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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 3, 2008
Volume 20, No. 14

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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

High Prevalence of MTHFR Gene A1298C Polymorphism in Lebanon
Sabbagh AS, et al.
Genet Test 2008 Spring;12(1):75-80

Allelic Variation and Haplotype Structure of the Dopamine Receptor Gene DRD2 in Nine Indian Populations
Bhaskar LV, et al.
Genet Test 2008 Spring;12(1):153-60

 

Infectious and Parasitic Diseases

Interleukin-6 (-174C) polymorphism and the risk of sepsis in very-low-birth-weight infants: Meta-analysis
Chauhan M & McGuire W
Arch Dis Child Fetal Neonatal Ed 2008 Mar

The Influence of Host and Bacterial Genotype on the Development of Disseminated Disease with Mycobacterium tuberculosis
Caws M, et al.
PLoS Pathog 2008 Mar;4(3):e1000034

Host genetic factors and vaccine-induced immunity to hepatitis B virus infection
Hennig BJ, et al.
PLoS ONE 2008;3(3):e1898

 

Neoplasms

Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients
Lal S, et al.
Cancer Sci 2008 Apr;99(4):816-23

A Randomized, Double-Blind, Phase IIa Dose-Finding Study of Vandetanib (ZD6474) in Japanese Patients With Non-Small Cell Lung Cancer
Kiura K, et al.
J Thorac Oncol 2008 Apr;3(4):386-93

Evidence for Disease Control with Erlotinib after Gefitinib Failure in Typical Gefitinib-Sensitive Asian Patients with Non-small Cell Lung Cancer
Wong AS, et al.
J Thorac Oncol 2008 Apr;3(4):400-4

Oxidative DNA damage in gastric cancer: CagA status and OGG1 gene polymorphism
Farinati F, et al.
Int J Cancer 2008 Mar

Bladder cancer, GSTs, NAT1, NAT2, SULT1A1, XRCC1, XRCC3, XPD genetic polymorphisms and coffee consumption: a case-control study
Covolo L, et al.
Eur J Epidemiol 2008 Mar

PIK3CA activating mutations and chemotherapy sensitivity in stage II-III breast cancer
Liedtke C, et al.
Breast Cancer Res 2008 Mar;10(2):R27

Modification of the associations between lifestyle, dietary factors and colorectal cancer risk by APC variants
Theodoratou E, et al.
Carcinogenesis 2008 Mar

Analysis of Pro12Ala PPAR gamma polymorphism and Helicobacter pylori infection in gastric adenocarcinoma and peptic ulcer disease
Prasad KN, et al.
Ann Oncol 2008 Mar

Further evidence for null association of phenol sulfotransferase SULT1A1 polymorphism with prostate cancer risk: a case-control study of familial prostate cancer in a Japanese population
Koike H, et al.
Int Urol Nephrol 2008 Mar

Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cachexia
Knoll S, et al.
BMC Cancer 2008 Mar;8(1):85

Mannan-binding Lectin (MBL) Polymorphism and Gastric Cancer Risk in Japanese Population
Wang FY, et al.
Dig Dis Sci 2008 Mar

Polymorphism of genes related to insulin sensitivity and the risk of biliary tract cancer and biliary stone: a population-based case-control study in Shanghai, China
Chang SC, et al.
Carcinogenesis 2008 Mar

Influence of Multiple Genetic Polymorphisms on Genitourinary Morbidity After Carbon Ion Radiotherapy for Prostate Cancer
Suga T, et al.
Int J Radiat Oncol Biol Phys 2008 Mar

Common variants in mismatch repair genes and risk of colorectal cancer
Koessler T, et al.
Gut 2008 Mar

Interleukin-12 p40 gene (IL12B) polymorphisms and the risk of cervical caner in Korean women
Han SS, et al.
Eur J Obstet Gynecol Reprod Biol 2008 Mar

MC1R Variants Increase Risk of Melanomas Harboring BRAF Mutations
Fargnoli MC, et al.
J Invest Dermatol 2008 Mar

Sequence variants of elaC homolog 2 (E. coli) (ELAC2) gene and susceptibility to  prostate cancer in the Health Professionals Follow-Up Study
Chen YC, et al.
Carcinogenesis 2008 Mar
Polymorphisms of genes coding for ghrelin and its receptor in relation to anthropometry, circulating levels of IGF-I and IGFBP-3, and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition
Dossus L, et al.
Carcinogenesis 2008 Mar

Prospective study of NAT1 and NAT2 polymorphisms, tobacco smoking and meat consumption and risk of colorectal cancer
Sorensen M, et al.
Cancer Lett 2008 Mar

Gastric carcinogenesis: Possible role of polymorphisms of GSTM1, GSTT1, and GSTP1 genes
Tripathi S, et al.
Scand J Gastroenterol 2008;43(4):431-9

 

Endocrine, Nutritional and Metabolic Diseases

Variations in the FTO gene are associated with severe obesity in the Japanese
Hotta K, et al.
J Hum Genet 2008 Apr

Apolipoprotein e gene polymorphism and serum lipid levels in the guangxi hei yi zhuang and han populations
Yin R, et al.
Exp Biol Med (Maywood) 2008 Apr;233(4):409-18

Impact of Peroxisome Proliferator-activated Receptors gamma and delta on Adiposity in Toddlers and Preschoolers in the GENESIS Study
Lagou V, et al.
Obesity (Silver Spring) 2008 Apr;16(4):913-8

Thyrotropin Receptor and Thyroid Transcription Factor-1 Genes Variant in Chinese  Children with Congenital Hypothyroidism
Yuan ZF, et al.
Endocr J 2008 Apr

Association of SLC11A1 promoter polymorphisms with the incidence of autoimmune and inflammatory diseases: A meta-analysis
O'Brien BA, et al.
J Autoimmun 2008 Mar

The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects
Grarup N, et al.
J Clin Endocrinol Metab 2008 Mar

Strong association of common variants in the CDKN2A/CDKN2B region with type 2 diabetes in French Europids
Duesing K, et al.
Diabetologia 2008 Mar

Gene-environment Association of an ITGB2 Sequence Variant With Obesity in Ethnic  Japanese
Awaya T, et al.
Obesity (Silver Spring) 2008 Mar

The Effect of Atorvastatin Treatment on Lipid Profile and Adhesion Molecule Levels in Hypercholesterolemic Patients: Relation to Low-Density Lipoprotein Receptor Gene Polymorphism
Bolewski A, et al.
Cardiology 2008 Mar;111(2):140-6

Association of the -243 A-->G polymorphism of the glutamate decarboxylase 2 gene  with obesity in girls with premature pubarche
Witchel SF, et al.
Fertil Steril 2008 Mar

Association of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with type 1 autoimmune hepatitis in Japanese
Umemura T, et al.
Hepatol Res 2008 Mar

Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations
Benzinou M, et al.
Hum Mol Genet 2008 Mar

APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL  cholesterol levels
Klos K, et al.
Hum Mol Genet 2008 Mar

Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: mutation detection, case-control studies, and gene expression analysis
Das SK, et al.
BMC Med Genet 2008 Mar;9(1):16

 

Diseases of the Blood & Blood-Forming Organ Disorders

Novel Exon 12 mutations in the HIF2A gene associated with erythrocytosis
Percy MJ, et al.
Blood 2008 Mar

 

Mental Disorders

Major depression, 5HTTLPR genotype, suicide and antidepressant influences on thalamic volume
Young KA, et al.
Br J Psychiatry 2008 Apr;192:285-9

Preliminary evidence that specific candidate genes are associated with adolescent-onset antisocial behavior
Burt SA & Mikolajewski AJ
Aggress Behav 2008 Mar

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh T, et al.
Science 2008 Mar

The Short Allele of the Serotonin Transporter Promoter Polymorphism Influences Relapse in Alcohol Dependence
Pinto E, et al.
Alcohol Alcohol 2008 Mar

Reduced CAG repeats length in androgen receptor gene is associated with violent criminal behavior
Rajender S, et al.
Int J Legal Med 2008 Mar

 

Diseases of the Nervous System and Sense Organs

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism
Moro E, et al.
Neurology 2008 Apr;70(14):1186-91

Effects of simvastatin on cerebrospinal fluid biomarkers and cognition in middle-aged adults at risk for Alzheimer's disease
Carlsson CM, et al.
J Alzheimers Dis 2008 Apr;13(2):187-97

Prevalence and risk factors of cerebral microbleeds: the Rotterdam Scan Study
Vernooij MW, et al.
Neurology 2008 Apr;70(14):1208-14

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
Mandich P, et al.
J Hum Genet 2008 Apr

Screening for FXTAS in 95 Spanish Patients Negative for Huntington Disease
Rodriguez-Revenga L, et al.
Genet Test 2008 Mar;12(1):135-8

Angiotensin- converting enzyme gene insertion/deletion polymorphism in migraine patients
Tronvik E, et al.
BMC Neurol 2008 Mar;8(1):4

Genetic association study of synphilin-1 in idiopathic Parkinson's disease
Myhre R, et al.
BMC Med Genet 2008 Mar;9(1):19

CTLA-4 and multiple sclerosis: The A49G single nucleotide polymorphism shows no association with multiple sclerosis in a Southern Australian population
Wray BN, et al.
J Neuroimmunol 2008 Mar

Coagulation-balance genetic predictors for efficacy of photodynamic therapy in occult choroidal neovascularization secondary to age-related macular degeneration
Parmeggiani F, et al.
Invest Ophthalmol Vis Sci 2008 Mar

Vascular Endothelial Growth Factor Gene Polymorphisms in Age-related Macular Degeneration
Lin JM, et al.
Am J Ophthalmol 2008 Mar

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7
Thomas S, et al.
Brain 2008 Mar

Genetic variability of histamine receptors in patients with Parkinson's disease
Garcia-Martin E, et al.
BMC Med Genet 2008 Mar;9(1):15

Association of an EAAT2 polymorphism with higher glutamate concentration in relapsing multiple sclerosis
Pampliega O, et al.
J Neuroimmunol 2008 Mar

KIBRA gene variants are associated with episodic memory performance in subjective memory complaints
Nacmias B, et al.
Neurosci Lett 2008 Mar

Acute and long-term associations between ApoE genetic polymorphism, cortisol levels, and declarative memory performance in older adults
Fiocco AJ, et al.
Psychoneuroendocrinology 2008 Mar

Increased Prevalence of Significant Recurrent Headache in Preclinical Familial Alzheimer's Disease Mutation Carriers
Ringman JM, et al.
Dement Geriatr Cogn Disord 2008 Mar;25(4):380-4

 

Diseases of the Circulatory System

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia
Shan L, et al.
Mol Genet Metab 2008 Apr;93(4):468-74

Apolipoprotein E polymorphism and its relation to plasma lipids in coronary heart disease
Singh PP, et al.
Indian J Med Sci 2008 Mar;62(3):105-12

Role of apolipoproteins E and A-I: Epistatic villains of triglyceride mediation in coronary heart disease
Singh P, et al.
Int J Cardiol 2008 Mar

Cardiac Autonomic Dysfunction. Effects From Particulate Air Pollution and Protection by Dietary Methyl Nutrients and Metabolic Polymorphisms
Baccarelli A, et al.
Circulation 2008 Mar

Cardiac Sodium Channel (SCN5A) Variants Associated with Atrial Fibrillation
Darbar D, et al.
Circulation 2008 Mar

Low protein Z levels but not the protein Z gene G79A polymorphism are a risk factor for ischemic stroke
van Goor MP, et al.
Thromb Res 2008 Mar

PTPN22 gene polymorphism in Takayasu's arteritis
Sahin N, et al.
Rheumatology (Oxford) 2008 Mar

Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease
Assimes TL, et al.
Hum Genet 2008 Mar

 

Diseases of the Respiratory System

Association of Four-locus Gene Interaction with Aspirin-intolerant Asthma in Korean Asthmatics
Kim SH, et al.
J Clin Immunol 2008 Apr

Influence of leukotriene gene polymorphisms on chronic rhinosinusitis
Al-Shemari H, et al.
BMC Med Genet 2008 Mar;9(1):21

Lack of associations between several polymorphisms in cytokine genes and the risk of chronic obstructive pulmonary diseases in taiwan
Hsieh MH, et al.
Kaohsiung J Med Sci 2008 Mar;24(3):126-37

Comprehensive evaluation of genetic variation in S100A7 suggests an association with the occurrence of allergic rhinitis
Bryborn M, et al.
Respir Res 2008 Mar;9(1):29

 

Diseases of the Digestive System

Polymorphisms in Cytokine Genes and Their Association with Acute Rejection and Recurrence of Hepatitis B in Chinese Liver Transplant Recipients
Xie HY, et al.
Arch Med Res 2008 May;39(4):420-8

Frequency and clinical correlations of granulomas in children with Crohn disease
De Matos V, et al.
J Pediatr Gastroenterol Nutr 2008 Apr;46(4):392-8

IL23R: a susceptibility locus for celiac disease and multiple sclerosis?
Nunez C, et al.
Genes Immun 2008 Mar

NOD2/CARD15 Gene Variants Are Linked to Failure of Antibiotic Treatment in Perianal Fistulating Crohn's Disease
Angelberger S, et al.
Am J Gastroenterol 2008 Mar

Genetic markers of tumour necrosis factor alpha in aggressive and chronic periodontitis
Schulz S, et al.
J Clin Periodontol 2008 Mar

Incidence of Mycobacterium avium Subspecies paratuberculosis in a Population-Based Cohort of Patients With Crohn's Disease and Control Subjects
Bentley RW, et al.
Am J Gastroenterol 2008 Mar

 

Diseases of the Genitourinary System

Human Leukocyte Antigen DRB1 Alleles Predict Risk and Disease Progression of Immunoglobulin A Nephropathy in Han Chinese
Cao HX, et al.
Am J Nephrol 2008 Mar;28(4):684-91

Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes
Prasad P, et al.
BMC Genet 2008 Mar;9(1):26

Some Single Nucleotide Polymorphisms of MSY2 Gene Might Contribute to Susceptibility to Spermatogenic Impairment in Idiopathic Infertile Men
Deng Y, et al.
Urology 2008 Mar

Shift Work, hCLOCK T3111C Polymorphism, and Endometriosis Risk
Marino JL, et al.
Epidemiology 2008 Mar

Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls
Christensen GL, et al.
Fertil Steril 2008 Mar

 

Complications of Pregnancy, Childbirth, and the Puerperium

Cytokine polymorphisms in women with recurrent pregnancy loss: Meta-analysis
Bombell S & McGuire W
Aust N Z J Obstet Gynaecol 2008 Apr;48(2):147-54

 

Diseases of the Skin and Subcutaneous Tissue

Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5
Vasilopoulos Y, et al.
Eur J Hum Genet 2008 Mar

Fine Mapping of the Psoriasis Susceptibility Locus PSORS1 Supports HLA-C as the Susceptibility Gene in the Han Chinese Population
Fan X, et al.
PLoS Genet 2008 Mar;4(3):e1000038

 

Diseases of the Musculoskeletal System and Connective Tissue

Family-Based Association Study of Polymorphisms in the RUNX2 Locus with Hand Bone Length and Hand BMD
Ermakov S, et al.
Ann Hum Genet 2008 Mar

Quantification of the Genetic Component of Basal C-Reactive Protein Expression in SLE Nuclear Families
Rhodes B, et al.
Ann Hum Genet 2008 Mar

Catalase -262C>T polymorphism in systemic lupus erythematosus in Poland
Warchol T, et al.
Rheumatol Int 2008 Mar

Association of RF and anti-CCP positivity, but not carriage of shared epitope or  PTPN22 susceptibility variants, with anti-TNF response in RA
Potter C, et al.
Ann Rheum Dis 2008 Mar

Time to seizure occurrence and damage in PROFILE, a multi-ethnic systemic lupus erythematosus cohort
Ramsey-Goldman R, et al.
Lupus 2008;17(3):177-84

 

Congenital Anomalies

Genetic polymorphisms of ESR1 and ESR2 that may influence estrogen activity and the risk of hypospadias
Ban S, et al.
Hum Reprod 2008 Mar

 

Symptoms, Signs and Ill-defined Conditions

Apolipoprotein E polymorphism, life stress and self-reported health among older adults
Zhang F, et al.
J Epidemiol Community Health 2008 Apr;62(4):e3

 

Injury and Poisoning

Meta-Analysis of APOE4 Allele and Outcome after Traumatic Brain Injury
Zhou W, et al.
J Neurotrauma 2008 Apr;25(4):279-90

 

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Page last reviewed: April 3, 2008 (archived document)
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