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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
November 30, 2006
Volume 17, No. 21

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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

Allelic distribution of HLA class I genes in the Tibetan ethnic population of China
Chen S, et al.
Int J Immunogenet 2006 Dec;33(6):439-45

Sequencing-based analysis of the HLA-DPB1 polymorphism in Nu ethnic group of south-west China
Hu W, et al.
Int J Immunogenet 2006 Dec;33(6):397-400

Polymorphisms in the thymidylate synthase promoter and the DNA repair genes XRCC1 and XPD in a Brazilian population
Canalle R, et al.
Environ Mol Mutagen 2006 Nov

Human CHIT1 gene distribution: new data from Mediterranean and European populations
Piras I, et al.
J Hum Genet 2006 Nov

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White
Ruiter EM, et al.
Eur J Hum Genet 2006 Nov

Prevalence of UGT1A9 and UGT2B7 nonsynonymous single nucleotide polymorphisms in West African, Papua New Guinean, and North American populations
Mehlotra RK, et al.
Eur J Clin Pharmacol 2006 Nov

 

Infectious and Parasitic Diseases

Fibrinogen-beta gene haplotype is associated with mortality in sepsis
Manocha S, et al.
J Infect 2006 Nov

Polymorphisms of interleukin-1beta in Japanese patients with hepatitis B virus infection
Migita K, et al.
J Hepatol 2006 Nov

Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis
Bucheton B, et al.
Genes Immun 2006 Nov

Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort
Li S, et al.
J Acquir Immune Defic Syndr 2006 Nov

           

 

Neoplasms

Alterations in the ATP2A2 gene in correlation with colon and lung cancer
Korosec B, et al.
Cancer Genet Cytogenet 2006 Dec;171(2):105-11

Case-control study in basal cell carcinoma of the skin: single nucleotide polymorphisms in three interleukin promoters pre-analysed in pooled DNA
Wilkening S, et al.
Br J Dermatol 2006 Dec;155(6):1139-44

DRD2 genetic variation in relation to smoking and obesity in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial
Morton LM, et al.
Pharmacogenet Genomics 2006 Dec;16(12):901-10

Dietary Folate and APC Mutations in Sporadic Colorectal Cancer
de Vogel S, et al.
J Nutr 2006 Dec;136(12):3015-21

Interactions between GSTM1, GSTT1 and GSTP1 polymorphisms and smoking and intake of fruit and vegetables in relation to lung cancer
Sorensen M, et al.
Lung Cancer 2006 Nov

Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients
Talseth BA, et al.
Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2307-10

Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma
Lievre A, et al.
BMC Cancer 2006 Nov;6(1):270

Effect of Mammography on Breast Cancer Risk in Women with Mutations in BRCA1 or BRCA2
Goldfrank D, et al.
Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2311-3

Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma
Lima CS, et al.
Int J Colorectal Dis 2006 Nov

Variants in Estrogen Biosynthesis Genes, Sex Steroid Hormone Levels, and Endometrial Cancer: A HuGE Review
Olson SH, et al.
Am J Epidemiol 2006 Nov

Large genomic BRCA2 rearrangements and male breast cancer
Karhu R, et al.
Cancer Detect Prev 2006 Nov

Glutathione s-transferase polymorphisms and the synergy of alcohol and tobacco in oral, pharyngeal, and laryngeal carcinoma
Peters ES, et al.
Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2196-202

Evidence for an association of TP53 codon 72 polymorphism with breast cancer risk
Damin AP, et al.
Cancer Detect Prev 2006 Nov

Dietary intake of B-vitamins, polymorphisms in thymidylate synthase and serine hydroxymethyltransferase 1, and colorectal adenoma risk: A Dutch case-control study
van den Donk M, et al.
Cancer Lett 2006 Nov

HFE gene mutations in patients with acute leukemia
Viola A, et al.
Leuk Lymphoma 2006 Nov;47(11):2331-4

Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study
Burwinkel B, et al.
BMC Cancer 2006 Nov;6(1):268

HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer
Benusiglio PR, et al.
Br J Cancer 2006 Nov

DNA Repair and Cell Cycle Control Genes and the Risk of Young-Onset Lung Cancer
Landi S, et al.
Cancer Res 2006 Nov;66(22):11062-9

Polymorphisms of vitamin d receptor and survival in early-stage non-small cell lung cancer patients
Zhou W, et al.
Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2239-45

Germ-Line Genetic Variation in the Key Androgen-Regulating Genes Androgen Receptor, Cytochrome P450, and Steroid-5-{alpha}-Reductase Type 2 Is Important for Prostate Cancer Development
Lindstrom S, et al.
Cancer Res 2006 Nov;66(22):11077-83

APC E1317Q Is Not Associated with Colorectal Cancer in a Population-Based Case-Control Study in Northern Israel
Rozek LS, et al.
Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2325-7

Meta-analyses of Observational and Genetic Association Studies of Folate Intakes or Levels and Breast Cancer Risk
Lewis SJ, et al.
J Natl Cancer Inst 2006 Nov;98(22):1607-22

Breast cancer risk associated with AURKA 91T-->A polymorphism in relation to BRCA mutations
Vidarsdottir L, et al.
Cancer Lett 2006 Nov

Vascular endothelial growth factor polymorphisms in gastric cancer development, prognosis, and survival
Tzanakis N, et al.
J Surg Oncol 2006 Nov;94(7):624-30

KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland
Seppala EH, et al.
Eur Urol 2006 Nov

Adenosine triphosphate-binding cassette B1 (ABCB1) (multidrug resistance 1) G2677T/A gene polymorphism is associated with high risk of lung cancer
Gervasini G, et al.
Cancer 2006 Nov

C-reactive protein levels, variation in the C-reactive protein gene, and cancer risk: the rotterdam study
Siemes C, et al.
J Clin Oncol 2006 Nov;24(33):5216-22

Association between a functional single nucleotide polymorphism in the MDM2 gene and sporadic endometrial cancer risk
Walsh CS, et al.
Gynecol Oncol 2006 Nov

Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk
Berndt SI, et al.
Cancer Epidemiol Biomarkers Prev 2006 Nov;15(11):2263-9

IL-2 gene C/T polymorphism is associated with prostate cancer
Wu HC, et al.
J Clin Lab Anal 2006;20(6):245-9

 

Endocrine, Nutritional and Metabolic Diseases

Polymorphisms of the Bcl-2 family member bfl-1 in children with atopic dermatitis
Gray A, et al.
Pediatr Allergy Immunol 2006 Dec;17(8):578-82

Influence of SNPs in cytokine-related genes on the severity of food allergy and atopic eczema in children
Negoro T, et al.
Pediatr Allergy Immunol 2006 Dec;17(8):583-90

Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity
Dahlman I, et al.
Pharmacogenet Genomics 2006 Dec;16(12):881-9

LEPR, ADBR3, IRS-1 and 5-HTT Genes Polymorphisms do not Associate with Obesity
Mergen H, et al.
Endocr J 2006 Nov

Association between plasma IL-6, the IL6 -174G>C gene variant and the metabolic syndrome in type 2 diabetes mellitus
Stephens JW, et al.
Mol Genet Metab 2006 Nov

Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Features of Metabolic Syndrome
Gonzalez-Sanchez JL, et al.
Clin Chem 2006 Nov

Significant association of FcvarepsilonRIalpha promoter polymorphisms with aspirin-intolerant chronic urticaria
Bae JS, et al.
J Allergy Clin Immunol 2006 Nov

Norepinephrine Transporter Gene (NET) Polymorphism in Patients with Type 2 Diabetes
Ksiazek P, et al.
Kidney Blood Press Res 2006 Nov;29(6):338-43

Proinflammatory cytokine gene polymorphisms among Hashimoto's thyroiditis patients
Chen RH, et al.
J Clin Lab Anal 2006;20(6):260-5

 

Mental Disorders

Methylenetetrahydrofolate Reductase C677T-Polymorphism and Its Association With Alcohol Withdrawal Seizure
Lutz UC, et al.
Alcohol Clin Exp Res 2006 Dec;30(12):1966-71

Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia
Malison RT, et al.
Psychiatr Genet 2006 Dec;16(6):245-9

Lack of association of an insertion/deletion polymorphism in the G protein-coupled receptor 50 with bipolar disorder in a Northern Swedish population
Alaerts M, et al.
Psychiatr Genet 2006 Dec;16(6):235-6

No association between genetic variants at the ASCT1 gene and schizophrenia or bipolar disorder in a German sample
Skowronek MH, et al.
Psychiatr Genet 2006 Dec;16(6):233-4

Obsessive-compulsive alcohol craving is not associated with Apolipoprotein E genotype
Hillemacher T, et al.
Psychiatr Genet 2006 Dec;16(6):231-2

Bipolar 1 disorder is not associated with the RGS4, PRODH, COMT and GRK3 genes
Prata DP, et al.
Psychiatr Genet 2006 Dec;16(6):229-30

The relationship between the therapeutic response to risperidone and the dopamine D2 receptor polymorphism in Chinese schizophrenia patients
Xing Q, et al.
Int J Neuropsychopharmacol 2006 Nov:1-7

Positive association between SIAT8B and schizophrenia in the Chinese Han population
Tao R, et al.
Schizophr Res 2006 Nov

CLOCK gene T3111C polymorphism is associated with Japanese schizophrenics: A preliminary study
Takao T, et al.
Eur Neuropsychopharmacol 2006 Nov

No association between the TPH A218C polymorphism and personality traits in Japanese healthy subjects
Suzuki A, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Nov           

 

Diseases of the Nervous System and Sense Organs

LRRK2 mutations in a clinic-based cohort of Parkinson's disease
Scholz S, et al.
Eur J Neurol 2006 Dec;13(12):1298-301

Testing of variants of the MTHFR and ESR1 genes in 1798 Finnish individuals fails to confirm the association with migraine with aura
Kaunisto M, et al.
Cephalalgia 2006 Dec;26(12):1462-72

Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis
Cereda C, et al.
Amyotroph Lateral Scler 2006 Dec;7(4):233-40

SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma
Funayama T, et al.
Invest Ophthalmol Vis Sci 2006 Dec;47(12):5368-75

Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population
Tajouri L, et al.
J Neurol Sci 2006 Nov

Apolipoprotein E epsilon4 Allele Frequency and Age at Onset of Alzheimer's Disease
Davidson Y, et al.
Dement Geriatr Cogn Disord 2006 Nov;23(1):60-6

Outcome of Traumatic Brain Injury after Three Decades- Relationship to ApoE Genotype
Isoniemi H, et al.
J Neurotrauma 2006 Nov;23(11):1600-8

Association of the VEGF gene polymorphism with diabetic retinopathy in type 2 diabetes patients
Buraczynska M, et al.
Nephrol Dial Transplant 2006 Nov

Association of APOE with Parkinson disease age-at-onset in women
Buchanan DD, et al.
Neurosci Lett 2006 Nov

Endothelial Nitric Oxide Synthase (Glu298Asp) Polymorphism is an Independent Risk Factor for Migraine with Aura
Borroni B, et al.
Headache 2006 Nov;46(10):1575-9

The controversial association of ABCB1 polymorphisms in refractory epilepsy: An analysis of multiple SNPs in an Irish population
Shahwan A, et al.
Epilepsy Res 2006 Nov

No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort
Szvetko AL, et al.
J Neurol Sci 2006 Nov

Promoter polymorphisms which modulate APP expression may increase susceptibility to Alzheimer's disease
Lv H, et al.
Neurobiol Aging 2006 Nov

High anxiety and migraine are associated with the s allele of the 5HTTLPR gene polymorphism
Gonda X, et al.
Psychiatry Res 2006 Nov

VEGF Gene and Phenotype Relation with Alzheimer's Disease and Mild Cognitive Impairment
Chiappelli M, et al.
Rejuvenation Res 2006 Winter;9(4):485-93

 

Diseases of the Circulatory System

Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C
Sazci A, et al.
Brain Res Bull 2006 Dec;71(1-3):45-50

NOS3 polymorphisms, cigarette smoking, and cardiovascular disease risk: The Atherosclerosis Risk in Communities study
Lee CR, et al.
Pharmacogenet Genomics 2006 Dec;16(12):891-9

Lack of association between gene sequence variations of platelet membrane receptors and aspirin responsiveness detected by the PFA-100 system in patients with coronary artery disease
Bernardo E, et al.
Platelets 2006 Dec;17(8):586-90

Prevalence of Factor V 1691 G-A (Leiden) and prothrombin G20210A polymorphisms and the risk of venous thrombosis among cancer patients
Eroglu A, et al.
J Thromb Thrombolysis 2006 Nov

Effect of genetic variations in platelet glycoproteins Ib{alpha} and VI on the risk for coronary heart disease in postmenopausal women taking hormone therapy
Bray PF, et al.
Blood 2006 Nov

Using endothelial nitric oxide synthase gene polymorphisms to identify intracranial aneurysms more prone to rupture in Japanese patients
Krischek B, et al.
J Neurosurg 2006 Nov;105(5):717-22

AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults
Sampaio MF, et al.
Clin Chim Acta 2006 Nov

ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk: a study of 180 homozygotes for the Factor V Leiden mutation
Biron-Andreani C & Morange P
Br J Haematol 2006 Nov;135(5):697-702

MHC class II genes in Mexican patients with idiopathic dilated cardiomyopathy
Rodriguez-Perez JM, et al.
Exp Mol Pathol 2006 Nov

Promoter Polymorphisms in the Plasma Glutathione Peroxidase (GPx-3) Gene. A Novel Risk Factor for Arterial Ischemic Stroke Among Young Adults and Children
Voetsch B, et al.
Stroke 2006 Nov

Synergistic effect of cytochrome P450 epoxygenase CYP2J2*7 polymorphism with smoking on the onset of premature myocardial infarction
Liu PY, et al.
Atherosclerosis 2006 Nov

Renin-angiotensin system gene polymorphisms and coronary artery disease in a large angiographic cohort: Detection of high order gene-gene interaction
Tsai CT, et al.
Atherosclerosis 2006 Nov

 

Diseases of the Respiratory System

Absence of association between two insertion/deletion coding genetic polymorphisms of TIM-1 gene and asthma in Chinese Han population
Li JS, et al.
Int J Immunogenet 2006 Dec;33(6):417-22

ACE I/D but not AGT (-6)A/G polymorphism is a risk factor for mortality in ARDS
Adamzik M, et al.
Eur Respir J 2006 Nov

Single nucleotide polymorphisms of tumor necrosis factor-alpha and the susceptibility to bronchopulmonary dysplasia
Strassberg SS, et al.
Pediatr Pulmonol 2006 Nov

IL-1R antagonist gene and prenatal smoke exposure are associated with childhood asthma
Ramadas RA, et al.
Eur Respir J 2006 Nov

 

Diseases of the Digestive System

Clinical significance of HLA DRB103-DRB104 in type 1 autoimmune hepatitis
Montano-Loza AJ, et al.
Liver Int 2006 Dec;26(10):1201-8

Polymorphism in IgG Fc receptor gene FCGR3A and response to infliximab in Crohn's disease: a subanalysis of the ACCENT I study
Louis EJ, et al.
Pharmacogenet Genomics 2006 Dec;16(12):911-4

Predictive Value of the CARD15 Variant 1007fs for the Diagnosis of Intestinal Stenoses and the Need for Surgery in Crohn's Disease in Clinical Practice: Results of a Prospective Study
Seiderer J, et al.
Inflamm Bowel Dis 2006 Dec;12(12):1114-21

Polymorphism in the IL-8 Gene, but Not in the TLR4 Gene, Increases the Severity of Acute Pancreatitis
Hofner P, et al.
Pancreatology 2006 Nov;6(6):542-8

A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease: data from Turkey
Yilmaz S, et al.
J Thromb Thrombolysis 2006 Nov

Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the susceptibility to autoimmune pancreatitis
Ota M, et al.
Immunogenetics 2006 Nov

 

Diseases of the Genitourinary System

HLA-DRB1* alleles in Egyptian children with post-streptococcal acute glomerulonephritis
Bakr A, et al.
Pediatr Nephrol 2006 Nov

Association of Angiotensin I-Converting Enzyme Gene Insertion/Deletion Polymorphism and IgA Nephropathy: A Meta-Analysis
Yong D, et al.
Am J Nephrol 2006 Nov;26(5):511-8

Calpain-10 Variants and Haplotypes are Associated with Polycystic Ovary Syndrome in Caucasians
Vollmert C, et al.
Am J Physiol Endocrinol Metab 2006 Nov

 

Complications of Pregnancy, Childbirth, and the Puerperium

Genetic polymorphisms in vasoactive genes and preeclampsia: A meta-analysis
Medica I, et al.
Eur J Obstet Gynecol Reprod Biol 2006 Nov

Placental Abruption Is More Frequent in Women with the Angiotensinogen Thr235 Mutation
Zhang XQ, et al.
Placenta 2006 Nov

 

Diseases of the Skin and Subcutaneous Tissue

Upregulating promoter polymorphisms of RANTES relate to atopic dermatitis
Tanaka K, et al.
Int J Immunogenet 2006 Dec;33(6):423-8

Association screen for atopic dermatitis candidate gene regions using microsatellite markers in pooled DNA samples
Hoffjan S, et al.
Int J Immunogenet 2006 Dec;33(6):401-9

Investigation of the functional variant c.-169T > C of the Fc receptor-like 3 (FCRL3) gene in alopecia areata
Schafer N, et al.
Int J Immunogenet 2006 Dec;33(6):393-5

Association of beta-Defensin 1 Single Nucleotide Polymorphisms with Atopic Dermatitis
Prado-Montes de Oca E, et al.
Int Arch Allergy Immunol 2006 Nov;142(3):211-8

HLA-DR association with the genetic susceptibility to develop ashy dermatosis in Mexican Mestizo patients
Correa MC, et al.
J Am Acad Dermatol 2006 Nov

 

Diseases of the Musculoskeletal System and Connective Tissue

MTHFR Polymorphism and Bone Mineral Density: Meta-Analysis of Published Studies
Riancho JA, et al.
Calcif Tissue Int 2006 Nov

Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women
Koh JM, et al.
Osteoporos Int 2006 Nov

Study of a functional polymorphism in the p53 gene in systemic lupus erythematosus: lack of replication in a Spanish population
Sanchez E, et al.
Lupus 2006;15(10):658-61

Lack of association of interleukin-6 and interleukin-8 gene polymorphisms in Chinese patients with systemic lupus erythematosus
Huang CM, et al.
J Clin Lab Anal 2006;20(6):255-9

 

 

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