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Genomics and Health Weekly Update

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

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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

Cytokine single nucleotide polymorphisms in iran
Bagheri M, et al.
J Interferon Cytokine Res 2006 Jun;26(6):414-20

 

Infectious and Parasitic Diseases

Influence of smoking and CYP2C19 genotypes on H. pylori eradication success
Suzuki T, et al.
Epidemiol Infect 2006 Jun:1-6

A cost-effective melting temperature assay for the detection of single-nucleotide polymorphism in the MBL2 gene of HIV-1-infected children
Arraes LC, et al.
Braz J Med Biol Res 2006 Jun;39(6):719-23

PARK2/PACRG polymorphisms and susceptibility to typhoid and paratyphoid fever
Ali S, et al.
Clin Exp Immunol 2006 Jun;144(3):425-31

Angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms in children with subacute sclerosing panencephalitis
Tasdemir N, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

           

 

Neoplasms

IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk
Shen J, et al.
Breast Cancer Res Treat 2006 Jun

Association between the apolipoprotein E genotypes and breast cancer patients in Taiwanese
Chang SJ, et al.
Breast Cancer Res Treat 2006 Jun

Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut
Shen M, et al.
Hum Genet 2006 Jul;119(6):659-68

The polymorphisms of the CYP17 and CYP19 genes in endometrial cancer patients
Szyllo K, et al.
Pol J Pathol 2006;57(1):35-40

IGF2 polymorphisms are associated with hepatitis B virus clearance and hepatocellular carcinoma
Kim YJ, et al.
Biochem Biophys Res Commun 2006 May

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
Kokko A, et al.
BMC Cancer 2006 Jun;6(1):145

An association between a common variant (G972R) in the IRS-1 gene and sex hormone levels in post-menopausal breast cancer survivors
Fan J, et al.
Breast Cancer Res Treat 2006 Jun

Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: international society for gastrointestinal hereditary tumours collaborative study
Park JG, et al.
Clin Cancer Res 2006 Jun;12(11):3389-93

Variants in the GH-IGF axis confer susceptibilityto lung cancer
Rudd MF, et al.
Genome Res 2006 Jun;16(6):693-701

Genetic polymorphisms of glutathione S-transferase T1 (GSTT1) and susceptibility to gastric cancer: a meta-analysis
Saadat M
Cancer Sci 2006 Jun;97(6):505-9

Polymorphisms in innate immunity genes and risk of non-Hodgkin lymphoma
Forrest MS, et al.
Br J Haematol 2006 Jun

Compliance and Satisfaction with Long-Term Surveillance in Finnish HNPCC Families
Pylvanainen K, et al.
Fam Cancer 2006;5(2):175-8

 

Endocrine, Nutritional and Metabolic Diseases

Genetic analysis of the estrogen-related receptor alpha and studies of association with obesity and type 2 diabetes
Larsen LH, et al.
Int J Obes (Lond) 2006 Jun

A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases
Hu Y, et al.
J Lipid Res 2006 Jun

Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes
Pihlajamaki J, et al.
Diabetologia 2006 Jul;49(7):1560-6

The functional KL-VS variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
Freathy RM, et al.
BMC Med Genet 2006 Jun;7(1):51

LDL composition in E2/2 subjects and LDL distribution by Apo E genotype in type 1 diabetes
Murdoch SJ, et al.
Atherosclerosis 2006 May

Association of IL13 with total IgE: Evidence against an inverse association of atopy and diabetes
Maier LM, et al.
J Allergy Clin Immunol 2006 Jun;117(6):1306-13

 

Mental Disorders

Interaction Between MAO-A Genotype and Maltreatment in the Risk for Conduct Disorder: Failure to Confirm in Adolescent Patients
Young SE, et al.
Am J Psychiatry 2006 Jun;163(6):1019-25

Rgs 2 gene polymorphisms as modulators of anxiety in humans?
Leygraf A, et al.
J Neural Transm 2006 Jun

Association between a functional polymorphism in the renin-angiotensin system and completed suicide
Hishimoto A, et al.
J Neural Transm 2006 Jun

Intronic Variants in the DOPA Decarboxylase (DDC) Gene are Associated with Smoking Behavior in European-Americans and African-Americans
Yu Y, et al.
Hum Mol Genet 2006 Jun

Serotonin transporter polymorphisms and persistent, pervasive childhood aggression
Beitchman JH, et al.
Am J Psychiatry 2006 Jun;163(6):1103-5

The TAQ1 DRD2 A1 allele is associated with alcohol-dependence although its effect size is small
Berggren U, et al.
Alcohol Alcohol 2006 Jun

Association of the dopamine receptor interacting protein gene, NEF3 , with early response to antipsychotic medication
Strous RD, et al.
Int J Neuropsychopharmacol 2006 May:1-13

Association of the low-activity COMT 158 Met allele with ADHD and OCD in subjects with velocardiofacial syndrome
Gothelf D, et al.
Int J Neuropsychopharmacol 2006 May:1-8

Mutation analysis of DARPP-32 as a candidate gene for schizophrenia
Li CH, et al.
Schizophr Res 2006 Jun

Association analyses suggest GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia
Severinsen JE, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

A family-based and case-control association study of SOX10 in schizophrenia
Iwamoto K, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

An examination of the behavioral and neuropsychological correlates of three ADHD candidate gene polymorphisms (DRD4 7+, DBH TaqI A2, and DAT1 40 bp VNTR) in hyperactive and normal children followed to adulthood
Barkley RA, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

Three major haplotypes of the beta(2) adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder
Diatchenko L, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia
Sengupta S, et al.
BMC Genet 2006 Jun;7(1):34

Transmission distortion of BDNF variants to bipolar disorder type I patients from a south american population isolate(,)
Kremeyer B, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

Association analysis of delta-opioid receptor gene polymorphisms in methamphetamine dependence/psychosis
Kobayashi H, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

Lack of influence of COMT and NET genes variants on executive functions in schizophrenic and bipolar patients, their first-degree relatives and controls
Szoke A, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

BDNF gene variants and brain morphology in schizophrenia
Agartz I, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

Contribution of 5-HT2A receptor gene -1438A>G polymorphism to outcome of attention-deficit/hyperactivity disorder in adolescents
Li J, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

           

 

Diseases of the Nervous System and Sense Organs

Association of DRD4 exon III polymorphism with auditory P300 amplitude in 8-year-old children
Vogel CI, et al.
J Neural Transm 2006 Jun

No association between low density lipoprotein receptor genetic variants and Alzheimer's disease risk
Rodriguez E, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
Clark AJ, et al.
Hum Genet 2006 Jul;119(6):604-10

Glucocorticoid receptor polymorphisms and haplotypes associated with chronic fatigue syndrome
Rajeevan MS, et al.
Genes Brain Behav 2006 Jun

Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis
Schmidt S, et al.
Genes Immun 2006 Jun

Apolipoprotein E epsilon 4 is associated with an increased vulnerability to cell death in Alzheimer's disease
Frey C, et al.
J Neural Transm 2006 Jun

VEGF C2578A polymorphism does not contribute to amyotrophic lateral sclerosis susceptibility in sporadic Chinese patients
Zhang Y, et al.
Amyotroph Lateral Scler Other Motor Neuron Disord 2006 Jun;7(2):119-22

Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease
Wollmer MA, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Jun

CACNA1H mutations in autism spectrum disorders
Splawski I, et al.
J Biol Chem 2006 Jun

Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease
Franck T, et al.
J Neural Transm 2006 Jun

Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition
Tuo J, et al.
Proc Natl Acad Sci U S A 2006 Jun

LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample
Goldwurm S, et al.
Parkinsonism Relat Disord 2006 Jun

ABCB1 polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients
Seo T, et al.
Pharmacogenomics 2006 Jun;7(4):551-61

Diseases of the Circulatory System

An Effect of the PAI-1 4G/5G Polymorphism on Cholesterol Levels May Explain Conflicting Associations with Myocardial Infarction and Stroke
Boncoraglio GB, et al.
Cerebrovasc Dis 2006 May;22(2-3):191-5

Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community. The Framingham Heart Study
Morita H, et al.
Circulation 2006 Jun

Increased risk of atherothrombotic events associated with cytochrome P450 3A5 polymorphism in patients taking clopidogrel
Suh JW, et al.
CMAJ 2006 Jun;174(12):1715-22

Haplotypes in the lipoprotein lipase gene influence high-density lipoprotein cholesterol response to statin therapy and progression of atherosclerosis in coronary artery bypass grafts
Goodarzi MO, et al.
Pharmacogenomics J 2006 Jun

Influence of eNOS Gene Polymorphisms (894G/T; - 786C/T) on Postoperative Hemodynamics After Cardiac Surgery
Liakopoulos OJ, et al.
Thorac Cardiovasc Surg 2006 Jun;54(4):233-8

Plasma Adiponectin, T94G Gene Polymorphism and PAI-1 in Patients with and without Hypertension
Jeng JR
Cardiology 2006 May;107(1):30-7

Cytokine Polymorphisms Associated With Carotid Intima-Media Thickness in Stroke Patients
Brenner D, et al.
Stroke 2006 Jun

Dietary sodium restriction and {beta}2-adrenergic receptor polymorphism modulate cardiovascular function in humans
Eisenach JH, et al.
J Physiol 2006 Jun

Low-density lipoprotein receptor-related protein 5 variant Q89R is associated with hypertension in Japanese females
Suwazono Y, et al.
Blood Press 2006;15(2):80-7

Genetic Risk for Ischemic and Hemorrhagic Stroke
Yamada Y, et al.
Arterioscler Thromb Vasc Biol 2006 Jun

Factor XIII Val34Leu Variant Is Protective against Venous Thromboembolism: A HuGE Review and Meta-Analysis
Wells PS, et al.
Am J Epidemiol 2006 Jun

 

Diseases of the Respiratory System

The C523A beta2 Adrenergic Receptor Polymorphism Associates with Markers of Asthma Severity in African Americans
Lima JJ, et al.
J Asthma 2006;43(3):185-91

ADA Polymorphisms and Asthma: A Study in the Chinese Han Population
Liu Y, et al.
J Asthma 2006;43(3):203-6

 

Diseases of the Digestive System

Slc11a1 (formerly Nramp1) polymorphisms and susceptibility to post-transplant lymphoproliferative disease following pediatric liver transplantation
Barshes NR, et al.
Transpl Infect Dis 2006 Jun;8(2):108-12

 

Diseases of the Genitourinary System

Relationship of ENOS and RAS Gene Polymorphisms to Initial Peritoneal Transport Status in Peritoneal Dialysis Patients
Akcay A, et al.
Nephron Clin Pract 2006 May;104(1):c41-c46

 

Complications of Pregnancy, Childbirth, and the Puerperium

Maternal IVS1-401 T allele of the estrogen receptor alpha is an independent predictor of late fetal loss
Gerhardt A, et al.
Fertil Steril 2006 Jun

 

Diseases of the Skin and Subcutaneous Tissue

Relationship of trichloroethylene-induced medicamentosa like dermatitis to HLA-DMA and HLA-DMB
Yue F, et al.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2006 May;24(5):263-5

 

Diseases of the Musculoskeletal System and Connective Tissue

Estrogen receptor alpha and beta polymorphisms: is there an association with bone mineral density, plasma lipids, and response to postmenopausal hormone therapy?
Silvestri S, et al.
Menopause 2006 May

Relationship of osteocalcin and matrix Gla protein gene polymorphisms to serum osteocalcin levels and bone mineral density in postmenopausal Korean women
Kim JG, et al.
Menopause 2006 May

Calcium-sensing Receptor Gene A986S Polymorphism and Bone Mass in Hypertensive Women
Perez-Castrillon JL, et al.
Arch Med Res 2006 Jul;37(5):607-11

Primary Osteoarthritis in the Ankle Joint Is Associated With Finger Metacarpophalangeal Osteoarthritis and the H63D Mutation in the HFE Gene: Evidence for a Hemochromatosis-Like Polyarticular Osteoarthritis Phenotype
Carroll GJ
J Clin Rheumatol 2006 Jun;12(3):109-13

Lack of association between 3 vascular endothelial growth factor gene polymorphisms and systemic sclerosis: results from a multicenter EUSTAR study of European Caucasian patients
Allanore Y, et al.
Ann Rheum Dis 2006 Jun

BMP-2 Gene Polymorphisms and Osteoporosis: The Rotterdam Study
Medici M, et al.
J Bone Miner Res 2006 Jun;21(6):845-54

Lack of Association Between the Aggrecan Gene and Familial Idiopathic Scoliosis
Marosy B, et al.
Spine 2006 Jun;31(13):1420-5

SUMO4 and MAP3K7IP2 Single Nucleotide Polymorphisms and Susceptibility to Rheumatoid Arthritis
Costas J, et al.
J Rheumatol 2006 Jun;33(6):1048-51

 

Congenital Anomalies

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype
Bossler AD, et al.
Hum Mutat 2006 Jun;27(7):667-75

A mutation of the p63 gene in non-syndromic cleft lip
Leoyklang P, et al.
J Med Genet 2006 Jun;43(6):e28

 

Certain Conditions Originating in the Perinatal Period

Angiotensin-converting enzyme DD genotype is preventive against circulatory failure in very-low-birthweight neonates
Nobilis A, et al.
Acta Paediatr 2006 Jun;95(6):747-50

The association of Interferon-Gamma t+874a and Interleukin-12 p40 promoter ctctaa/gc polymorphism with the need for respiratory support and perinatal complications in low birth weight neonates
Bokodi G, et al.
Arch Dis Child Fetal Neonatal Ed 2006 Jun

 

Symptoms, Signs and Ill-defined Conditions

Influence of different allelic variants of the CYP3A and ABCB1 genes on the tacrolimus pharmacokinetic profile of Chinese renal transplant recipients
Cheung CY, et al.
Pharmacogenomics 2006 Jun;7(4):563-74

Effects of organic anion transporting polypeptide 1B1 haplotype on pharmacokinetics of pravastatin, valsartan, and temocapril
Maeda K, et al.
Clin Pharmacol Ther 2006 May;79(5):427-39

 

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