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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
June 29, 2006
Volume 16, No. 26

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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

Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India
Manoharan I, et al.
Pharmacogenet Genomics 2006 Jul;16(7):461-8

Novel deoxycytidine kinase gene polymorphisms: a population screening study in Caucasian healthy volunteers
Joerger M, et al.
Eur J Clin Pharmacol 2006 Jun

Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia
Rossino R, et al.
J Clin Pharm Ther 2006 Jun;31(3):283-7

 

Infectious and Parasitic Diseases

MxA gene-88 G/T polymorphism influences the outcomes of HBV infection
Yin SC, et al.
Zhonghua Gan Zang Bing Za Zhi 2006 Jun;14(6):418-21

Pharmacogenetic Characteristics of Indinavir, Zidovudine, and Lamivudine Therapy in HIV-Infected Adults: A Pilot Study
Anderson PL, et al.
J Acquir Immune Defic Syndr 2006 Jun

Studies on TAQ1 polymorphism in the 3'untranslated region of IL-12P40 gene in HCV patients infected predominantly with genotype 3
Suneetha PV, et al.
J Med Virol 2006 Jun;78(8):1055-60

           

 

Neoplasms

CDH1/E-cadherin germline mutations in early onset gastric cancer
Bacani JT, et al.
J Med Genet 2006 Jun

Effect of Chest X-Rays on the Risk of Breast Cancer Among BRCA1/2 Mutation Carriers in the International BRCA1/2 Carrier Cohort Study
Andrieu N, et al.
J Clin Oncol 2006 Jun

Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab
Zhang W, et al.
Pharmacogenet Genomics 2006 Jul;16(7):475-83

Are CYP17 genotypes a biomarker for ovarian cancer in patients with cancer history in their family?
Yazici H, et al.
Oncol Res 2006;16(1):43-7

Prospective Phase II Study of Gefitinib for Chemotherapy-Naive Patients With Advanced Non-Small-Cell Lung Cancer With Epidermal Growth Factor Receptor Gene Mutations
Inoue A, et al.
J Clin Oncol 2006 Jun

Genetic Variations in Radiation and Chemotherapy Drug Action Pathways Predict Clinical Outcomes in Esophageal Cancer
Wu X, et al.
J Clin Oncol 2006 Jun

Heterozygous Thr 135 Ala polymorphism at leucine-rich repeat (LRR) in genomic DNA of toll-like receptor 4 in patients with poorly-differentiated gastric adenocarcinomas
Ohara T, et al.
Int J Mol Med 2006 Jul;18(1):59-63

Genetic polymorphisms of phase II metabolic enzymes and lung cancer susceptibility in a population of Central South China
Chen HC, et al.
Dis Markers 2006;22(3):141-52

Association of the OGG1-Ser326Cys polymorphism with lung adenocarcinoma risk
Kohno T, et al.
Cancer Sci 2006 Jun

Vitamin D and estrogen receptor gene polymorphisms and the risk of colorectal cancer in Bulgaria
Kadiyska T, et al.
Int J Colorectal Dis 2006 Jun

The TP53 codon 72 polymorphism and predisposition to adrenocortical cancer in Polish patients
Ignaszak-Szczepaniak M, et al.
Oncol Rep 2006 Jul;16(1):65-71

Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients
Morari EC, et al.
J Cancer Res Clin Oncol 2006 Aug;132(8):521-8

DNA repair gene XRCC3 polymorphisms and cancer risk: a meta-analysis of 48 case-control studies
Han S, et al.
Eur J Hum Genet 2006 Jun

Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group
Mehta PA, et al.
Leukemia 2006 Jun

Genetic determinants of bone mass do not relate with breast cancer risk in US white and African-American women
Vandevord PJ, et al.
Breast Cancer Res Treat 2006 Jun

Combined profile of the tandem repeats CAG, TA and CA of the androgen and estrogen receptor genes in breast cancer
Anghel A, et al.
J Cancer Res Clin Oncol 2006 Jun

PTEN mutation, expression and LOH at its locus in ovarian carcinomas. Relation to TP53, K-RAS and BRCA1 mutations
Kolasa IK, et al.
Gynecol Oncol 2006 Jun

Polymorphisms in O6-methylguanine DNA methyltransferase and breast cancer risk
Han J, et al.
Pharmacogenet Genomics 2006 Jul;16(7):469-74

GPX1 Pro198Leu polymorphism, interactions with smoking and alcohol consumption, and risk for lung cancer
Raaschou-Nielsen O, et al.
Cancer Lett 2006 Jun

Polymorphisms of XRCC1 genes and risk of nasopharyngeal carcinoma in the Cantonese population
Cao Y, et al.
BMC Cancer 2006 Jun;6(1):167

TGFbeta1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors
De Ruyck K, et al.
Int J Radiat Oncol Biol Phys 2006 Jul;65(4):1240-8

Effects of genetic polymorphisms of MDR1, FMO3 and CYP1A2 on susceptibility to colorectal cancer in Koreans
Bae SY, et al.
Cancer Sci 2006 Jun

HLA Class II Polymorphism: Protective or Risk Factors to Breast Cancer in Tunisia?
Baccar Harrath A, et al.
Pathol Oncol Res 2006;12(2):79-81

Interactions Between CYP2C9 and UGT1A6 Polymorphisms and Nonsteroidal Anti-Inflammatory Drugs in Colorectal Cancer Prevention
Samowitz WS, et al.
Clin Gastroenterol Hepatol 2006 Jun

Re-analysis of the Xq27-Xq28 region suggests a weak association of an X-linked gene with sporadic testicular germ cell tumour without cryptorchidism
Lutke Holzik MF, et al.
Eur J Cancer 2006 Jun

 

Endocrine, Nutritional and Metabolic Diseases

Homozygosity for the IgG2 Subclass Allotype G2M(n) Protects against Severe Infection in Hereditary C2 Deficiency
Jonsson G, et al.
J Immunol 2006 Jul;177(1):722-8

Altered Levels of Basal Cortisol in Healthy Subjects with a 118G Allele in Exon 1 of the Mu Opioid Receptor Gene
Bart G, et al.
Neuropsychopharmacology 2006 Jun

Non classical HLA genes and non-HLA genes in a population of infants at familial risk of atopy
De Silvestri A, et al.
Dis Markers 2006;22(3):111-7

Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS)
Moron FJ, et al.
Pharmacogenet Genomics 2006 Jul;16(7):485-95

Sex-specific effect of the Val1483Ile polymorphism in the fatty acid synthase gene (FAS) on body mass index and lipid profile in Caucasian children
Korner A, et al.
Int J Obes (Lond) 2006 Jun

Polymorphisms of the gene encoding adiponectin and glycaemic outcome of Chinese subjects with impaired glucose tolerance: a 5-year follow-up study
Tso AW, et al.
Diabetologia 2006 Jun

The 5-HT2C receptor and antipsychoticinduced weight gain - mechanisms and genetics
Reynolds GP, et al.
J Psychopharmacol 2006 Jul;20(4 Suppl):15-8

Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study
Lievers KJ, et al.
Eur J Hum Genet 2006 Jun

Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate
Lombardi MP, et al.
Genet Test 2006 Summer;10(2):77-84

Combined Test for UGT1A1 -3279T-->G and A(TA)nTAA Polymorphisms Best Predicts Gilbert's Syndrome in Italian Pediatric Patients
Ferraris A, et al.
Genet Test 2006 Summer;10(2):121-5

The association of CTLA-4 and HLA class II autoimmune risk genotype with regulatory T cell marker expression in 5-year-old children
Jonson CO, et al.
Clin Exp Immunol 2006 Jul;145(1):48-55

Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study
Santiago JL, et al.
BMC Med Genet 2006 Jun;7(1):54

Tumor Necrosis Factor-{alpha} -308G>A Polymorphism Modulates Iron Accumulation in Patients with Hereditary Hemochromatosis
Krayenbuehl PA, et al.
Clin Chem 2006 Jun

Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms
Banerjee I, et al.
Eur J Endocrinol 2006 Jul;155(1):121-6

p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects
Duarte SF, et al.
Am J Hum Biol 2006 Jun;18(4):448-53

Amp-kinase alpha2 subunit gene prkaa2 variants are associated with total-, ldl- and hdl-cholesterol in normal females
Spencer-Jones NJ, et al.
J Med Genet 2006 Jun

The glucose clamp reveals an association between adiponectin gene polymorphisms and insulin sensitivity in obese subjects
Buzzetti R, et al.
Int J Obes (Lond) 2006 Jun

.Association of HindIII and PvuII genetic polymorphisms of lipoprotein lipase with lipid metabolism and macrovascular events in type 2 diabetic patients
Socquard E, et al.
Diabetes Metab 2006 Jun;32(3):262-9

Hypoadiponectinemia Is Associated With Progression Toward Type 2 Diabetes and Genetic Variation in the ADIPOQ Gene Promoter
Schwarz PE, et al.
Diabetes Care 2006 Jul;29(7):1645-50

Apolipoprotein E genotype and plasma lipid levels in Caucasian diabetic patients
Morbois-Trabut L, et al.
Diabetes Metab 2006 Jun;32(3):270-5

 

Diseases of the Blood & Blood-Forming Organ Disorders

FUT3 Gene Polymorphism Associated with Lewis Blood Group in Chinese Zhejiang Population
Xu XG, et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2006 Jun;14(3):601-4

Glutathione S-Transferase M1 Gene Polymorphisms are Associated with Cardiac Iron Deposition in Patients with beta-Thalassemia Major
Wu KH, et al.
Hemoglobin 2006;30(2):251-6

 

Mental Disorders

Association Between GABRA1 and Drinking Behaviors in the Collaborative Study on the Genetics of Alcoholism Sample
Dick DM, et al.
Alcohol Clin Exp Res 2006 Jul;30(7):1101-10

           

Family-based association study between G72/G30 genetic polymorphism and schizophrenia
Hong CJ, et al.
Neuroreport 2006 Jul;17(10):1067-9

Effects of Variation at the ALDH2 Locus on Alcohol Metabolism, Sensitivity, Consumption, and Dependence in Europeans
Dickson PA, et al.
Alcohol Clin Exp Res 2006 Jul;30(7):1093-100

(AAT)n repeat in the cannabinoid receptor gene, CNR1: association with schizophrenia in a Spanish population
Martinez-Gras I, et al.
Eur Arch Psychiatry Clin Neurosci 2006 Jun

MAOA, maltreatment, and gene-environment interaction predicting children's mental health: new evidence and a meta-analysis
Kim-Cohen J, et al.
Mol Psychiatry 2006 Jun

Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia
Schwab SG, et al.
Mol Psychiatry 2006 Jun

Association study of BDNF and CNTF polymorphism to depression in non-demented subjects of the "VITA" study
Grunblatt E, et al.
J Affect Disord 2006 Jun

The polymorphism GABAR1 T1974C[rs29230] of the GABA receptor gene is not associated with the diagnosis of alcoholism or alcohol withdrawal seizures
Kohnke M, et al.
Addict Biol 2006 Jun;11(2):152-6

Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder
Michelon L, et al.
Neurosci Lett 2006 Jun

 

Diseases of the Nervous System and Sense Organs

The SNAP-25 gene is associated with cognitive ability: evidence from a family-based study in two independent Dutch cohorts
Gosso MF, et al.
Mol Psychiatry 2006 Jun

Effect of CYP2C19 genetic polymorphism on pharmacokinetics of phenytoin and phenobarbital in Japanese epileptic patients using Non-linear Mixed Effects Model approach
Yukawa E & Mamiya K
J Clin Pharm Ther 2006 Jun;31(3):275-82

No association of Vacuolar protein sorting 26 polymorphisms with Alzheimer's disease
Riemenschneider M, et al.
Neurobiol Aging 2006 Jun

Possible gender-dependent association of vascular endothelial growth factor (VEGF) gene and ALS
Fernandez-Santiago R, et al.
Neurology 2006 Jun;66(12):1929-31

Glutathione S-Transferase Gene Polymorphisms in Italian Patients with Sudden Sensorineural Hearing Loss
Cadoni G, et al.
Otol Neurotol 2006 Jun

Association between a functional COMT polymorphism, mental retardation and cognition in Qinba area children
Zhang KJ, et al.
Yi Chuan Xue Bao 2006 Jun;33(6):495-500

IL-8 (-251 A/T) and CXCR2 (+1208 C/T) gene polymorphisms and risk of multiple sclerosis in Iranian patients
Kamali-Sarvestani E, et al.
Neurosci Lett 2006 Jun

Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in patients with Parkinson's disease
Religa D, et al.
Neurosci Lett 2006 Jun

Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease
Venturelli E, et al.
Neurosci Lett 2006 Jun

Molecular pathogenesis of Parkinson's disease: Identification of mutations in the Parkin gene in Indian patients
Biswas A, et al.
Parkinsonism Relat Disord 2006 Jun

Estrogen receptor alpha and APOEepsilon4 polymorphisms interact to increase risk for sporadic AD in Italian females
Porrello E, et al.
Eur J Neurol 2006 Jun;13(6):639-44

Polymorphism of beta-adrenergic receptors and susceptibility to open-angle glaucoma
Inagaki Y, et al.
Mol Vis 2006;12:673-80

Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families
Yao W, et al.
Mol Vis 2006;12:649-54

Interaction of CTSD and A2M polymorphisms in the risk for Alzheimer's disease
Mariani E, et al.
J Neurol Sci 2006 Jun

Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease
Swerdlow RH, et al.
J Neurol Sci 2006 Jun

 

Diseases of the Circulatory System

Genetic causes of Familial Hypercholesterolaemia in UK patients: relation to plasma lipid levels and coronary heart disease risk
Humphries SE, et al.
J Med Genet 2006 Jun

The PON1192RR genotype is associated with a higher prevalence of arterial hypertension
Marra M, et al.
J Hypertens 2006 Jul;24(7):1293-8

The C242T CYBA polymorphism of NADPH oxidase is associated with essential hypertension
Moreno MU, et al.
J Hypertens 2006 Jul;24(7):1299-306

Age-dependent association between hepatic lipase gene C-480T polymorphism and the risk of pre-hospital sudden cardiac death: The Helsinki Sudden Death Study
Fan YM, et al.
Atherosclerosis 2006 Jun

Are the angiotensin-converting enzime gene and acticity risk factors for stroke?
Dikmen M, et al.
Arq Neuropsiquiatr 2006 Jun;64(2A):211-6

Assessment of Genetic Effects of Polymorphisms in the MCP-1 Gene on Serum MCP-1 Levels and Myocardial Infarction in Japanese
Iwai N, et al.
Circ J 2006 Jul;70(7):805-9

The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalytic activities and cardiovascular disease in Korean men
Jang Y, et al.
J Clin Endocrinol Metab 2006 Jun

C242T Polymorphism in CYBA gene (p22;{phox}) and risk of coronary artery disease in a population of Caucasian Italians
Nasti S, et al.
Dis Markers 2006;22(3):167-73

Polymorphism of p53 gene codon 72 in Kuwaiti with coronary artery disease and diabetes
Alkhalaf M, et al.
Int J Cardiol 2006 Jun

Effects of Angiotensinogen and Angiotensin II Type I Receptor Genes on Blood Pressure and Left Ventricular Mass Trajectories in Multiethnic Youth
Wang X, et al.
Twin Res Hum Genet 2006 Jun;9(3):393-402

 

Diseases of the Respiratory System

A comprehensive candidate gene study on bronchial asthma and juvenile idiopathic arthritis
Schubert K, et al.
Dis Markers 2006;22(3):127-32

HLA DRB1*15-DPB1*05 haplotype: a susceptible gene marker for isocyanate-induced occupational asthma?
Kim SH, et al.
Allergy 2006 Jul;61(7):891-4

The role of polymorphisms in ADAM33, a disintegrin and metalloprotease 33, in childhood asthma and lung function in two German populations
Schedel M, et al.
Respir Res 2006 Jun;7(1):91

 

Diseases of the Digestive System

Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis
Settin A, et al.
J Gastrointestin Liver Dis 2006 Jun;15(2):131-5

Evaluation of leptin receptor Lys109Arg polymorphism in patients with non-alcoholic fatty liver disease
Chen SH, et al.
Zhonghua Gan Zang Bing Za Zhi 2006 Jun;14(6):453-5

 

Diseases of the Genitourinary System

Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma gene in women with polycystic ovary syndrome
Yilmaz M, et al.
Gynecol Endocrinol 2006 Jun;22(6):336-42

Angiotensin-converting enzyme gene polymorphism in chronic allograft nephropathy
Biselli PM, et al.
Transplant Proc 2006 Jun;38(5):1327-8

Preproghrelin Leu72Met polymorphism predicts a lower rate of developing renal dysfunction in type 2 diabetic nephropathy
Lee DY, et al.
Eur J Endocrinol 2006 Jul;155(1):187-90

The androgen receptor CAG repeat modifies the impact of testosterone on insulin resistance in women with polycystic ovary syndrome
Mohlig M, et al.
Eur J Endocrinol 2006 Jul;155(1):127-30

Analysis of L-MYC Gene Polymorphism in Patients With Renal Failure Outcome to Renal Transplant
Yigit B, et al.
Transplant Proc 2006 Jun;38(5):1267-9

Henoch-Schonlein purpura: polymorphisms in thrombophilia genes
Dagan E, et al.
Pediatr Nephrol 2006 Jun

Effects of Cholesteryl Ester Transfer Protein TAQ1B Polymorphism in Renal Transplant Patients
Zeybek U, et al.
Transplant Proc 2006 Jun;38(5):1382-4

The Effect of MDR1 (ABCB1) Polymorphism on the Pharmacokinetic of Tacrolimus in Turkish Renal Transplant Recipients
Akbas SH, et al.
Transplant Proc 2006 Jun;38(5):1290-2

Association of uteroglobin G38A polymorphism with IgA nephropathy: a meta-analysis
Yong D, et al.
Am J Kidney Dis 2006 Jul;48(1):1-7

An angiotensin converting enzyme haplotype predicts survival in patients with end stage renal disease
Wetmore JB, et al.
Hum Genet 2006 Jun

 

Diseases of the Musculoskeletal System and Connective Tissue

Influence of Human Leukocyte Antigen-DRB1 on the susceptibility to rheumatoid arthritis and on the production of anti-cyclic citrullinated peptide antibodies in a Portuguese population
Ligeiro DA, et al.
Ann Rheum Dis 2006 Jun

A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density
Riancho JA, et al.
Eur J Endocrinol 2006 Jul;155(1):53-9

Hemorheologic profile in systemic sclerosis: Role of NOS3 -786T>C and 894G>T polymorphisms in modulating both the hemorheologic parameters and the susceptibility to the disease
Fatini C, et al.
Arthritis Rheum 2006 Jun;54(7):2263-70

Association of polymorphisms in forkhead box C2 and perilipin genes with bone mineral density in community-dwelling Japanese individuals
Yamada Y, et al.
Int J Mol Med 2006 Jul;18(1):119-27

Association of mannose-binding lectin gene polymorphisms with antiphospholipid syndrome, cardiovascular disease and chronic damage in patients with systemic lupus erythematosus
Font J, et al.
Rheumatology (Oxford) 2006 Jun

 

Certain Conditions Originating in the Perinatal Period

High prevalence of mannose-binding lectin (MBL) deficiency in premature neonates
Frakking FN, et al.
Clin Exp Immunol 2006 Jul;145(1):5-12

 

Symptoms, Signs and Ill-defined Conditions

Paraoxonase activity and genotype predispose to successful aging
Marchegiani F, et al.
J Gerontol A Biol Sci Med Sci 2006 Jun;61(6):541-6

A Polymorphism of the YTHDF2 Gene (1p35) Located in an Alu-Rich Genomic Domain Is Associated With Human Longevity
Cardelli M, et al.
J Gerontol A Biol Sci Med Sci 2006 Jun;61(6):547-56

 

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