

Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk
Sanghera DK, et al.
BMC Med Genet 2008 Jul;9(1):59

FTO variants are associated with obesity in the Chinese and Malay populations in  Singapore
Tan JT, et al.
Diabetes 2008 Jul

HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study
Pankow JS, et al.
Transl Res 2008 Jul;152(1):3-10

Polygenic determinants of severe hypertriglyceridemia
Wang J, et al.
Hum Mol Genet 2008 Jul

Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 Genes Confer Risk of Type 2 Diabetes Independently of BMI in the German KORA Studies
Herder C, et al.
Horm Metab Res 2008 Jul

Common nonsynonymous variants in PCSK1 confer risk of obesity
Benzinou M, et al.
Nat Genet 2008 Jul

Genetic variants in the upstream stimulatory factor 1 (USF1) gene are associated  with LDL cholesterol levels and incident T2DM in women: results from the MONICA/KORA Augsburg case-cohort study, 1984-2002
Holzapfel C, et al.
Eur J Endocrinol 2008 Jul

Apolipoprotein E polymorphism in normal Han Chinese population: frequency and effect on lipid parameters
Liang S, et al.
Mol Biol Rep 2008 Jul

HLADQB105 Association with Hashimotos Thyroiditis in Children of Northern Greek Origin
Giza S
Indian Pediatr 2008 Jun;45(6):493-6

 

Mental Disorders

Genetic variants in FKBP5 affecting response to antidepressant drug treatment
Kirchheiner J, et al.
Pharmacogenomics 2008 Jul;9(7):841-6

Effects of brain-derived neurotrophic factor-catecholamine-O-methyltransferase gene interaction on schizophrenic symptoms
Han DH, et al.
Neuroreport 2008 Jul;19(11):1155-8

Association study of wnt signaling pathway genes in bipolar disorder
Zandi PP, et al.
Arch Gen Psychiatry 2008 Jul;65(7):785-93

Nicotinic acetylcholine receptor {beta}2 subunit gene implicated in a systems-based candidate gene study of smoking cessation
Conti DV, et al.
Hum Mol Genet 2008 Jul

Relation between CYP2D6 phenotype and genotype and personality in healthy volunteers
Gonzalez I, et al.
Pharmacogenomics 2008 Jul;9(7):833-40

The GABA transporter 1 (SLC6A1): a novel candidate gene for anxiety disorders
Thoeringer CK, et al.
J Neural Transm 2008 Jul

Interaction between interleukin-1beta -31T/C gene polymorphism and drinking and smoking habits on the risk of hepatocellular carcinoma among Japanese
Sakamoto T, et al.
Cancer Lett 2008 Jul

Association of Polymorphism (Val66Met) of Brain-Derived Neurotrophic Factor with  Suicide Attempts in Depressed Patients
Sarchiapone M, et al.
Neuropsychobiology 2008 Jul;57(3):139-45

Cannabinoid receptor 1 gene association with nicotine dependence
Chen X, et al.
Arch Gen Psychiatry 2008 Jul;65(7):816-23

Systematic analysis of glutamatergic neurotransmission genes in alcohol dependence and adolescent risky drinking behavior
Schumann G, et al.
Arch Gen Psychiatry 2008 Jul;65(7):826-38

No genetic association between NCAM1 gene polymorphisms and schizophrenia in the  Chinese population
Xu Z, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2008 Jun

Analysis of BDNF Val66Met allele-specific mRNA levels in bipolar disorder
De Luca V, et al.
Neurosci Lett 2008 Jun

 

Diseases of the Nervous System and Sense Organs

The RELN Locus in Alzheimer's Disease
Seripa D, et al.
J Alzheimers Dis 2008 Jul;14(3):335-44

The Genetics of Alzheimer's Disease in Brazil: 10 Years of Analysis in a Unique Population
Oliveira JR, et al.
J Mol Neurosci 2008 Jul

APOE genotype is associated with left-handedness and visuospatial skills in children
Bloss CS, et al.
Neurobiol Aging 2008 Jul

Cerebellar {alpha}-synuclein levels are decreased in Parkinson's disease and do not correlate with SNCA polymorphisms associated with disease in a Swedish material
Westerlund M, et al.
FASEB J 2008 Jul

Genetic risk factors and markers for Alzheimer's disease and/or depression in the VITA study
Grunblatt E, et al.
J Psychiatr Res 2008 Jul

Gene-gene interaction between heme oxygenase-1 and liver X receptor-beta and Alzheimer's disease risk
Infante J, et al.
Neurobiol Aging 2008 Jun

 

Diseases of the Circulatory System

Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia
van der Net JB, et al.
Eur Heart J 2008 Jul

Assessment of Genetic Risk Factors for Thoracic Aortic Aneurysm in Hypertensive Patients
Kato K, et al.
Am J Hypertens 2008 Jul

Effects of AGTR1 A1166C Gene Polymorphism in Patients with Heart Failure Treated  with Candesartan (July/August)
de Denus S, et al.
Ann Pharmacother 2008 Jul

Identification of SNP markers for common CNV regions and association analysis of  risk of subarachnoid aneurysmal hemorrhage in Japanese population
Bae JS, et al.
Biochem Biophys Res Commun 2008 Jul

Polymorphisms of the tumor necrosis factor-alpha (TNF) and the TNF-alpha converting enzyme (TACE/ADAM17) genes in relation to cardiovascular mortality: the AtheroGene study
Morange PE, et al.
J Mol Med 2008 Jul

Association of platelet-derived growth factor-D gene polymorphism with ischemic stroke in a Chinese case-control study
Han SH, et al.
Blood Coagul Fibrinolysis 2008 Jul;19(5):415-9

Tissue factor pathway inhibitor relates to fibrin degradation in patients with acute deep venous thrombosis
Sidelmann JJ, et al.
Blood Coagul Fibrinolysis 2008 Jul;19(5):405-9

High-producing MBL2 genotypes increase the risk of acute and chronic carditis in  patients with history of rheumatic fever
Schafranski MD, et al.
Mol Immunol 2008 Jul

Complement factor H Y402H polymorphism, plasma concentration and risk of coronary artery disease
Qian Q, et al.
Mol Biol Rep 2008 Jul

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients
Rosa A, et al.
BMC Med Genet 2008 Jul;9(1):57

The endothelin-1 G5665T polymorphism impacts transplant-free survival for single  ventricle patients
Kirshbom PM, et al.
J Thorac Cardiovasc Surg 2008 Jul;136(1):117-22

The coagulation factor V Leiden, MTHFRC677T variant and eNOS 4ab polymorphism in  young Chinese population with ischemic stroke
Shi C, et al.
Clin Chim Acta 2008 Jun

The BDNF Val66Met polymorphism affects amygdala activity in response to emotional stimuli: Evidence from a genetic imaging study
Montag C, et al.
Neuroimage 2008 Jun

The influence of smoking and homocysteine on subclinical atherosclerosis is modified by the connexin37 C1019T polymorphism - The Cardiovascular Risk in Young Finns Study
Collings A, et al.
Clin Chem Lab Med 2008 Jun

 

Diseases of the Respiratory System

Association between microsatellite polymorphisms in intron II of the human Toll-like receptor 2 gene and nontuberculous mycobacterial lung disease in a Korean population
Yim JJ, et al.
Hum Immunol 2008 Jul

Genetic association of acidic mammalian chitinase with atopic asthma and serum total IgE levels
Chatterjee R, et al.
J Allergy Clin Immunol 2008 Jul;122(1):202-8.e7

 

Diseases of the Digestive System

Disease Behavior in Children with Crohn's Disease: The Effect of Disease Duration, Ethnicity, Genotype, and Phenotype
Shaoul R, et al.
Dig Dis Sci 2008 Jul

Polymorphisms of the TPMT Gene in the Czech Healthy Population and Patients with  Inflammatory Bowel Disease
Slanar O, et al.
Nucleosides Nucleotides Nucleic Acids 2008 Jun;27(6):835-8

 

Complications of Pregnancy, Childbirth, and the Puerperium

Studies on the Compatibility of HLA-Class II Alleles in Patient Couples with Severe Pre-Eclampsia Using PCR-RFLP Methods
Ooki I, et al.
Am J Reprod Immunol 2008 Jul;60(1):75-84

 

Diseases of the Musculoskeletal System and Connective Tissue

Increase levels of apo-A1 and apo B are associated in knee osteoarthritis: lack of association with VEGF-460 T/C and +405 C/G polymorphisms
Sanchez-Enriquez S, et al.
Rheumatol Int 2008 Jul

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density
Zhang H, et al.
Osteoporos Int 2008 Jul

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density
Zhang H, et al.
Osteoporos Int 2008 Jul

CCL genes in multiple sclerosis and systemic lupus erythematosus
Vyshkina T, et al.
J Neuroimmunol 2008 Jul

IkBalpha Promoter Polymorphisms in Patients with Primary Sjogren's Syndrome
Ou TT, et al.
J Clin Immunol 2008 Jul

The TRAF1/C5 region is a risk factor for polyarthritis in Juvenile Idiopathic Arthritis
Albers HM, et al.
Ann Rheum Dis 2008 Jul

Genotypes and clinical aspects associated with bone mineral density in Argentine  postmenopausal women
Perez A, et al.
J Bone Miner Metab 2008 Jul;26(4):358-65

Genetic determinants of methotrexate toxicity in rheumatoid arthritis patients: a study of polymorphisms affecting methotrexate transport and folate metabolism
Bohanec Grabar P, et al.
Eur J Clin Pharmacol 2008 Jul

The rate and significance of Mediterranean fever gene mutations in patients with  ankylosing spondylitis: a three-month, longitudinal clinical study
Cinar M, et al.
Rheumatol Int 2008 Jul

Influence of Functional Interleukin 10/Tumor Necrosis Factor-alpha Polymorphisms  on Interferon-alpha, IL-10, and Regulatory T Cell Population in Patients with Systemic Lupus Erythematosus Receiving Antimalarial Treatment
Lopez P, et al.
J Rheumatol 2008 Jun

Influence of Functional Interleukin 10/Tumor Necrosis Factor-alpha Polymorphisms  on Interferon-alpha, IL-10, and Regulatory T Cell Population in Patients with Systemic Lupus Erythematosus Receiving Antimalarial Treatment
Lopez P, et al.
J Rheumatol 2008 Jun

 

Certain Conditions Originating in the Perinatal Period

Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome
Otagiri T, et al.
Pediatr Res 2008 Jun

 

Injury and Poisoning

Modulation of the GSTT1 activity by the GSTM1 phenotype in a sample of Italian farm-workers
Fuciarelli M, et al.
Arch Toxicol 2008 Jul

Polymorphisms in metabolic GSTP1 and DNA-repair XRCC1 genes with an increased risk of DNA damage in pesticide-exposed fruit growers
Wong RH, et al.
Mutat Res 2008 Jun

 

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