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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 28, 2008
Volume 20, No. 9

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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

HD Phenocopies - Possible Role of Saitohin Gene
Jankovic N, et al.
Int J Neurosci 2008 Mar;118(3):391-7

Analysis of beta globin mutations in the Indian population: presence of rare and  novel mutations and region-wise heterogeneity
Edison ES, et al.
Clin Genet 2008 Feb

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
Kitiratschky VB, et al.
Eur J Hum Genet 2008 Feb

Distribution of HLA alleles and haplotypes in Jinuo and Wa populations in Southwest China
Shi L, et al.
Hum Immunol 2008 Jan;69(1):58-65

 

Infectious and Parasitic Diseases

Significant Association Between TIM1 Promoter Polymorphisms and Protection Against Cerebral Malaria in Thailand
Nuchnoi P, et al.
Ann Hum Genet 2008 Feb

Interaction of NK inhibitory receptor genes with HLA-C and MHC class II alleles in Hepatitis C virus infection outcome
Romero V, et al.
Mol Immunol 2008 Feb

CYP3A5 Genotype Has No Impact on Plasma Trough Concentrations of Lopinavir and Ritonavir in HIV-infected Subjects
Estrela R, et al.
Clin Pharmacol Ther 2008 Feb

 

Neoplasms

Association of cytochrome P450, glutathione S-transferase and N-acetyl transferase 2 gene polymorphisms with incidence of acute myeloid leukemia
Majumdar S, et al.
Eur J Cancer Prev 2008 Apr;17(2):125-32

The role of IGFBP3 functional polymorphisms in the risk of gastric cancer in a high-risk Chinese population
Chen W, et al.
Eur J Cancer Prev 2008 Apr;17(2):82-7

Association of CYP1A1 Msp1 polymorphism with tobacco-related risk of gallbladder  cancer in a north Indian population
Pandey SN, et al.
Eur J Cancer Prev 2008 Apr;17(2):77-81

Genetic polymorphisms in mediators of inflammation and gastric precancerous lesions
Canzian F, et al.
Eur J Cancer Prev 2008 Apr;17(2):178-83

Prognostic impact of p53 Pro72 homozygous genotype in non-small cell lung cancer  patients
Boldrini L, et al.
Oncol Rep 2008 Mar;19(3):771-3

Disease family history and modification of breast cancer risk in common BRCA2 variants
Seymour IJ, et al.
Oncol Rep 2008 Mar;19(3):783-6

Impact of CYP2D6*10 on recurrence-free survival in breast cancer patients receiving adjuvant tamoxifen therapy
Kiyotani K, et al.
Cancer Sci 2008 Feb

Lung Cancer Risk Associated with Thr495Pro Polymorphism of GHR in Chinese Population
Cao G, et al.
Jpn J Clin Oncol 2008 Feb

Vascular endothelial growth factor 936 C/T polymorphism is associated with vascular invasion in oral squamous cell carcinoma
Cheng CY, et al.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Feb

Polymorphisms of Genes in the Lipid Metabolism Pathway and Risk of Biliary Tract  Cancers and Stones: A Population-Based Case-Control Study in Shanghai, China
Andreotti G, et al.
Cancer Epidemiol Biomarkers Prev 2008 Feb

Iron intake, oxidative stress-related genes (MnSOD and MPO), and prostate cancer  risk in CARET cohort
Choi JY, et al.
Carcinogenesis 2008 Feb

Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients
Lee E, et al.
Breast Cancer Res 2008 Feb;10(1):R19


K-ras mutations in sinonasal cancers in relation to wood dust exposure
Bornholdt J, et al.
BMC Cancer 2008 Feb;8(1):53

A functional TNFRSF5 gene variant is associated with risk of lymphoma
Skibola CF, et al.
Blood 2008 Feb

Tumor necrosis factor-alpha polymorphisms in ulcerative colitis-associated colorectal cancer
Garrity-Park MM, et al.
Am J Gastroenterol 2008 Feb;103(2):407-15

Polymorphisms in the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 and the risk of human adenomyosis
Kang S, et al.
Environ Mol Mutagen 2008 Feb

Polymorphisms in ASE-1, RAI and ERCC1 and the effects of tobacco smoking and alcohol consumption on risk of colorectal cancer: a Danish prospective case-cohort study
Hansen RD, et al.
BMC Cancer 2008 Feb;8(1):54

XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis
Francisco G, et al.
Eur J Hum Genet 2008 Feb

Pathological Aggressiveness of Prostatic Carcinomas Related to RNASEL R462Q Allelic Variants
Larson BT, et al.
J Urol 2008 Feb

Association of IL-1B Gene Polymorphisms with Nasopharyngeal Carcinoma in a Chinese Population
Zhu Y, et al.
Clin Oncol (R Coll Radiol) 2008 Feb

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba
Rodriguez RC, et al.
Fam Cancer 2008 Feb

Protective Role of CYP1A1*2A in the Development of Multiple Myeloma
Kang SH, et al.
Acta Haematol 2008 Feb;119(1):60-4

Association of the variable number of tandem repeats polymorphism in the promoter region of the SMYD3 gene with risk of esophageal squamous cell carcinoma in relation to tobacco smoking
Wang H, et al.
Cancer Sci 2008 Feb

A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group
French D, et al.
Blood 2008 Feb

 

Endocrine, Nutritional and Metabolic Diseases

Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol
Kolz M, et al.
BMC Med Genet 2008 Feb;9(1):9

Food reinforcement, the dopamine D-sub-2 receptor genotype, and energy intake in  obese and nonobese humans: Erratum
Epstein LH, et al.
Behav Neurosci 2008 Feb;122(1):250

Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population
Rees SD, et al.
BMC Med Genet 2008 Feb;9(1):8

The cDNA 385C to A missense polymorphism of the endocannabinoid degrading enzyme  fatty acid amide hydrolase (FAAH) is associated with overweight/obesity but not with binge eating disorder in overweight/obese women
Monteleone P, et al.
Psychoneuroendocrinology 2008 Feb

The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms
Bruce S, et al.
J Med Genet 2008 Feb

Association of CTLA-4, IL-13 Gene polymorphism with Graves' disease and ophthalmopathy in Chinese children
Chong KK, et al.
Invest Ophthalmol Vis Sci 2008 Feb

SNP rs7754840 of CDKAL1 is associated with impaired insulin secretion in non-diabetic offspring of Type 2 diabetic subjects (the EUGENE2 study) and in a large sample of men with normal glucose tolerance
Stancakova A, et al.
J Clin Endocrinol Metab 2008 Feb

Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes
Bjornvold M, et al.
Diabetologia 2008 Feb

 

Mental Disorders

An association study of tachykinin receptor 3 gene with schizophrenia in the Japanese population
Saito S, et al.
Neuroreport 2008 Mar;19(4):471-3

Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping
Zaharieva I, et al.
BMC Psychiatry 2008 Feb;8(1):11

Unipolar depression and hippocampal volume: Impact of DNA sequence variants of the glucocorticoid receptor gene
Zobel A, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

The Ser9Gly polymorphism of the dopamine D3 receptor gene and risk of schizophrenia: An association study and a large meta-analysis
Ma G, et al.
Schizophr Res 2008 Feb

The neuregulin 1 promoter polymorphism rs6994992 is not associated with chronic schizophrenia or neurocognition
Crowley JJ, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

Association study of brain-derived neurotrophic factor (BDNF) and LIN-7 homolog (LIN-7) genes with adult attention-deficit/hyperactivity disorder
Lanktree M, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

Association analysis of heat shock protein 70 gene polymorphisms in schizophrenia
Kim JJ, et al.
Eur Arch Psychiatry Clin Neurosci 2008 Feb

Reduced hippocampal volumes associated with the long variant of the tri- and diallelic serotonin transporter polymorphism in major depression
Frodl T, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

 

Diseases of the Nervous System and Sense Organs

Gene-gene interaction between 14-3-3 zeta and butyrylcholinesterase modulates Alzheimer's disease risk
Mateo I, et al.
Eur J Neurol 2008 Mar;15(3):219-22

Lack of association between apolipoprotein e polymorphism and vascular dementia in koreans
Ki Woong Kim, et al.
J Geriatr Psychiatry Neurol 2008 Mar;21(1):12-7

Interferon Regulatory Factor 5 (IRF5) Gene Variants are Associated with Multiple  Sclerosis in Three Distinct Populations
Kristjansdottir G, et al.
J Med Genet 2008 Feb

Vascular factors and risk for neuropsychiatric symptoms in Alzheimer's disease: the Cache County Study
Treiber KA, et al.
Int Psychogeriatr 2008 Feb:1-16

IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk
Martinez A, et al.
Eur J Hum Genet 2008 Feb

Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy
Brantley MA Jr, et al.
Eye 2008 Feb

Autism and serotonin transporter gene polymorphisms: A systematic review and meta-analysis
Huang CH & Santangelo SL
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

Inflammation-related genes and the risk of Parkinson's disease: a multilocus approach
Infante J, et al.
Eur J Neurol 2008 Feb

Aromatase and interleukin-10 genetic variants interactively modulate Alzheimer's  disease risk
Combarros O, et al.
J Neural Transm 2008 Feb

Glutathione S-transferase variants increase susceptibility for late-onset Alzheimer's disease: association study and relationship with apolipoprotein E varepsilon4 allele
Pinhel MA, et al.
Clin Chem Lab Med 2008 Feb

Mitochondrial DNA polymorphisms and haplogroups in Parkinson's disease and control individuals with a similar genetic background
Latsoudis H, et al.
J Hum Genet 2008 Feb

 

Diseases of the Circulatory System

Synergistic effects of the apolipoprotein E varepsilon3/varepsilon2/varepsilon4,  the cholesteryl ester transfer protein TaqIB, and the apolipoprotein C3 -482 C>T  polymorphisms on their association with coronary artery disease
Muendlein A, et al.
Atherosclerosis 2008 Feb

Interleukin-1beta (-511) gene polymorphism is associated with acute coronary syndrome in the Turkish population
Soylu O, et al.
Eur Cytokine Netw 2008 Feb;19(1):47-53

Xylosyltransferase I variants and their impact on abdominal aortic aneurysms
Gotting C, et al.
Clin Chim Acta 2008 Feb

Association of beta (1)-adrenergic receptor gene polymorphisms with left ventricular hypertrophy in human essential hypertension
Fu C, et al.
Clin Biochem 2008 Feb

Association of the Complement Factor H Y402H Polymorphism With Cardiovascular Disease Is Dependent Upon Hypertension Status: The ARIC Study
Volcik KA, et al.
Am J Hypertens 2008 Feb

Polymorphisms in coagulation factors and the risk of recurrent cardiovascular events in men after a first myocardial infarction
van der Krabben MD, et al.
J Thromb Haemost 2008 Feb

Apolipoprotein E polymorphisms in Mexican patients with coronary artery disease
Gamboa R, et al.
Clin Chem Lab Med 2008 Feb

Association of endothelial nitric oxide synthase promoter region (T-786C) gene polymorphism with acute coronary syndrome and coronary heart disease
Ciftci C, et al.
Lipids Health Dis 2008 Feb;7(1):5

The D allele of angiotensin I-converting enzyme gene insertion/deletion polymorphism is associated with the severity of atherosclerosis
Niemiec P, et al.
Clin Chem Lab Med 2008 Feb

Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease
Wiltshire S, et al.
Hum Genet 2008 Feb

The association of insulin-like-growth factor 1 (IGF-1) with incident coronary heart disease in women: Findings from the prospective British Women's Heart and Health Study
Lawlor DA, et al.
Atherosclerosis 2008 Feb

Association of Methylenetetrahydrofolate Reductase (MTHFR-677 and MTHFR-1298) Genetic Polymorphisms with Occlusive Artery Disease and Deep Venous Thrombosis in Macedonians
Spiroski I, et al.
Croat Med J 2008 Feb;49(1):39-49

 

Diseases of the Respiratory System

A polymorphism in the NPPA gene associates with asthma
Lima JJ, et al.
Clin Exp Allergy 2008 Feb

IL-10 gene polymorphism at -1082 A/G is associated with severe rhinovirus bronchiolitis in infants
Helminen M, et al.
Pediatr Pulmonol 2008 Feb

 

Diseases of the Digestive System

COL1A2 gene polymorphisms (Pvu II and Rsa I), serum calciotropic hormone levels,  and dental fluorosis
Huang H, et al.
Community Dent Oral Epidemiol 2008 Feb

Risk of lymphoid follicle development in patients with chronic antral gastritis:  role of endoscopic features, histopathological parameters, CagA status and interleukin-1 gene polymorphisms
Achyut BR, et al.
Inflamm Res 2008 Feb;57(2):51-6

TLR and MBL Gene Polymorphisms in Severe Acute Pancreatitis
Zhang D, et al.
Mol Diagn Ther 2008;12(1):45-50

 

Diseases of the Genitourinary System

Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk
Zhao ZZ, et al.
Hum Reprod 2008 Feb

 

Complications of Pregnancy, Childbirth, and the Puerperium

Associations between tumor necrosis factor-{alpha} and lymphotoxin-{alpha} polymorphisms and idiopathic recurrent miscarriage
Zammiti W, et al.
Reproduction 2008 Mar;135(3):397-403

Vascular Endothelial Growth Factor Gene Polymorphisms and Recurrent Pregnancy Loss
Coulam CB & Jeyendran RS
Am J Reprod Immunol 2008 Feb

Endothelial nitric oxide synthase gene polymorphisms in recurrent spontaneous abortions
Karvela M, et al.
Arch Gynecol Obstet 2008 Feb

 

Diseases of the Skin and Subcutaneous Tissue

A Protective Effect of Glutathione-S-Transferase GSTP1(*)Val(105) against Polymorphic Light Eruption
Millard TP, et al.
J Invest Dermatol 2008 Feb

 

Diseases of the Musculoskeletal System and Connective Tissue

Rickets in the Middle East: role of environment and genetic predisposition
Baroncelli GI, et al.
J Clin Endocrinol Metab 2008 Feb

Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese
Furuichi T, et al.
J Hum Genet 2008 Feb

Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans
Kelly JA, et al.
Genes Immun 2008 Feb

A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility
Chapman K, et al.
Hum Mol Genet 2008 Feb

Polymorphisms of KIRs Gene and HLA-C Alleles in Patients with Ankylosing Spondylitis: Possible Association with Susceptibility to the Disease
Jiao YL, et al.
J Clin Immunol 2008 Feb

Meta-analysis of HLA-DRB1 and HLA-DQB1 polymorphisms in Latin American patients with systemic lupus erythematosus
Castano-Rodriguez N, et al.
Autoimmun Rev 2008 Feb;7(4):322-30

 

Injury and Poisoning

HPRT Mutations in Lymphocytes from 1,3-Butadiene-Exposed Workers in China
Liu S, et al.
Environ Health Perspect 2008 Feb;116(2):203-8

 

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Page last reviewed: February 28, 2008 (archived document)
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