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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 23, 2006
Volume 16, No. 8

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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 KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore
Koo SH, et al.
Br J Clin Pharmacol 2006 Mar;61(3):301-8

CYP2C8 polymorphism among the Portuguese
Cavaco I, et al.
Clin Chem Lab Med 2006;44(2):168-70

 

Infectious and Parasitic Diseases

Cytotoxic T-lymphocyte antigen 4 gene polymorphisms and susceptibility to chronic hepatitis B
Mohammad Alizadeh AH, et al.
World J Gastroenterol 2006 Jan;12(4):630-5

Interferon-gamma Gene (T874A and G2109A) Polymorphisms Are Associated With Microscopy-positive Tuberculosis
Etokebe GE, et al.
Scand J Immunol 2006 Feb;63(2):136-41

Interferon-gamma Receptor-1 Gene Promoter Polymorphisms (G-611A; T-56C) and Susceptibility to Tuberculosis
Bulat-Kardum L, et al.
Scand J Immunol 2006 Feb;63(2):142-50

Analysis of CCR5, CCR2, CX(3)CR1, and SDF1 Polymorphisms in HIV-Positive Treated Patients: Impact on Response to HAART and on Peripheral T Lymphocyte Counts
Puissant B, et al.
AIDS Res Hum Retroviruses 2006 Feb;22(2):153-62

 

Neoplasms

Association between MDM2-SNP309 and age at colorectal cancer diagnosis according to p53 mutation status
Menin C, et al.
J Natl Cancer Inst 2006 Feb;98(4):285-8

Characterization of BRCA1 and BRCA2 Mutations in a Large United States Sample
Chen S, et al.
J Clin Oncol 2006 Feb;24(6):863-71

MDR1 Polymorphisms Predict the Response to Etoposide-Cisplatin Combination Chemotherapy in Small Cell Lung Cancer
Sohn JW, et al.
Jpn J Clin Oncol 2006 Feb

ARLTS1 variants and risk of colorectal cancer
Frank B, et al.
Cancer Lett 2006 Feb

Association of Polymorphisms of p21(cip1) and p27(kip1) Genes with Susceptibilities of Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma
Guo W, et al.
Ai Zheng 2006 Feb;25(2):194-9

Low Frequency of BRAF Mutations in Adult Patients with Papillary Thyroid Cancers Following Childhood Radiation Exposure
Collins BJ, et al.
Thyroid 2006 Jan;16(1):61-6

Influence of CYP1A1, CYP2E1, GSTM3 and NAT2 genetic polymorphisms in oral cancer susceptibility: Results from a case-control study in Rio de Janeiro
Marques CF, et al.
Oral Oncol 2006 Feb

Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses
Garcia-Closas M, et al.
Hum Genet 2006 Feb

Polymorphisms in the genes involved in the arachidonic acid-pathway, fish consumption and the risk of colorectal cancer
Siezen CL, et al.
Int J Cancer 2006 Feb

Interleukin-10 promoter polymorphisms in patients with hepatitis B virus infection or hepatocellular carcinoma in Chinese Han ethnic population
Wang J, et al.
Hepatobiliary Pancreat Dis Int 2006 Feb;5(1):60-4

Association of TNF-alpha polymorphism with susceptibility to and severity of non-small cell lung cancer
Shih CM, et al.
Lung Cancer 2006 Feb

Influence of single nucleotide polymorphisms in H-Ras and cyclin D1 genes on oral cancer susceptibility
Sathyan KM, et al.
Oral Oncol 2006 Feb

Haplotype Analysis of the HSD17B1 Gene and Risk of Breast Cancer: A Comprehensive Approach to Multicenter Analyses of Prospective Cohort Studies
Feigelson HS, et al.
Cancer Res 2006 Feb;66(4):2468-75

GSTT1 polymorphism and oral leukoplakia
Barroso Duarte EC, et al.
Anticancer Res 2006 Jan-2006 Feb;26(1A):427-30

COX-2 Polymorphism, Use of Nonsteroidal Anti-Inflammatory Drugs, and Risk of Colon Cancer in African Americans (United States)
Sansbury LB, et al.
Cancer Causes Control 2006 Apr;17(3):257-66

The Clinical Value of Somatic TP53 Gene Mutations in 1,794 Patients with Breast Cancer
Olivier M, et al.
Clin Cancer Res 2006 Feb;12(4):1157-67

PPARgamma and Colon and Rectal Cancer: Associations with Specific Tumor Mutations, Aspirin, Ibuprofen and Insulin-Related Genes (United States)
Slattery ML, et al.
Cancer Causes Control 2006 Apr;17(3):239-49

The Cyclooxygenase-2 (PTGS2) 8473T>C Polymorphism is Associated with Breast Cancer Risk
Langsenlehner U, et al.
Clin Cancer Res 2006 Feb;12(4):1392-4

Association of p53 Codon 72 Polymorphism with Risk of Hypopharyngeal Squamous Cell Carcinoma in Taiwan
Twu CW, et al.
J Formos Med Assoc 2006 Feb;105(2):99-104

 

Endocrine, Nutritional and Metabolic Diseases

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
Loidi L, et al.
Clin Endocrinol (Oxf) 2006 Mar;64(3):330-6

Interaction between Mediterranean diet and methylenetetrahydrofolate reductase C677T mutation on oxidized low density lipoprotein concentrations: The ATTICA study
Pitsavos C, et al.
Nutr Metab Cardiovasc Dis 2006 Mar;16(2):91-9

Relationship between genotype and enzyme activity of glutathione S-transferases M1 and P1 in Chinese
Zhong SL, et al.
Eur J Pharm Sci 2006 Feb

Preproghrelin Leu72Met polymorphism is not associated with type 2 diabetes mellitus
Kim SY, et al.
Metabolism 2006 Mar;55(3):366-70

Hypertension, obesity and gnb3 gene variants
Danoviz ME, et al.
Clin Exp Pharmacol Physiol 2006 Mar;33(3):248-52

 

Diseases of the Blood and Blood-Forming Organs Disorders

Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis
Filippi PD, et al.
Br J Haematol 2006 Mar;132(6):784-7

 

Mental Disorders

The influence of the CYP2D6 polymorphism on psychopathological and extrapyramidal symptoms in the patients on long-term antipsychotic treatment
Kores Plesnicar B, et al.
J Psychopharmacol 2006 Feb

Significant Association Between the Genetic Variations in the 5' End of the N-Methyl-D-Aspartate Receptor Subunit Gene GRIN1 and Schizophrenia
Zhao X, et al.
Biol Psychiatry 2006 Feb

Distinguishable Haplotype Blocks in the HTR3A and HTR3B Region in the Japanese Reveal Evidence of Association of HTR3B with Female Major Depression
Yamada K, et al.
Biol Psychiatry 2006 Feb

Association between Two {micro} Opioid Receptor Gene (OPRM1) Haplotype Blocks and Drug or Alcohol Dependence
Zhang H, et al.
Hum Mol Genet 2006 Feb

 

Diseases of the Nervous System and Sense Organs

No Genetic Association between the Myeloperoxidase Gene -463 Polymorphism and Estrogen Receptor-alpha Gene Polymorphisms and Japanese Sporadic Alzheimer's Disease
Usui C, et al.
Dement Geriatr Cogn Disord 2006 Feb;21(5-6):296-9

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management
Szigeti K, et al.
Genet Med 2006 Feb;8(2):86-92

Serotonin transporter gene promoter polymorphism and autism: A family-based genetic association study in Japanese population
Koishi S, et al.
Brain Dev 2006 Feb

ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease
Ahn Jo S, et al.
Clin Chim Acta 2006 Feb

PINK1 mutations in sporadic early-onset Parkinson's disease
Tan EK, et al.
Mov Disord 2006 Feb

Apolipoprotein E and dementia in Parkinson disease: a meta-analysis
Huang X, et al.
Arch Neurol 2006 Feb;63(2):189-93

Polymorphism in semaphorin 5A (Sema5A) gene is not a marker of Parkinson's disease risk
Bialecka M, et al.
Neurosci Lett 2006 Feb

 

Diseases of the Circulatory System

Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing
Tester DJ, et al.
J Am Coll Cardiol 2006 Feb;47(4):764-8

Factor v kuwait: a novel mutation in the coagulation factor v gene discovered in kuwait
Jadaon MM, et al.
Med Princ Pract 2006;15(2):102-5

Effects of polymorphisms in chemokine ligands and receptors on susceptibility to coronary artery disease
Apostolakis S, et al.
Thromb Res 2006 Feb

beta1-adrenergic receptor gene polymorphisms in Mexican patients with idiopathic dilated cardiomyopathy
Fragoso JM, et al.
Exp Mol Pathol 2006 Feb

The COX-2 G/C -765 polymorphism may modulate the occurrence of cerebrovascular ischemia
Colaizzo D, et al.
Blood Coagul Fibrinolysis 2006 Mar;17(2):93-6

Estrogen receptor 1 haplotype does not regulate oral contraceptive-induced changes in haemostasis and inflammation risk factors for venous and arterial thrombosis
de Maat MP, et al.
Hum Reprod 2006 Feb

677TT polymorphism of methylenetetrahydrofolate reductase in combination with low serum vitamin B(12) is associated with coronary in-stent restenosis
Chung SL, et al.
Catheter Cardiovasc Interv 2006 Feb

Aldosterone synthase -344C/T and angiotensin-converting enzyme I/D polymorphisms in Turkish hypertensive patients with normal coronary arteries
Olcay A, et al.
Acta Cardiol 2006 Feb;61(1):29-34

Estrogen Receptor {alpha} Gene Variation Is Associated With Risk of Myocardial Infarction in More Than Seven Thousand Men From Five Cohorts
Shearman AM, et al.
Circ Res 2006 Feb

Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on plasma homocysteine levels and relation to risk of coronary artery disease
Laraqui A, et al.
Acta Cardiol 2006 Feb;61(1):51-61

The relevance of CYP2D6 genetic polymorphism on chronic metoprolol therapy in cardiovascular patients
Ismail R & Teh LK
J Clin Pharm Ther 2006 Feb;31(1):99-109

 

Diseases of the Respiratory System

Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease
Karinen H, et al.
Scand J Gastroenterol 2006 Feb;41(2):191-9

Elevated levels of mannan-binding leptin (MBL) and eosinophilia in patients of bronchial asthma with allergic rhinitis and allergic bronchopulmonary aspergillosis associate with a novel intronic polymorphism in MBL
Kaur S, et al.
Clin Exp Immunol 2006 Mar;143(3):414-9

Polymorphism of the angiotensin-converting enzyme gene affects the outcome of acute respiratory distress syndrome*
Jerng JS, et al.
Crit Care Med 2006 Apr;Publish Ahead of Print

Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP
Donfack J, et al.
Int J Pediatr Otorhinolaryngol 2006 Feb

 

Diseases of the Digestive System

Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis
Liu HY, et al.
Hepatobiliary Pancreat Dis Int 2006 Feb;5(1):129-32

ACE Gene D/D Genotype as a Risk Factor for Chronic Nephrotoxicity from Calcineurin Inhibitors in Liver Transplant Recipients
Gallon L, et al.
Transplantation 2006 Feb;81(3):463-8

Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease
Schnitzler F, et al.
Immunogenetics 2006 Feb

Polymorphisms in interleukin-10 gene according to mutations of NOD2/CARD15 gene and relation to phenotype in Spanish patients with Crohn's disease
Mendoza JL, et al.
World J Gastroenterol 2006 Jan;12(3):443-8

Severity of ulcerative colitis is associated with a polymorphism at diamine oxidase gene but not at histamine N-methyltransferase gene
Garcia-Martin E, et al.
World J Gastroenterol 2006 Jan;12(4):615-20

Mannan-binding lectin in children with chronic gastritis
Bak-Romaniszyn L, et al.
Scand J Immunol 2006 Feb;63(2):131-5

 

Diseases of the Genitourinary System

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review
Franceschini N, et al.
Genet Med 2006 Feb;8(2):63-75

Germline p53 single-base changes associated with Balkan endemic nephropathy
Krasteva ME & Georgieva EI
Biochem Biophys Res Commun 2006 Feb

A large deletion in the CFTR gene in CBAVD
Hantash FM, et al.
Genet Med 2006 Feb;8(2):93-5

MTHFR C677T polymorphism, GSTM1 deletion and male infertility: a possible suggestion of a gene-gene interaction?
Paracchini V, et al.
Biomarkers 2006 Jan-2006 Feb;11(1):53-60

Screening of FSH receptor gene mutation (C566T) in azoospermic men in Japan
Ishikawa T, et al.
Arch Androl 2006 Jan-2006 Feb;52(1):15-9

Plasminogen activator inhibitor activity, 4G5G polymorphism of the plasminogen activator inhibitor 1 gene, and first-trimester miscarriage in women with polycystic ovary syndrome
Glueck CJ, et al.
Metabolism 2006 Mar;55(3):345-52

Effect modification by delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase gene polymorphisms on associations between patella lead and renal function in lead workers
Weaver VM, et al.
Environ Res 2006 Feb

Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men
Harris TP, et al.
Int J Androl 2006 Feb

Significant impact of 5alpha-reductase type 2 polymorphisms on sperm concentration and motility
Elzanaty S, et al.
Int J Androl 2006 Feb

 

Diseases of the Skin and Subcutaneous Tissue

Analysis of the monocyte chemoattractant protein 1 -2518 promoter polymorphism in korean patients with alopecia areata
Hong SB, et al.
J Korean Med Sci 2006 Feb;21(1):90-4

Analysis of GM-CSF gene polymorphisms (3606T/C and 3928C/T) in Japanese patients with atopic dermatitis
Saeki H, et al.
Clin Exp Dermatol 2006 Mar;31(2):278-80

Toll-like receptor (TLR) 4 polymorphisms are associated with a chronic course of sarcoidosis
Pabst S, et al.
Clin Exp Immunol 2006 Mar;143(3):420-6

HLA Allele Associations and V-Beta T-Lymphocyte Expansions in Patients With Psoriasis, Harboring Toxin-Producing Staphylococcus aureus
Ajib R, et al.
J Biomed Biotechnol 2005;2005(4):310-5

 

Diseases of the Musculoskeletal System and Connective Tissue

Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study
Ralston SH, et al.
PLoS Med 2006 Feb;3(4):e90

Epistatic interaction between FCRL3 and NFKB1 genes in Spanish Rheumatoid Arthritis patients
Martinez A, et al.
Ann Rheum Dis 2006 Feb

 

Congenital Anomalies

MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
Rai AK, et al.
J Hum Genet 2006 Feb

 

Certain Conditions Originating in the Perinatal Period

Angiotensinogen gene variants and small-for-gestational-age infants
Tower C, et al.
BJOG 2006 Mar;113(3):335-9

Maternal smoking during pregnancy and genetic polymorphisms in the Ah receptor, CYP1A1 and GSTM1 affect infant birth size in Japanese subjects
Sasaki S, et al.
Mol Hum Reprod 2006 Feb

 

Symptoms, Signs and Ill-defined Conditions

Different effects of fluvoxamine on rabeprazole pharmacokinetics in relation to CYP2C19 genotype status
Uno T, et al.
Br J Clin Pharmacol 2006 Mar;61(3):309-14

Apolipoprotein E genotype is related to plasma levels of C-reactive protein and lipids and to longevity in nonagenarians
Rontu R, et al.
Clin Endocrinol (Oxf) 2006 Mar;64(3):265-70

Association of APOE e4 and cerebrovascular pathology in traumatic brain injury
Smith C, et al.
J Neurol Neurosurg Psychiatry 2006 Mar;77(3):363-6

 

Injury and Poisoning

Association between metabolic gene polymorphisms and susceptibility to peripheral nerve damage in workers exposed to n-hexane: A preliminary study
Zhang Y, et al.
Biomarkers 2006 Jan-2006 Feb;11(1):61-9

 

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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