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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
June 9, 2005
Volume 14, No. 23

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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

An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore
Chowbay B, et al.
Drug Metab Rev 2005;37(2):327-78

Distribution of the mutated Delta32 allele of the CCR5 gene in a Sicilian population
Sidoti A, et al.
Int J Immunogenet 2005 Jun;32(3):193-8

 

Infectious and Parasitic Diseases

Cytokine gene polymorphisms in Colombian patients with different clinical presentations of tuberculosis
Henao MI, et al.
Tuberculosis (Edinb) 2005 May

Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease
Jeong BH, et al.
J Hum Genet 2005 Jun

Analysis of IL10 haplotypic associations with severe malaria
Wilson JN, et al.
Genes Immun 2005 Jun

Effect of CCR2 Chemokine Receptor Polymorphism on HIV Type 1 Mother-to-Child Transmission and Child Survival in Western Kenya
Brouwer KC, et al.
AIDS Res Hum Retroviruses 2005 May;21(5):358-62

Promoter and intron-1 region polymorphisms in the IFNG gene in patients with hepatitis E
Arora R, et al.
Int J Immunogenet 2005 Jun;32(3):207-12

 

Neoplasms

Radiation response genotype and risk of differentiated thyroid cancer: a case-control analysis
Sturgis EM, et al.
Laryngoscope 2005 Jun;115(6):938-45

Polymorphisms of thymidylate synthase in the 5'- and 3'-untranslated regions associated with risk of gastric cancer in South China: a case-control analysis
Zhang Z, et al.
Carcinogenesis 2005 Jun

The functional polymorphism in the matrix metalloproteinase-7 promoter increases susceptibility to esophageal squamous cell carcinoma, gastric cardiac adenocarcinoma and non-small cell lung carcinoma
Zhang J, et al.
Carcinogenesis 2005 Jun

Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study
Willis G, et al.
BMC Gastroenterol 2005 Jun;5(1):17

Cytokine gene polymorphism in Iranian patients with chronic myelogenous leukaemia
Amirzargar AA, et al.
Int J Immunogenet 2005 Jun;32(3):167-71

Link between colorectal cancer and polymorphisms in the uridine-diphosphoglucuronosyltransferase 1A7 and 1A1 genes
Tang KS , et al.
World J Gastroenterol 2005 Jun;11(21):3250-4

Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment
Quehenberger F, et al.
J Med Genet 2005 Jun;42(6):491-6

RET Polymorphisms and Haplotypes and Risk of Differentiated Thyroid Cancer
Ho T, et al.
Laryngoscope 2005 Jun;115(6):1035-41

Cytokine gene polymorphisms in gastric cancer patients from two Italian areas at high and low cancer prevalence
Perri F, et al.
Cytokine 2005 Jun;30(5):293-302

The Effects of Interleukin 10 and Interferon gamma Cytokine Gene Polymorphisms on Survival after Autologous Bone Marrow Transplantation for Patients with Breast Cancer
Wu JM, et al.
Biol Blood Marrow Transplant 2005 Jun;11(6):455-64

Nitric oxide synthase 2 (NOS2) promoter polymorphisms in colorectal cancer
Fransen K, et al.
Cancer Lett 2005 Jul;225(1):99-103

Germline susceptibility to colorectal cancer due to base-excision repair gene defects
Farrington SM, et al.
Am J Hum Genet 2005 Jul;77(1):112-9

Is prophylactic colectomy indicated in patients with MYH-associated polyposis?
Leite JS, et al.
Colorectal Dis 2005 Jul;7(4):327-31

Increased Cyclooxygenase-2 Expression in Duodenal Compared with Colonic Tissues in Familial Adenomatous Polyposis and Relationship to the -765G -> C COX-2 Polymorphism
Brosens LA, et al.
Clin Cancer Res
2005 Jun;11(11):4090-6

Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer
Zhang X, et al.
J Med Genet 2005 Jun;42(6):479-84

Placental Cadherin and the Basal Epithelial Phenotype of BRCA1-Related Breast Cancer
Arnes JB, et al.
Clin Cancer Res 2005 Jun;11(11):4003-11

Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50
Vogel U, et al.
Cancer Detect Prev
2005;29(3):209-14

Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants
Kornguth DG, et al.
Int J Radiat Oncol Biol Phys 2005 Jul;62(3):665-71

 

Endocrine, Nutritional and Metabolic Diseases

Single nucleotide polymorphisms in the gene encoding Kruppel-like factor 7 are associated with type 2 diabetes
Kanazawa A, et al.
Diabetologia 2005 Jun

Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns
Mohlke KL, et al.
Mol Genet Metab 2005 Jun

Correlations between apolipoprotein E {varepsilon}4 gene dose and brain-imaging measurements of regional hypometabolism
Reiman EM, et al.
Proc Natl Acad Sci U S A 2005 Jun

Human Galanin (GAL) and Galanin 1 Receptor (GALR1) Variations Are Not Involved in Fat Intake and Early Onset Obesity
Schauble N, et al.
J Nutr 2005 Jun;135(6):1387-92

Baseline levels of low-density lipoprotein cholesterol and lipoprotein (a) and the AvaII polymorphism of the low-density lipoprotein receptor gene influence the response of low-density lipoprotein cholesterol to pravastatin treatment
Lahoz C, et al.
Metabolism 2005 Jun;54(6):741-7

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data
Scotet V, et al.
BMC Med Genet 2005 Jun;6(1):24

A beneficial effect of simvastatin on DNA damage in 242T allele of the NADPH oxidase p22phox in hypercholesterolemic patients
Shin MJ, et al.
Clin Chim Acta 2005 Jun

Effect of apolipoprotein E (apoE) phenotype on the apoE content of CSF-HDL in children
Hirayama S, et al.
Clin Chim Acta 2005 Jun;356(1-2):110-6

Peroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean population
Kim JH, et al.
Diabetologia 2005 Jun

Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients
Nakagawa T, et al.
Diabetes Res Clin Pract 2005 Jun;68(3):188-92

Apolipoprotein e4 allele and the risk of CAD death in type 2 diabetes mellitus with ischaemia electrocardiographic change
Guang-da X, et al.
Diabetes Res Clin Pract 2005 Jun;68(3):223-9

The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glucose tolerance in Caribbean subjects with a family history of type 2 diabetes
Ezenwaka C, et al.
J Endocrinol 2005 Jun;185(3):439-44

Apolipoprotein E polymorphism in type 2 diabetic patients of Talca, Chile
Leiva E, et al.
Diabetes Res Clin Pract 2005 Jun;68(3):244-9

 

Diseases of the Blood and Blood-Forming Organs Disorders

HLA-DRB1 alleles and Jk immunization
Reviron D, et al.
Transfusion 2005 Jun;45(6):956-9

Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose
Rieder MJ, et al.
N Engl J Med 2005 Jun;352(22):2285-93

 

Mental Disorders

Gene-gene interaction between MAOA and COMT in suicidal behavior
De Luca V, et al.
Neurosci Lett 2005 Jul;383(1-2):151-4

The X-box binding protein 1 (XBP1) gene is not associated with methamphetamine dependence
Morita Y, et al.
Neurosci Lett 2005 Jul;383(1-2):194-8

COMT Val(108/158)Met Modifies Mismatch Negativity and Cognitive Function in 22q11 Deletion Syndrome
Baker K, et al.
Biol Psychiatry 2005 Jun

A possible association between the -116C/G single nucleotide polymorphism of the XBP1 gene and lithium prophylaxis in bipolar disorder
Masui T, et al.
Int J Neuropsychopharmacol 2005 Jun:1-6

The TPH intron 7 A218C polymorphism and TCI dimension scores in alcohol-dependent patients: hints to nonspecific psychopathology
Anghelescu I, et al.
Addict Behav 2005 Jul;30(6):1135-43

Analysis of SNP profiles in patients with major depressive disorder
Koks S, et al.
Int J Neuropsychopharmacol 2005 Jun:1-8

 

Diseases of the Nervous System and Sense Organs

Association study and meta-analysis of low-density lipoprotein receptor related protein in Alzheimer's disease
Pritchard A, et al.
Neurosci Lett 2005 Jul;382(3):221-6

Responsiveness to cholinesterase inhibitors in Alzheimer's disease: A possible role for the 192 Q/R polymorphism of the PON-1 gene
Pola R, et al.
Neurosci Lett 2005 Jul;382(3):338-41

Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy
Conley YP, et al.
Hum Mol Genet 2005 Jun

LRRK2 R1441G in Spanish patients with Parkinson's disease
Mata IF, et al.
Neurosci Lett 2005 Jul;382(3):309-11

The T-786C NOS3 polymorphism in Alzheimer's disease: Association and influence on gene expression
Venturelli E, et al.
Neurosci Lett 2005 Jul;382(3):300-3

Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients
Cai L, et al.
Neuroreport 2005 Jun;16(9):1023-6

Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism
Deng H, et al.
Neurosci Lett 2005 Jul;382(3):297-9

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organization
Donaudy F, et al.
J Med Genet 2005 Jun

Apolipoprotein e genotype and mortality: findings from the cache county study
Hayden KM, et al.
J Am Geriatr Soc 2005 Jun;53(6):935-42

CYP46: A risk factor for Alzheimer's disease or a coincidence?
Golanska E, et al.
Neurosci Lett 2005 Jul;383(1-2):105-8

Association analysis for the muscarinic M1 receptor genetic polymorphisms and Alzheimer's disease
Liu HC, et al.
Dement Geriatr Cogn Disord 2005;19(1):42-5

 

Diseases of the Circulatory System

A IGF-I promoter polymorphism modifies the relationship between birth weight and risk factors for cardiovascular disease and diabetes at age 36
Te Velde SJ, et al.
BMC Endocr Disord 2005 Jun;5(1):5

Thrombosis in systemic lupus erythematosus: Congenital and acquired risk factors
Afeltra A, et al.
Arthritis Rheum 2005 Jun;53(3):452-9

Association of a Functional Polymorphism in the Clopidogrel Target Receptor Gene, P2Y12, and the Risk for Ischemic Cerebrovascular Events in Patients With Peripheral Artery Disease
Ziegler S, et al.
Stroke 2005 Jun

VEGF polymorphisms and severity of atherosclerosis
Howell WM, et al.
J Med Genet 2005 Jun;42(6):485-90

Haplotype association analysis of the polymorphisms Arg16Gly and Gln27Glu of the adrenergic beta(2) receptor in a Swedish hypertensive population
Wallerstedt SM, et al. J Hum Hypertens 2005 Jun

Genetic influences on 24 h blood pressure profiles in a hypertensive population: role of the angiotensin-converting enzyme insertion/deletion and angiotensin II type 1 receptor A1166C gene polymorphisms
Spiering W, et al.
Blood Press Monit 2005 Jun;10(3):135-41

 

Diseases of the Respiratory System

Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthma
Litonjua AA, et al.
Respir Res 2005 Jun;6(1):52

Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children
Korytina GF, et al.
J Mol Med 2005 Jun

Association of interleukin 18 (IL18) polymorphisms with specific IgE levels to mite allergens among asthmatic patients
Shin HD, et al.
Allergy 2005 Jul;60(7):900-6

Lack of association between antioxidant gene polymorphisms and progressive massive fibrosis in coal miners
Yucesoy B, et al.
Thorax 2005 Jun;60(6):492-5

 

Diseases of the Digestive System

Host TNF-alpha-1031 and -863 Promoter Single Nucleotide Polymorphisms Determine the Risk of Benign Ulceration after H. pylori Infection
Lu CC, et al.
Am J Gastroenterol 2005 Jun;100(6):1274-82

TNFalpha and IL10 SNPs act together to predict disease behaviour in Crohn's disease
Fowler EV, et al.
J Med Genet 2005 Jun;42(6):523-8

Effect of CYP2C19 polymorphism on the safety and efficacy of omeprazole in Japanese patients with recurrent reflux oesophagitis
Ohkusa T, et al.
Aliment Pharmacol Ther 2005 Jun;21(11):1331-9

Fas polymorphisms influence susceptibility to autoimmune hepatitis
Hiraide A, et al.
Am J Gastroenterol 2005 Jun;100(6):1322-9

Human leucocyte antigen determinants of susceptibility to Barrett's oesophagus in Asians - a preliminary study
Rajendra S, et al.
Aliment Pharmacol Ther 2005 Jun;21(11):1377-83

 

Diseases of the Genitourinary System

Mutations in hepatocyte nuclear factor-1{beta} and their related phenotypes
Edghill EL, et al.
J Med Genet 2005 Jun

Polymorphisms of the renin-angiotensin system genes in Brazilian patients with lupus nephropathy
Sprovieri SR & Sens YA
Lupus 2005;14(5):356-62

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association of Apolipoprotein J Gene 866C-->T Polymorphism with Preeclampsia and Essential Hypertension
Chen M, et al.
Gynecol Obstet Invest 2005 May;60(3):13-8

 

Diseases of the Skin and Subcutaneous Tissue

Fine mapping of the psoriasis susceptibility gene PSORS1: a reassessment of risk associated with a putative risk haplotype lacking HLA-Cw6
Elder JT
J Invest Dermatol 2005 May;124(5):921-30

 

Diseases of the Musculoskeletal System and Connective Tissue

Catalase and PPARgamma2 genotype and risk of systemic lupus erythematosus in Koreans
Eny KM, et al.
Lupus 2005;14(5):351-5

Glutathione S-transferase genotype and risk of systemic lupus erythematosus in Koreans
Kang TY, et al.
Lupus 2005;14(5):381-4

Evidence of a pharmacogenomic response to interleukin-l receptor antagonist in rheumatoid arthritis
Camp NJ , et al.
Genes Immun 2005 Jun

Estrogen receptor alpha gene polymorphism and systemic lupus erythematosus: a possible risk?
Kassi E, et al.
Lupus 2005;14(5):391-8

Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus
Johansson M, et al.
Arthritis Rheum 2005 Jun;52(6):1665-9

No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren's syndrome
Ittah M, et al.
Genes Immun 2005 Jun

The association between fcgammaRIIIB polymorphisms and systemic lupus erythematosus in Korea
Hong CH, et al.
Lupus 2005;14(5):346-50

Genetic contribution of the tumour necrosis factor (TNF) B + 252*2/2 genotype, but not the TNFa,b microsatellite alleles, to systemic lupus erythematosus in Japanese patients
Takeuchi F, et al.
Int J Immunogenet 2005 Jun;32(3):173-8

Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene
Hinks A, et al.
Arthritis Rheum 2005 Jun;52(6):1694-9

 

Congenital Anomalies

Folate-related genes and omphalocele
Mills JL, et al.
Am J Med Genet A 2005 Jun

 

Symptoms, Signs, and Ill-defined Conditions

Genetic polymorphisms and activity of PON1 in a Mexican population
Rojas-Garcia AE, et al.
Toxicol Appl Pharmacol 2005 Jun;205(3):282-9

The Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene may influence morphine requirements in cancer pain patients
Rakvag TT, et al.
Pain 2005 May

Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
Holla OL, et al.
Clin Chim Acta 2005 Jun;356(1-2):164-71

Sequence-Based Typing of the HLA-A10/A19 Group and Confirmation of a Pseudogene Coamplified With A*3401
Swelsen WT, et al.
Hum Immunol 2005 May;66(5):535-42

Effect of CYP2D6*10 allele on the pharmacokinetics of loratadine in Chinese subjects
Yin O, et al.
Drug Metab Dispos 2005 Jun

 

Injury and Poisoning

Developmentally Restricted Genetic Determinants of Human Arsenic Metabolism: Association between Urinary Methylated Arsenic and CYT19 Polymorphisms in Children
Meza MM, et al.
Environ Health Perspect 2005 Jun;113(6):775-81

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: CDC's Office of Public Health Genomics