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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
November 16, 2006
Volume 17, No. 20

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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

Angiotensin-converting enzyme gene polymorphism and allele frequencies in the lebanese population: prevalence and review of the literature
Sabbagh AS, et al.
Mol Biol Rep 2006 Nov

Haplotype Frequency Distribution and Linkage Disequilibrium Analysis of Single Nucleotide Polymorphisms at the Human FMO3 Gene Locus
Hao DC, et al.
Biochem Genet 2006 Nov

 

Infectious and Parasitic Diseases

A Polymorphism in the P2X7 Gene Increases Susceptibility to Extrapulmonary Tuberculosis
Fernando SL, et al.
Am J Respir Crit Care Med 2006 Nov

Effect of Genetic Variants of CCR2 and CCL2 on the Natural History of HIV-1 Infection: CCL2-2518GG Is Overrepresented in a Cohort of Spanish HIV-1-Infected Subjects
Vilades C, et al.
J Acquir Immune Defic Syndr 2006 Nov

Roles of Iron and HFE Mutations on Severity and Response to Therapy During Retreatment of Advanced Chronic Hepatitis C
Bonkovsky HL, et al.
Gastroenterology 2006 Nov;131(5):1440-51

           

 

Neoplasms

Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer
Han SH, et al.
Clin Genet 2006 Dec;70(6):496-501

Host Cytokine Genotype is Related to Adverse Prognosis and Systemic Inflammation in Gastro-Oesophageal Cancer
Deans C, et al.
Ann Surg Oncol 2006 Nov

The impact and role of EGFR gene mutation on non-small cell lung cancer
Toyooka S, et al.
Cancer Chemother Pharmacol 2006 Nov

MDM2 SNP309 T>G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients
Talseth BA, et al.
Int J Cancer 2006 Nov

Comprehensive evaluation of genetic variation in the IGF1 gene and risk of prostate cancer
Johansson M, et al.
Int J Cancer 2006 Nov

EGFR Intron 1 Polymorphism in Asian Populations and its Correlation with EGFR Gene Expression and Amplification in Breast Tumor Tissues
Zhou Q, et al.
Cancer Biol Ther 2006 Nov;5(11)

Correlation of p73 Polymorphisms to Genetic Susceptibilities to Esophageal Carcinoma and Gastric Cardiac Carcinoma
Ge H, et al.
Ai Zheng 2006 Nov;25(11):1351-5

Ala394Thr polymorphism in the clock gene NPAS2: A circadian modifier for the risk of non-Hodgkin's lymphoma
Zhu Y, et al.
Int J Cancer 2006 Nov

Association of interleukin-1 gene polymorphisms with gastric cancer: A meta-analysis
Wang P, et al.
Int J Cancer 2006 Nov

Germ-line genetic variation of TP53 in osteosarcoma
Savage SA, et al.
Pediatr Blood Cancer 2006 Nov

SNP polymorphism of LGALS3BP gene in patients with benign and malignant thyroid tumours
Lukienczuk T, et al.
Endokrynol Pol 2006;57(Suppl A):45-51

 

Endocrine, Nutritional and Metabolic Diseases

Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia
Souverein OW, et al.
Eur Heart J 2006 Nov

Weight regain after slimming induced by an energy-restricted diet depends on interleukin-6 and peroxisome-proliferator-activated-receptor-gamma2 gene polymorphisms
Goyenechea E, et al.
Br J Nutr 2006 Nov;96(5):965-72

Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones
Acalovschi M, et al.
Eur J Intern Med 2006 Nov;17(7):490-4

CFTR Genotype as a Predictor of Prognosis in Cystic Fibrosis
McKone EF, et al.
Chest 2006 Nov;130(5):1441-7

Estrogen receptor alpha gene polymorphism associated with type 2 diabetes mellitus and the serum lipid concentration in Chinese women in Guangzhou
Huang Q, et al.
Chin Med J (Engl) 2006 Nov;119(21):1794-801

Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population
Chandak GR, et al.
Diabetologia 2006 Nov

Effect of the peroxisome proliferators-activated receptor (PPAR) gamma 3 gene on BMI in 1,210 school students from Morelos, Mexico
Chen L, et al.
Pac Symp Biocomput 2006:467-77

The K469E polymorphism of the intracellular adhesion molecule 1 (ICAM-1) gene is not associated with myocardial infarction in caucasians with type 2 diabetes
Milutinovic A & Petrovic D
Folia Biol (Praha) 2006;52(3):79-80

 

Diseases of the Blood & Blood-Forming Organ Disorders

Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the Reconcavo region of Bahia, Brazil
Silva WD, et al.
Cad Saude Publica 2006 Dec;22(12):2561-6

 

Mental Disorders

Association study of four dopamine D1 receptor gene polymorphisms and clozapine treatment response
Hwang R, et al.
J Psychopharmacol 2006 Nov

Association study of olanzapine-induced weight gain and therapeutic response with SERT gene polymorphisms in female schizophrenic patients
Bozina N, et al.
J Psychopharmacol 2006 Nov

The serotonin 5-HT1D receptor gene and attention-deficit hyperactivity disorder in Chinese Han subjects
Li J, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Nov

The G196A polymorphism of the brain-derived neurotrophic factor gene and the antidepressant effect of milnacipran and fluvoxamine
Yoshida K, et al.
J Psychopharmacol 2006 Nov

Association study of polymorphisms in post-synaptic density protein 95 (PSD-95) with schizophrenia
Tsai SJ, et al.
J Neural Transm 2006 Nov

Family-based association study of serotonergic candidate genes and attention-deficit/hyperactivity disorder in a German sample
Heiser P, et al.
J Neural Transm 2006 Nov

Addiction molecular genetics: 639,401 SNP whole genome association identifies many "cell adhesion" genes
Liu QR, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Nov

Association of the trace amine associated receptor 6 (TAAR6) gene with schizophrenia and bipolar disorder in a Korean case control sample
Pae CU, et al.
J Psychiatr Res 2006 Nov

RGS4 is not a susceptibility gene for schizophrenia in Japanese: Association study in a large case-control population
Ishiguro H, et al.
Schizophr Res 2006 Nov

Serotonin and dopamine receptor gene polymorphisms and the risk of extrapyramidal side effects in perphenazine-treated schizophrenic patients
Gunes A, et al.
Psychopharmacology (Berl) 2006 Nov           

 

Diseases of the Nervous System and Sense Organs

Role of 5HT(2A) and 5HT(2C) polymorphisms in behavioural and psychological symptoms of Alzheimer's disease
Pritchard AL, et al.
Neurobiol Aging 2006 Nov

No association between polymorphisms in the brain-derived neurotrophic factor gene and age at onset in Huntington disease
Mai M, et al.
BMC Med Genet 2006 Nov;7(1):79

Prospective memory and apolipoprotein e in healthy aging and early stage Alzheimer's disease
Duchek JM, et al.
Neuropsychology 2006 Nov;20(6):633-44

Association between a 19 bp deletion polymorphism at the dopamine beta-hydroxylase (DBH) locus and migraine with aura
Fernandez F, et al.
J Neurol Sci 2006 Nov

Genetic analysis of LRRK2 mutations in patients with Parkinson disease
Deng H, et al.
J Neurol Sci 2006 Nov

OAS1 gene haplotype confers susceptibility to multiple sclerosis
Fedetz M, et al.
Tissue Antigens 2006 Nov;68(5):446-9

Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women
Labate A, et al.
Neurosci Lett 2006 Nov

Apolipoprotein E {varepsilon}4 and Age at Onset of Sporadic and Familial Alzheimer Disease in Caribbean Hispanics
Olarte L, et al.
Arch Neurol 2006 Nov;63(11):1586-90

The M694V Variant of the Familial Mediterranean Fever Gene Is Associated with Sporadic Early-Onset Alzheimer's Disease in an Italian Population Sample
Arra M, et al.
Dement Geriatr Cogn Disord 2006 Nov;23(1):55-9

The Influence of APOE Status on Episodic and Semantic Memory: Data From a Population-Based Study
Nilsson LG, et al.
Neuropsychology 2006 Nov;20(6):645-57

 

Diseases of the Circulatory System

{beta}2-Adrenergic Receptor Genotype and Pulmonary Function in Patients With Heart Failure
Snyder EM, et al.
Chest 2006 Nov;130(5):1527-34

CD14 C (-260)T polymorphism, atherosclerosis, elderly: Role of cytokines and metallothioneins
Giacconi R, et al.
Int J Cardiol 2006 Nov

High von Willebrand factor levels increase the risk of first ischemic stroke: influence of ADAMTS13, inflammation, and genetic variability
Bongers TN, et al.
Stroke 2006 Nov;37(11):2672-7

Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients
Garcia-Castro M, et al.
Int J Cardiol 2006 Nov

Genetic Variation Is Associated With C-Reactive Protein Levels in the Third National Health and Nutrition Examination Survey
Crawford DC, et al.
Circulation 2006 Nov

LGALS2 functional variant rs7291467 is not associated with susceptibility to myocardial infarction in Caucasians
Mangino M, et al.
Atherosclerosis 2006 Nov

GLU-27 variant of beta2-adrenergic receptor polymorphisms is an independent risk factor for coronary atherosclerotic disease
Barbato E, et al.
Atherosclerosis 2006 Nov

New Insight Into the Association of Apolipoprotein E Genetic Variants With Carotid Plaques and Intima-Media Thickness
Debette S, et al.
Stroke 2006 Nov

The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and Arg677Trp polymorphisms with rheumatic heart disease
Duzgun N, et al.
Clin Rheumatol 2006 Nov

Risk factor interactions and genetic effects associated with post-operative atrial fibrillation
Motsinger AA, et al.
Pac Symp Biocomput 2006:584-95

Toll-like receptor 4 polymorphism is associated with coronary stenosis but not with the occurrence of acute or old myocardial infarctions
Hernesniemi J, et al.
Scand J Clin Lab Invest 2006;66(8):667-76

 

Diseases of the Respiratory System

Polymorphism of egfr Intron1 is Associated with Susceptibility and Severity of Asthma
Wang X, et al.
J Asthma 2006 Nov;43(9):711-5

Functional Polymorphism in the Suppressor of Cytokine Signaling 1 Gene Associated With Adult Asthma
Harada M, et al.
Am J Respir Cell Mol Biol 2006 Nov

Heterozygotes of NOS3 Polymorphisms Contribute to Reduced Nitrogen Oxides in High-Altitude Pulmonary Edema
Ahsan A, et al.
Chest 2006 Nov;130(5):1511-9

Polymorphisms in the IL-13 and IL-4 receptor alpha genes and allergic rhinitis
Kim JJ, et al.
Eur Arch Otorhinolaryngol 2006 Nov

 

Diseases of the Digestive System

Homozygosity for the CARD15 frameshift mutation 1007fs is predictive of early onset of Crohn's disease with ileal stenosis, entero-enteral fistulas, and frequent need for surgical intervention with high risk of re-stenosis
Seiderer J, et al.
Scand J Gastroenterol 2006 Dec;41(12):1421-32

The relationship of IL-1beta expressed in buccal cells and the polymorphisms of IL-1beta(+3953) with chronic periodontitis
Tian YG, et al.
Shanghai Kou Qiang Yi Xue 2006 Dec;15(6):456-60

A Population-Based Case-Control Study of CARD15 and Other Risk Factors in Crohn's Disease and Ulcerative Colitis
Brant SR, et al.
Am J Gastroenterol 2006 Nov

Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis
Karlsen TH, et al.
Am J Gastroenterol 2006 Nov

 

Diseases of the Genitourinary System

Paraoxonase 2 (PON2) polymorphisms and development of renal dysfunction in type 2 diabetes: UKPDS 76
Calle R, et al.
Diabetologia 2006 Dec;49(12):2892-9

Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility
Galan JJ, et al.
Hum Reprod 2006 Nov

Glu298Asp and NOS4ab polymorphisms in diabetic nephropathy
Mollsten A, et al.
Ann Med 2006;38(7):522-8

Influence of endothelin-1 gene polymorphisms on the progression of autosomal dominant polycystic kidney disease
Reiterova J, et al.
Kidney Blood Press Res 2006;29(3):182-8

 

Complications of Pregnancy, Childbirth, and the Puerperium

Inherited thrombophilias and pre-eclampsia in Brazilian women
Dusse LM, et al.
Eur J Obstet Gynecol Reprod Biol 2006 Nov

Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage
Kaare M, et al.
Hum Reprod 2006 Nov

Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos
Bae J, et al.
Fertil Steril 2006 Nov

 

Diseases of the Musculoskeletal System and Connective Tissue

Mannan-binding lectin and complement C4A in Icelandic multicase families with systemic lupus erythematosus
Saevarsdottir S, et al.
Ann Rheum Dis 2006 Nov;65(11):1462-7

The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever
Turkcapar N, et al.
Rheumatol Int 2006 Nov

The synergistic effect of FC gamma receptor IIa and interleukin-10 genes on the risk to develop systemic lupus erythematosus in Thai population
Hirankarn N, et al.
Tissue Antigens 2006 Nov;68(5):399-406

Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorphism of PTPN22 and the FcgammaRIIa (CD32A) R131 allele
Balada E, et al.
Tissue Antigens 2006 Nov;68(5):432-8

BRIEF REPORT: Relationship of the Human Growth Hormone Receptor Exon 3 Genotype with Final Adult Height and Bone Mineral Density
Kenth G, et al.
J Clin Endocrinol Metab 2006 Nov

AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis
Ferrera F, et al.
Clin Immunol 2006 Nov

 

 

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