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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
December 21, 2006
Volume 17, No. 24

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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

Ethnic differences in the distribution of CYP3A5 gene polymorphisms
Quaranta S, et al.
Xenobiotica 2006 Dec;36(12):1191-200

Gene frequencies of human platelet alloantigens in Bahraini Arabs
Al-Subaie AM, et al.
Am J Hematol 2006 Dec

 

Infectious and Parasitic Diseases

Association of immune responses to mycobacterium tuberculosis peptide antigens with host genetic factors
Saad AH, et al.
J Egypt Soc Parasitol 2006 Dec;36(3):889-910

Influence of candidate susceptibility genes on tuberculosis in a high endemic region
Soborg C, et al.
Mol Immunol 2006 Dec

Distribution of the HIV resistance CCR5-Delta32 allele among Egyptians and Syrians
Salem AH & Batzer MA
Mutat Res 2006 Dec

           

Neoplasms

No association between dinucleotide repeat polymorphism in intron 1 of the epidermal growth factor receptor gene EGFR and risk of lung cancer
Lee SJ, et al.
Cancer Genet Cytogenet 2007 Jan;172(1):29-32

The 61 A/G EGF polymorphism is functional but is neither a prognostic marker nor a risk factor for glioblastoma
Vauleon E, et al.
Cancer Genet Cytogenet 2007 Jan;172(1):33-7

TSP1 and MMP9 genetic variants in sporadic prostate cancer
Sfar S, et al.
Cancer Genet Cytogenet 2007 Jan;172(1):38-44

A Multicenter Study of Cancer Incidence in CHEK2 1100delC Mutation Carriers
Thompson D, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2542-5

TNF-alpha Promoter Single Nucleotide Polymorphisms in Gastroenteropancreatic Neuroendocrine Tumors
Berkovic M, et al.
Neuroendocrinology 2006 Dec

Correlation between gene polymorphisms of Wnt signalling pathway related components and risk of gastric carcinoma: a case-control study
Zheng H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Dec;23(6):647-51

An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients
Li CF, et al.
Fam Cancer 2006 Dec

Improved survival in BRCA2 carriers with ovarian cancer
Pal T, et al.
Fam Cancer 2006 Dec

CYP1A1 and GSTP1 polymorphisms in an oral cancer case-control study
Leichsenring A, et al.
Braz J Med Biol Res 2006 Dec;39(12):1569-74

Common polymorphisms in TP53 and MDM2 and the relationship to TP53 mutations and clinical outcomes in women with ovarian and peritoneal carcinomas
Galic V, et al.
Genes Chromosomes Cancer 2006 Dec

Nonsynonymous polymorphisms in genes in the one-carbon metabolism pathway and associations with colorectal cancer
Koushik A, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2408-17

Aryl hydrocarbon receptor gene polymorphisms affect lung cancer risk
Kim JH, et al.
Lung Cancer 2006 Dec

Effect of ATM, CHEK2 and ERBB2 tagSNPs and haplotypes on endometrial cancer risk
Einarsdottir K, et al.
Hum Mol Genet 2006 Dec

Polymorphisms in the DNA Repair Genes XPC, XPD, and XPG and Risk of Cutaneous Melanoma: a Case-Control Analysis
Li C, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2526-32

Lead, genetic susceptibility, and risk of adult brain tumors
Rajaraman P, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2514-20

Prostate Cancer Risk in Relation to Selected Genetic Polymorphisms in Insulin-like Growth Factor-I, Insulin-like Growth Factor Binding Protein-3, and Insulin-like Growth Factor-I Receptor
Chen C, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2461-6

Polymorphisms in metabolic genes related to tobacco smoke and the risk of gastric cancer in the European prospective investigation into cancer and nutrition
Agudo A, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2427-34

A NAD(P)H:Quinone Oxidoreductase 1 Polymorphism Is a Risk Factor for Human Colon Cancer
Begleiter A, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2422-6

Comprehensive Analysis of 22 XPC Polymorphisms and Bladder Cancer Risk
Sak SC, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2537-41

XRCC1, XRCC3, and XPD Polymorphisms as Modifiers of the Effect of Smoking and Alcohol on Colorectal Adenoma Risk
Stern MC, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2384-90

Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans: A population-based study
Cote ML, et al.
Lung Cancer 2006 Dec

Polymorphisms in Genes Related to Bacterial Lipopolysaccharide/Peptidoglycan Signaling and Gastric Precancerous Lesions in a Population at High Risk for Gastric Cancer
Kato I, et al.
Dig Dis Sci 2006 Dec

MTHFR 677CC/1298CC genotypes are highly associated with chronic myelogenous leukemia: A case-control study in Korea
Moon HW, et al.
Leuk Res 2006 Dec

Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma
Rollinson S, et al.
Leuk Lymphoma 2006 Dec;47(12):2567-83

Folate levels in mucosal tissue but not methylenetetrahydrofolate reductase polymorphisms are associated with gastric carcinogenesis
Weng YR, et al.
World J Gastroenterol 2006 Dec;12(47):7591-7

Vitamin d receptor genotypes/haplotypes and prostate cancer risk
Cicek MS, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2549-52

Association of Genetic Variants of O6-Methylguanine-DNA Methyltransferase with Risk of Lung Cancer in Non-Hispanic Whites
Wang L, et al.
Cancer Epidemiol Biomarkers Prev 2006 Dec;15(12):2364-9

Polymorphisms of dopamine receptor/transporter genes and risk of non-small cell lung cancer
Campa D, et al.
Lung Cancer 2006 Dec

The interleukin-8 (-251A/T) polymorphism is associated with increased risk for oral squamous cell carcinoma
Vairaktaris E, et al.
Eur J Surg Oncol 2006 Dec

Smoking and susceptibility to thyroid cancer: an inverse association with CYP1A1 allelic variants
Bufalo NE, et al.
Endocr Relat Cancer 2006 Dec;13(4):1185-93

 

Endocrine, Nutritional and Metabolic Diseases

IGF-I Polymorphism Is Associated with Lean Mass, Exercise Economy, and Exercise Performance among Premenopausal Women
Lopez-Alarcon M, et al.
Arch Med Res 2007 Jan;38(1):56-63

Association of the C825T polymorphism of the G-protein beta3 subunit gene with hypertension, obesity, hyperlipidemia, insulin resistance, diabetes, diabetic complications, and diabetic therapies among Japanese
Hayakawa T, et al.
Metabolism 2007 Jan;56(1):44-8

Association between cannabinoid type-1 receptor polymorphism and body mass index in a southern Italian population
Gazzerro P, et al.
Int J Obes (Lond) 2006 Dec

Apolipoprotein E e4 allele affects risk of hyperhomocysteinemia in the elderly
Ravaglia G, et al.
Am J Clin Nutr 2006 Dec;84(6):1473-80

Linkage Disequilibrium With Predisposing DR3 Haplotypes Accounts for Apparent Effects of Tumor Necrosis Factor and Lymphotoxin-alpha Polymorphisms on Type 1 Diabetes Susceptibility
Noble JA, et al.
Hum Immunol 2006 Dec;67(12):999-1004

Association study of single nucleotide polymorphism of interleukin 6 receptor gene and type 2 diabetes in Chinese Han population
Zhang M & Tian L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Dec;23(6):662-4

Susceptibility genes for the development of autoimmune thyroid disease
Shirasawa S
Nippon Rinsho 2006 Dec;64(12):2208-14

Investigation of KIR Gene Frequencies in Type 1 Diabetes Mellitus
Middleton D, et al.
Hum Immunol 2006 Dec;67(12):986-90

Analysis of cholesterol ester transfer protein gene Taq IB and -629 C/A polymorphisms in patients with endogenous hypertriglyceridemia in Chinese population
Wu Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Dec;23(6):640-6

Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults
Nettleton JA, et al.
Atherosclerosis 2006 Dec

No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases
Bell CG, et al.
Eur J Hum Genet 2006 Dec

A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol
Fasano T, et al.
Arterioscler Thromb Vasc Biol 2006 Dec

 

Diseases of the Blood & Blood-Forming Organ Disorders

Frequency of CYP2C9 Genotypes among Omani Patients Receiving Warfarin and Its Correlation with Warfarin Dose
Tanira MO, et al.
Community Genet 2007;10(1):32-7

HFE gene mutations in Brazilian thalassemic patients
Oliveira TM, et al.
Braz J Med Biol Res 2006 Dec;39(12):1575-80

Tumor necrosis factor alpha promoter polymorphism associated with increased susceptibility to secondary hemophagocytic lymphohistiocytosis in the Korean population
Chang YH, et al.
Cytokine 2006 Dec

 

Mental Disorders

Association analyses of the serotonin transporter gene with lifetime depression and alcohol dependence in the Collaborative Study on the Genetics of Alcoholism (COGA) sample
Dick DM, et al.
Psychiatr Genet 2007 Feb;17(1):35-8

The Leu72Met polymorphism of the ghrelin gene is significantly associated with binge eating disorder
Monteleone P, et al.
Psychiatr Genet 2007 Feb;17(1):13-6

Polymorphisms in the neuronal isoform of tryptophan hydroxylase 2 are associated with bipolar disorder in French Canadian pedigrees
Harvey M, et al.
Psychiatr Genet 2007 Feb;17(1):17-22

No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia
Jamra RA, et al.
Psychiatr Genet 2007 Feb;17(1):43-5

Functional Variants in the Promoter Region of Chitinase 3-Like 1 (CHI3L1) and Susceptibility to Schizophrenia
Zhao X, et al.
Am J Hum Genet 2007 Jan;80(1):12-8

Association between the 120-bp duplication of the dopamine D4 receptor gene and attention deficit hyperactivity disorder: Genetic and molecular analyses
Kereszturi E, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Effect of mu-Opioid Receptor Gene Polymorphisms on Heroin-Induced Subjective Responses in a Chinese Population
Zhang D, et al.
Biol Psychiatry 2006 Dec

Association of the dopamine receptor D4 (DRD4) gene 7-repeat allele with children with attention-deficit/hyperactivity disorder (ADHD): An update
Gornick MC, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Lack of association between COMT gene and deficit/nondeficit schizophrenia
Wonodi I, et al.
Behav Brain Funct 2006 Dec;2(1):42

No association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and schizophrenia in a Spanish sample
Lorenzo CV, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Association between obsessive-compulsive disorder and a variable number of tandem repeats polymorphism in intron 2 of the serotonin transporter gene
Baca-Garcia E, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Dec

Prenatal Smoking Exposure and Dopaminergic Genotypes Interact to Cause a Severe ADHD Subtype
Neuman RJ, et al.
Biol Psychiatry 2006 Dec

Dopaminergic polymorphisms in Tourette syndrome: Association with the DAT gene (SLC6A3)
Yoon DY, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Dopamine beta-Hydroxylase Gene (DbetaH) -1021C-->T Influences Self-Reported Paranoia during Cocaine Self-Administration
Kalayasiri R, et al.
Biol Psychiatry 2006 Dec

Association analysis of the protein phosphatase 1 regulatory subunit 1B (PPP1R1B) gene with nicotine dependence in European- and African-American smokers
Beuten J, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Evaluation of association of SNPs in the TNF alpha gene region with schizophrenia
Morar B, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

 

Diseases of the Nervous System and Sense Organs

Protein kinase C-beta 1 gene variants are not associated with autism in the Irish population
Yang MS, et al.
Psychiatr Genet 2007 Feb;17(1):39-41

Association of GABRG2 Polymorphisms With Idiopathic Generalized Epilepsy
Chou IC, et al.
Pediatr Neurol 2007 Jan;36(1):40-4

PINK1 mutation heterozygosity and the risk of Parkinson's disease
Toft M, et al.
J Neurol Neurosurg Psychiatry 2007 Jan;78(1):82-4

Association among serous and cerebrospinal fluid TNF-alpha level, gene polymorphisms of TNF-alpha and multiple sclerosis in Han nationality of southern China
Dong Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Dec;23(6):677-9

The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis
Cunningham S, et al.
J Neuroimmunol 2006 Dec

CARD15 variants in patients with sporadic Parkinson's disease
Bialecka M, et al.
Neurosci Res 2006 Dec

Cyclooxygenase-2 polymorphisms in Parkinson's disease
Hakansson A, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Sequence variants within exon 1 of MECP2 occur in females with mental retardation
Harvey CG, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Lack of association of hepatic lipase polymorphisms with late-onset Alzheimer's disease
Zhu H, et al.
Neurobiol Aging 2006 Dec

Association Analysis of Genetic Polymorphisms in the CDC2 Gene with Late-Onset Alzheimer Disease
Liang X, et al.
Dement Geriatr Cogn Disord 2006 Dec;23(2):126-32

Comprehensive association analysis of the NOS2A gene with Parkinson disease
Schulte C, et al.
Neurology 2006 Dec;67(11):2080-2

Polymorphisms in Complement Factor H and Hemicentin-1 Genes in a Japanese Population With Dry-type Age-related Macular Degeneration
Fuse N, et al.
Am J Ophthalmol 2006 Dec;142(6):1074-6

The urokinase-type plasminogen activator polymorphism PLAU_1 is a risk factor for APOE-epsilon4 non-carriers in the Italian Alzheimer's disease population and does not affect the plasma Abeta(1-42) level
Pesaresi M, et al.
Neurobiol Dis 2006 Dec

 

Diseases of the Circulatory System

Association of RAGE gene polymorphisms with coronary artery disease in the Korean population
Yoon SJ, et al.
Coron Artery Dis 2007 Feb;18(1):1-8

Absence of an interaction between the angiotensin-converting enzyme insertion-deletion polymorphism and pravastatin on cardiovascular disease in high-risk hypertensive patients: The Genetics of Hypertension-Associated Treatment (GenHAT) study
Maitland-van der Zee AH, et al.
Am Heart J 2007 Jan;153(1):54-8

Platelet glycoprotein ia 807c/t and 873g/a polymorphisms in patients with venous thromboembolism
Okumus G, et al.
Clin Appl Thromb Hemost 2007 Jan;13(1):101-3

Role of glycoprotein Ia gene polymorphisms in determining platelet function in myocardial infarction patients undergoing percutaneous coronary intervention on dual antiplatelet treatment
Giusti B, et al.
Atherosclerosis 2006 Dec

Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysis
Banerjee I, et al.
J Hum Genet 2006 Dec

Association Between Osteopontin and Human Abdominal Aortic Aneurysm
Golledge J, et al.
Arterioscler Thromb Vasc Biol 2006 Dec

Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis
Yu H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Dec;23(6):635-9

The glu298asp polymorphism in the nitric oxide synthase 3 gene is associated with the risk of ischemic stroke in two large independent case-control studies
Berger K, et al.
Hum Genet 2006 Dec

Homocysteine, MTHFR C677 T, Vitamin B12, and Folate Levels in Thai Children With Ischemic Stroke: A Case-control Study
Sirachainan N, et al.
J Pediatr Hematol Oncol 2006 Dec;28(12):803-8

Association of fibrinogen B beta -1420G/A, -993C/T and -854G/A gene polymorphism with coronary heart disease
Xing H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Dec;23(6):622-6

Population-Based Sample Reveals Gene-Gender Interactions in Blood Pressure in White Americans
Rana BK, et al.
Hypertension 2006 Dec

Angiotensinogen promoter sequence variants in essential hypertension
Velez DR, et al.
Am J Hypertens 2006 Dec;19(12):1278-85

The association between mannose-binding lectin gene polymorphism and rheumatic heart disease
Messias Reason IJ, et al.
Hum Immunol 2006 Dec;67(12):991-8

Apolipoprotein E genotype and circulating interleukin-10 levels in patients with stable and unstable coronary artery disease
Tziakas DN, et al.
J Am Coll Cardiol 2006 Dec;48(12):2471-81

Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with plasma plasminogen activator inhibitor type 1 levels but not with myocardial infarction or stroke
Ding J, et al.
Am Heart J 2006 Dec;152(6):1109-15

Effect of Angiotensin Converting Enzyme Inhibitors on 1.25-(OH)2 D Levels of Hypertensive Patients. Relationship with ACE Polymorphisms
Perez-Castrillon JL, et al.
Horm Metab Res 2006 Dec;38(12):812-6

 

Diseases of the Respiratory System

IL-4R{alpha} Mutations are Associated with Asthma Exacerbations and Mast Cells/IgE Expression
Wenzel SE, et al.
Am J Respir Crit Care Med 2006 Dec

The PTGDR gene is not associated with asthma in 3 ethnically diverse populations
Tsai YJ, et al.
J Allergy Clin Immunol 2006 Dec;118(6):1242-8

 

Diseases of the Digestive System

Incidence of Crohn's disease and CARD15 mutation in a small township in Sicily
Cottone M, et al.
Eur J Epidemiol 2006 Dec

Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis
Bhaskar S, et al.
BMC Gastroenterol 2006 Dec;6(1):42

DLG5 R30Q Variant Is a Female-Specific Protective Factor in Pediatric Onset Crohn's Disease
Biank V, et al.
Am J Gastroenterol 2006 Dec

TGF-beta1 gene polymorphism in liver graft recipients
Gomez-Mateo J, et al.
Transpl Immunol 2006 Dec;17(1):55-7

 

Diseases of the Genitourinary System

FSH receptor gene polymorphisms in fertile and infertile Italian men
Pengo M, et al.
Reprod Biomed Online 2006 Dec;13(6):795-800

Polymorphisms of the human PUMILIO2 gene and male sterility
Kusz K, et al.
Mol Reprod Dev 2006 Dec

 

Complications of Pregnancy, Childbirth, and the Puerperium

Susceptibility to Pre-Eclampsia Is Associated with Multiple Genetic Polymorphisms in Maternal Biotransformation Enzymes
Zusterzeel PL, et al.
Gynecol Obstet Invest 2006 Dec;63(4):209-13

 

Diseases of the Musculoskeletal System and Connective Tissue

HLA-C locus alleles may modulate the clinical expression of psoriatic arthritis
Queiro R, et al.
Arthritis Res Ther 2006 Dec;8(6):R185

The systemic lupus erythematosus new genetic factor IRF5 rs2004640-T allele is not linked to, nor associated with rheumatoid arthritis, in a family-based study from the French caucasian population
Garnier S, et al.
Ann Rheum Dis 2006 Dec

Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women
Hong X, et al.
Bone 2006 Dec

Association of a Common Interferon Regulatory Factor 5 (IRF5) Variant with Increased Risk of Systemic Lupus Erythematosus (SLE)
Demirci FY, et al.
Ann Hum Genet 2006 Dec

FokI Polymorphism of the Vitamin D Receptor Gene Correlates with Parameters of Bone Mass and Turnover in a Female Population of the Italian Island of Lampedusa
Falchetti A, et al.
Calcif Tissue Int 2006 Dec

Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension
Wipff J, et al.
Rheumatology (Oxford) 2006 Dec

 

Congenital Anomalies

Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants
Shi M, et al.
Am J Hum Genet 2007 Jan;80(1):76-90

 

Symptoms, Signs and Ill-defined Conditions

Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain: OPRM1 and COMT gene
Reyes-Gibby CC, et al.
Pain 2006 Dec

No Association Between Variants in the ACE and Angiotensin II Receptor 1 Genes and Acute Mountain Sickness in Nepalese Pilgrims to the Janai Purnima Festival at 4380 m
Koehle MS, et al.
High Alt Med Biol 2006 Winter;7(4):281-9

 

Injury and Poisoning

Genetic predisposition and health effect of occupational exposure to asbestos
Horska A, et al.
Neuro Endocrinol Lett 2006 Dec;27(Suppl2):100-3

Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to cytostatics
Musak L, et al.
Neuro Endocrinol Lett 2006 Dec;27(Suppl2):57-60

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
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