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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 11, 2007
Volume 18, 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

Genetic polymorphisms of cytochrome p450 enzymes 2c9 and 2c19 in a healthy Iranian population
Zand N, et al.
Clin Exp Pharmacol Physiol 2007 Jan-2007 Feb;34(1-2):102-5

RHD 1227A Allele Frequency among Rh Negative Population and Random Population
Wu JJ, et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2006 Dec;14(6):1234-7

 

Infectious and Parasitic Diseases

Association between cluster of differentiation 14 polymorphism and susceptibility of infection
Leng WJ, et al.
Zhongguo Wei Zhong Bing Ji Jiu Yi Xue 2007 Jan;19(1):17-20

Lack of association between leptin G2548A gene polymorphism and Behcet's disease
Aydin F, et al.
J Eur Acad Dermatol Venereol 2007 Jan;21(1):68-71

Vitamin D Receptor Polymorphism among Rickets Children in Mongolia
Kaneko A, et al.
J Epidemiol 2007 Jan;17(1):25-9

Variable Number of Tandem Repeats of TNF Receptor Type 2 Promoter as Genetic Biomarker of Susceptibility to Develop Invasive Pulmonary Aspergillosis
Sainz J, et al.
Hum Immunol 2007 Jan;68(1):41-50

Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance
Park BL, et al.
Exp Mol Med 2006 Dec;38(6):694-702

Association analyses of NCR3 polymorphisms with P. falciparum mild malaria
Delahaye NF, et al.
Microbes Infect 2006 Dec

Anti-inflammatory cytokines gene polymorphisms in sarcoidosis
Morais A, et al.
Rev Port Pneumol 2006 Dec;12(6 Suppl 1):16-7           

 

Neoplasms

Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer
Salgado J, et al.
Oncol Rep 2007 Feb;17(2):325-8

Influence of MMP-2 and MMP-9 promoter polymorphisms on gene expression and clinical outcome of non-small cell lung cancer
Rollin J, et al.
Lung Cancer 2007 Jan

An increased lung cancer risk associated with codon 72 polymorphism in the TP53 gene and human papillomavirus infection in Mazandaran province, Iran
Nadji SA, et al.
Lung Cancer 2007 Jan

Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer
Gotze T, et al.
Cancer Lett 2007 Jan

Different effects of polymorphisms of tumor necrosis factor-alpha and interleukin-1 beta on development of peptic ulcer and gastric cancer
Sugimoto M, et al.
J Gastroenterol Hepatol 2007 Jan;22(1):51-9

Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China
Wang Y, et al.
Cancer Causes Control 2007 Jan

Genetic variation in the base excision repair pathway and bladder cancer risk
Figueroa JD, et al.
Hum Genet 2007 Jan

Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas
Gorgens H, et al.
Oral Oncol 2007 Jan

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman N, et al.
Nat Genet 2006 Dec

NAT2 gene polymorphism and sporadic colorectal cancer: prevalence, tumor stage and prognosis. A preliminary study in 70 patients
Osian G, et al.
J Gastrointestin Liver Dis 2006 Dec;15(4):347-53

Role of the HLA-DQ locus in the development of chronic gastritis and gastric carcinoma in Mexican patients
Herrera-Goepfert R, et al.
World J Gastroenterol 2006 Dec;12(48):7762-7

Glutathione-S-transferase M1 polymorphisms on the susceptibility to esophageal cancer among three Chinese minorities: Kazakh, Tajik and Uygur
Lu XM, et al.
World J Gastroenterol 2006 Dec;12(48):7758-61

 

Endocrine, Nutritional and Metabolic Diseases

Apolipoprotein E genotype affects the response to lipid-lowering therapy in Chinese patients with type 2 diabetes mellitus
Tavintharan S, et al.
Diabetes Obes Metab 2007 Jan;9(1):81-6

Functional SNPs in the Secretogranin III (SCG3) Gene that Forms Secretory Granules with Appetite-Related Neuropeptides are Associated with Obesity
Tanabe A, et al.
J Clin Endocrinol Metab 2007 Jan

Polymorphism A36G of the tumor necrosis factor receptor 1 gene is associated with PAI-1 levels in obese women
Mavri A, et al.
Thromb Haemost 2007 Jan;97(1):62-6

The G277S transferrin mutation does not affect iron absorption in iron deficient women
Sarria B, et al.
Eur J Nutr 2007 Jan

Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes
Payne F, et al.
J Leukoc Biol 2007 Jan

Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study
Loos RJ, et al.
Am J Clin Nutr 2007 Jan;85(1):26-34

FABP2 Ala54Thr genotype is associated with glucoregulatory function and lipid oxidation after a high-fat meal in sedentary nondiabetic men and women
Weiss EP, et al.
Am J Clin Nutr 2007 Jan;85(1):102-8

ANALYSIS OF THE FC-RECEPTOR LIKE-3 (FCRL3) LOCUS IN CAUCASIANS WITH AUTOIMMUNE DISORDERS SUGGESTS A COMPLEX PATTERN OF DISEASE ASSOCIATION
Owen CJ, et al.
J Clin Endocrinol Metab 2007 Jan

PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children
Ni R, et al.
Hum Genet 2007 Jan

An estrogen metabolism-related polymorphism of the 17-alpha HSD gene is associated with perimenopausal body mass index
Tempfer CB, et al.
Fertil Steril 2007 Jan

The 4G/4G PAI-1 genotype is associated with elevated plasma PAI-1 levels regardless of variables of the metabolic syndrome and smoking status. A population-based study in Spanish population
Martinez-Calatrava MJ, et al.
Diabetes Obes Metab 2007 Jan;9(1):134-5

Impact of Recipient HLA-C in Liver Transplant: A Protective Effect of HLA-Cw*07 on
Acute Rejection
Moya-Quiles MR, et al.
Hum Immunol 2007 Jan;68(1):51-8

Genetic Variations of HLA-DRB1 and Susceptibility to Kawasaki Disease in Taiwanese Children
Huang FY, et al.
Hum Immunol 2007 Jan;68(1):69-74

Lipoprotein-associated phospholipase A2 A379V variant is associated with body composition changes in response to exercise training
Wootton PT, et al.
Nutr Metab Cardiovasc Dis 2007 Jan;17(1):24-31

Impact of the sulfonylurea receptor 1 (SUR1) exon 16-3c/t polymorphism on acute hyperglycaemia in type 2 diabetic patients
Dworacka M, et al.
Diabetes Res Clin Pract 2007 Jan

Cytokine promoter polymorphisms in Taiwanese patients with Graves' disease
Shiau MY, et al.
Clin Biochem 2006 Dec

 

Diseases of the Blood & Blood-Forming Organ Disorders

Dose-related efficacy of aspirin after coronary surgery in patients With Pl(A2) polymorphism (NCT00262275)
Lim E, et al.
Ann Thorac Surg 2007 Jan;83(1):134-8

A sequence variation scan of the coagulation factor (F)VIII structural gene and associations with plasma FVIII activity (FVIII:C) levels
Viel KR, et al.
Blood 2007 Jan

Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants
Ito K, et al.
Tohoku J Exp Med 2007 Jan;211(1):1-8

 

Mental Disorders

Nucleotide sequence variation within the human tyrosine kinase B neurotrophin receptor gene: association with antisocial alcohol dependence
Xu K, et al.
Pharmacogenomics J 2007 Jan

GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence
Soyka M, et al.
J Psychiatr Res 2007 Jan

A Functional Polymorphism of the mu-Opioid Receptor Gene (OPRM1) Influences Cue-Induced Craving for Alcohol in Male Heavy Drinkers
van den Wildenberg E, et al.
Alcohol Clin Exp Res 2007 Jan;31(1):1-10

The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy
Laberge L, et al.
Clin Genet 2007 Jan;71(1):59-66

 

Diseases of the Nervous System and Sense Organs

Cognitive performance in elderly women: significance of the 19bp insertion/deletion polymorphism in the 5' flank of the dopamine beta-hydroxylase gene, educational level, body fat measures, serum triglyceride, alcohol consumption and age
Togsverd M, et al.
Int J Geriatr Psychiatry 2007 Jan

Gender-Specific Effects of the Catechol-O-Methyltransferase Val108/158Met Polymorphism on Cognitive Function in Children
Barnett JH, et al.
Am J Psychiatry 2007 Jan;164(1):142-9

DQB1*0301 and DQB1*0601 Modulate Narcolepsy Susceptibility in Koreans
Hong SC, et al.
Hum Immunol 2007 Jan;68(1):59-68

Phenotypic associations of tau and ApoE in Parkinson's disease
Papapetropoulos S, et al.
Neurosci Lett 2007 Jan

Is alpha-T catenin (VR22) an Alzheimer's disease risk gene?
Bertram L, et al.
J Med Genet 2007 Jan;44(1):e63

APOE Genotype and Cognitive Functioning in a Large Age-Stratified Population Sample
Jorm AF, et al.
Neuropsychology 2007 Jan;21(1):1-8

Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels
Coutinho AM, et al.
Hum Genet 2007 Jan

No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population
Ahn K, et al.
Exp Mol Med 2006 Dec;38(6):727-31

 

Diseases of the Circulatory System

Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels
Asselbergs FW, et al.
Genomics 2007 Jan

No interaction between factor V Leiden and hyperhomocysteinemia or MTHFR 677TT genotype in venous thrombosis. Results of a meta-analysis of published studies and a large case-only study
Keijzer MB, et al.
Thromb Haemost 2007 Jan;97(1):32-7

The Thr715Pro Polymorphism of the P-Selectin Gene Is Not Associated With Ischemic Stroke Risk
Ferrari J, et al.
Stroke 2007 Jan

The effect of glycoprotein IIIa A1/A2 gene polymorphism on one-year outcome in patients with ST-segment elevation myocardial infarction treated with primary percutaneous coronary intervention
Kozieradzka A, et al.
Kardiol Pol 2006 Dec;64(12):1350-5

Catechol-o-methyltransferase gene polymorphism modifies the effect of coffee intake on incidence of acute coronary events
Happonen P, et al.
PLoS ONE 2006;1:e117



Diseases of the Respiratory System

ATM gene mutations in former uranium miners of SDAG Wismut: A pilot study
Schneider J, et al.
Oncol Rep 2007 Feb;17(2):477-82

Relationship between COPD and polymorphisms of HOX-1 and mEPH in a Chinese population
Fu WP, et al.
Oncol Rep 2007 Feb;17(2):483-8

Association between the IL-4 promoter polymorphisms and asthma or severity of hyperresponsiveness in Taiwanese
Chiang CH, et al.
Respirology 2007 Jan;12(1):42-8

Lack of association between the microsatellite polymorphism in intron 2 of human Toll-like receptor 2 gene and bronchiectasis among Koreans
Kim HJ, et al.
Respirology 2007 Jan;12(1):49-53

Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD
Liu S, et al.
Respirology 2007 Jan;12(1):29-33

Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes
Bernstein DI, et al.
Ann Allergy Asthma Immunol 2006 Dec;97(6):800-6

 

Diseases of the Digestive System

The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients
Riis L, et al.
Inflamm Bowel Dis 2007 Jan;13(1):24-32

Multidrug resistance gene-1 polymorphisms and resistance to cyclosporine a in patients with steroid resistant ulcerative colitis
Daniel F, et al.
Inflamm Bowel Dis 2007 Jan;13(1):19-23

Macrophage migration inhibitory factor (MIF) -173G/C promoter polymorphism influences upper gastrointestinal tract involvement and disease activity in patients with Crohn's disease
Dambacher J, et al.
Inflamm Bowel Dis 2007 Jan;13(1):71-82

Relationship between clinical features of Crohn's disease and the risk of developing extraintestinal manifestations
Barreiro-de Acosta M, et al.
Eur J Gastroenterol Hepatol 2007 Jan;19(1):73-8

Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease
Stocco G, et al.
Inflamm Bowel Dis 2007 Jan;13(1):57-64

High prevalence of alpha-1-antitrypsin heterozygosity in children with chronic liver disease
Campbell KM, et al.
J Pediatr Gastroenterol Nutr 2007 Jan;44(1):99-103

Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease
Bresso F, et al.
Inflamm Bowel Dis 2006 Dec

Antibodies to Saccharomyces cerevisiae in Crohn's disease: Higher titers are associated with a greater frequency of mutant NOD2/CARD15 alleles and with a higher probability of complicated disease
Dassopoulos T, et al.
Inflamm Bowel Dis 2006 Dec

Genetic risk factors in patients with inflammatory bowel disease and vascular complications: Case-control study
Koutroubakis IE, et al.
Inflamm Bowel Dis 2006 Dec

A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
Hampe J, et al.
Nat Genet 2006 Dec

 

Diseases of the Genitourinary System

Association of interleukin (IL)-4 intron-3 and IL-6 -174 G/C gene polymorphism with susceptibility to end-stage renal disease
Mittal RD & Manchanda PK
Immunogenetics 2007 Jan

A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans
Freedman BI, et al.
Nephrol Dial Transplant 2007 Jan

 

Diseases of the Musculoskeletal System and Connective Tissue

Klotho Gene Polymorphism and Male Bone Mass
Zarrabeitia MT, et al.
Calcif Tissue Int 2007 Jan

Q89R polymorphism in the LDL receptor-related protein 5 gene is associated with spinal osteoarthritis in postmenopausal Japanese women
Urano T, et al.
Spine 2007 Jan;32(1):25-9

Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women
Oh B, et al.
J Med Genet 2007 Jan;44(1):e62

The Effect of Interleukin-1alpha Polymorphisms on Bone Mineral Density and the Risk of Vertebral Fractures
Knudsen S, et al.
Calcif Tissue Int 2007 Jan

NO ASSOCIATIONS BETWEEN GENETIC POLYMORPHISMS OF TGFss, PAI-1, AND COL1A1, AND BONE MINERAL DENSITY IN CAUCASIAN FEMALES
A J, et al.
Endocr Regul 2006 Dec;40(4):107-12

 

Symptoms, Signs and Ill-defined Conditions

APOE and cytokines as biological markers for recovery of prevalent delirium in elderly medical inpatients
Adamis D, et al.
Int J Geriatr Psychiatry 2007 Jan

 

Injury and Poisoning

TNF polymorphism and bronchoalveolar lavage cell TNF-alpha levels in chronic beryllium disease and beryllium sensitization
Sato H, et al.
J Allergy Clin Immunol 2007 Jan

 

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Page last reviewed: January 11, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics