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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 26, 2007
Volume 18, No. 17

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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

Diversity of HLA-DQA1 gene in the Korean population
Lee KW, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:82-4

Population Stratification of a Common APOBEC Gene Deletion Polymorphism
Kidd JM, et al.
PLoS Genet 2007 Apr;3(4):e63

HLA-E polymorphism in Amerindians from Mexico (Mazatecans), Colombia (Wayu) and Chile (Mapuches): evolution of MHC-E gene
Arnaiz-Villena A, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:132-5

Sequence-based typing of HLA-DQA1: comprehensive approach showed molecular heterogeneity
Voorter CE, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:76-81

 

Infectious and Parasitic Diseases

Relationship between Toll-like receptor 2 polymorphism and cytomegalovirus disease after liver transplantation
Kijpittayarit S, et al.
Clin Infect Dis 2007 May;44(10):1315-20

Common human Toll-like receptor 4 polymorphisms-Role in susceptibility to respiratory syncytial virus infection and functional immunological relevance
Paulus SC, et al.
Clin Immunol 2007 Apr

Association between haemoglobin variants S and C and Mycobacterium ulcerans disease (Buruli ulcer): a case-control study in Benin
Nackers F, et al.
Trop Med Int Health 2007 Apr;12(4):511-8

Association of variants in the IL12B gene with leprosy and tuberculosis
Morahan G, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:234-6

 

Neoplasms

Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer
Talseth BA, et al.
Scand J Gastroenterol 2007 May;42(5):628-32

Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan: Comprehensive analysis of 207 polymorphisms of 11 cytokine genes
Seno H, et al.
J Gastroenterol Hepatol 2007 May;22(5):729-37

Gene - gene interactions in the folate metabolic pathway influence the risk for acute lymphoblastic leukemia in children
Petra BG, et al.
Leuk Lymphoma 2007 Apr;48(4):786-92

Helicobacter pylori infection, interleukin-1 gene polymorphisms and the risk of colorectal cancer: Evidence from a case-control study in Germany
Zumkeller N, et al.
Eur J Cancer 2007 Apr

Genetic variation in TP53 and risk of breast cancer in a population-based case-control study
Sprague BL, et al.
Carcinogenesis 2007 Apr

Estrogen receptor alpha polymorphisms and postmenopausal breast cancer risk
Gonzalez-Zuloeta Ladd AM, et al.
Breast Cancer Res Treat 2007 Apr

A variant in the cytochrome p450 oxidoreductase gene is associated with breast cancer risk in african americans
Haiman CA, et al.
Cancer Res 2007 Apr;67(8):3565-8

Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer
Loughrey MB, et al.
Fam Cancer 2007 Apr

Matrix metalloproteinase-1 promoter polymorphism and epithelial ovarian cancer: Does ethnicity matter?
Ju W, et al.
J Obstet Gynaecol Res 2007 Apr;33(2):155-60

Mutations and polymorphisms of the p21B transcript in breast cancer
Knappskog S, et al.
Int J Cancer 2007 Apr

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients
Konstantopoulou I, et al.
Breast Cancer Res Treat 2007 Apr

Methylenetetrahydrofolate reductase (MTHFR) and breast cancer risk: a nested-case-control study and a pooled meta-analysis
Langsenlehner T, et al.
Breast Cancer Res Treat 2007 Apr

MDR1 gene polymorphisms and risk of recurrence in patients With hepatocellular carcinoma after liver transplantation
Wu L, et al.
J Surg Oncol 2007 Apr

Non-synonymous polymorphisms in the circadian gene NPAS2 and breast cancer risk
Zhu Y, et al.
Breast Cancer Res Treat 2007 Apr

Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet
Curtin K, et al.
Carcinogenesis 2007 Apr

A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers
Sun T, et al.
Nat Genet 2007 Apr

Low-Activity V89L Variant in SRD5A2 Is Associated with Aggressive Prostate Cancer Risk: An Explanation for the Adverse Effects Observed in Chemoprevention Trials Using 5-Alpha-Reductase Inhibitors
Cussenot O, et al.
Eur Urol 2007 Apr

Vitamin D receptor (VDR) gene polymorphisms and haplotypes, interactions with plasma 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and prostate cancer risk
Mikhak B, et al.
Prostate 2007 Apr;67(9):911-23

Glutathione-S-transferase genotypes influence prognosis in follicular non-Hodgkin's Lymphoma
Hohaus S, et al.
Leuk Lymphoma 2007 Mar;48(3):564-9

CYP450 polymorphisms predict clinic outcomes to vinorelbine-based chemotherapy in patients with non-small-cell lung cancer
Pan JH, et al.
Acta Oncol 2007;46(3):361-6

 

Endocrine, Nutritional and Metabolic Diseases

Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus
Hirota Y, et al.
Metabolism 2007 May;56(5):656-61

Tumor necrosis factor alpha -238G>A genotype alters postprandial plasma levels of free fatty acids in obese individuals with type 2 diabetes mellitus
Fontaine-Bisson B, et al.
Metabolism 2007 May;56(5):649-55

Protective effect against type 2 diabetes mellitus identified within the ACDC gene in a black South African diabetic cohort
Olckers A, et al.
Metabolism 2007 May;56(5):587-92

A common interleukin 18 haplotype is associated with higher body mass index in subjects with diabetes and coronary heart disease
Thompson SR, et al.
Metabolism 2007 May;56(5):662-9

Effects of the renin-angiotensin system genes and salt sensitivity genes on blood pressure and atherosclerosis in the total population and patients with type 2 diabetes
Yazdanpanah M, et al.
Diabetes 2007 Apr

ATF6 polymorphisms and haplotypes are associated with impaired glucose homeostasis and type 2 diabetes in Dutch Caucasians
Meex SJ, et al.
J Clin Endocrinol Metab 2007 Apr

Etiology of early-onset type 2 diabetes in Indians: islet autoimmunity and mutations in HNF 1 alpha and mitochondrial gene
Sahu RP, et al.
J Clin Endocrinol Metab 2007 Apr

Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes
Florez JC, et al.
Diabetologia 2007 Apr

Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3 gene in extremely obese children and adolescents
Holter K, et al.
BMC Med Genet 2007 Apr;8(1):21

Variation analysis of beta(3)-adrenergic receptor and melanocortin-4 receptor genes in childhood obesity
Kinoshita T, et al.
Pediatr Int 2007 Apr;49(2):133-7

Modelling KIR-HLA genotype disparities in type 1 diabetes
van der Slik AR, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:101-5

Association of the GAA1013-->GAG polymorphism of the insulin-like growth factor-1 receptor (IGF1R) gene with premature pubarche
Roldan MB, et al.
Fertil Steril 2007 Apr

 

Mental Disorders

Association of the DRD2 gene Taq1A polymorphism and alcoholism: a meta-analysis of case-control studies and evidence of publication bias
Munafo MR, et al.
Mol Psychiatry 2007 May;12(5):454-61

Between- and Within-Family Association Test of the Dopamine Receptor D2 TaqIA Polymorphism and Alcohol Abuse and Dependence in a General Population Sample of Adults
Haberstick BC, et al.
J Stud Alcohol Drugs 2007 May;68(3):362-70

Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population
Loh EW, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

Investigation of variation in SNAP-25 and ADHD and relationship to co-morbid major depressive disorder
Kim JW, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

A meta-analysis of association studies between the 10-repeat allele of a VNTR polymorphism in the 3'-UTR of dopamine transporter gene and attention deficit hyperactivity disorder
Yang B, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia
Roig B, et al.
Mol Psychiatry 2007 Apr

Association between the DTNBP1 gene and intelligence: a case-control study in young patients with schizophrenia and related disorders and unaffected siblings
Zinkstok JR, et al.
Behav Brain Funct 2007 Apr;3(1):19

Tachykinin receptor 1 variants associated with aggression in suicidal behavior
Giegling I, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

Association of the 54-nucleotide repeat polymorphism of hPer3 with heroin dependence in Han Chinese population
Zou Y, et al.
Genes Brain Behav 2007 Apr

Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder
Unschuld PG, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

No interaction between the serotonin transporter polymorphism (5-HTTLPR) and childhood adversity or recent stressful life events on symptoms of depression: Results from two community surveys
Chipman P, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

Effect of Catechol O-Methyltransferase Val(158)Met Polymorphism on the P50 Gating Endophenotype in Schizophrenia
Lu BY, et al.
Biol Psychiatry 2007 Apr

Anorexia nervosa, perfectionism, and dopamine D4 receptor (DRD4)
Bachner-Melman R, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

Gene-lifecourse interaction for alcohol consumption in adolescence and young adulthood: Five monoamine genes
Guo G, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

DAT1 3'-UTR 9R allele: Preferential transmission in Indian children with attention deficit hyperactivity disorder
Das M & Mukhopadhyay K
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

Polymorphisms in dopamine receptor DRD1 and DRD2 genes and psychopathological and extrapyramidal symptoms in patients on long-term antipsychotic treatment
Dolzan V, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

An association of CYP2A6 genotype and smoking topography
Strasser AA, et al.
Nicotine Tob Res 2007 Apr;9(4):511-8

 

Diseases of the Nervous System and Sense Organs

Arg113His mutation of vanishing white matter is not present in multiple sclerosis
Lucas M, et al.
Mult Scler 2007 May;13(3):424-7

Gene-environment interactions in parkinsonism and Parkinson's disease: the Geoparkinson study
Dick F, et al.
Occup Environ Med 2007 Apr

Candidate gene association study of insulin signaling genes and Alzheimer's disease: Evidence for SOS2, PCK1, and PPARgamma as susceptibility loci
Hamilton G, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

Estrogen Receptor 1 gene (ESR1) variants in Alzheimer's disease. Results of a meta-analysis
Luckhaus C & Sand PG
Aging Clin Exp Res 2007 Apr;19(2):165-8

Genetic association between notch4 polymorphisms and Alzheimer's disease in the Japanese population
Shibata N, et al.
J Gerontol A Biol Sci Med Sci 2007 Apr;62(4):350-1

No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer's disease
Minster RL, et al.
Neurobiol Aging 2007 Apr

Apolipoprotein E alleles and sensorineural hearing loss
O'grady G, et al.
Int J Audiol 2007 Apr;46(4):183-6

Risk and protective haplotypes of the alpha-synuclein gene associated with Parkinson's disease differentially affect cognitive sequence learning
Keri S, et al.
Genes Brain Behav 2007 Apr

Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease
Harold D, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia
Brkanac Z, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Apr

 

Diseases of the Circulatory System

JAK2 V617F Mutation in Patients With Catastrophic Intra-abdominal Thromboses
McMahon C, et al.
Am J Clin Pathol 2007 May;127(5):736-43

Effect of the G-308A polymorphism of the tumor necrosis factor alpha gene on the risk of ischemic heart disease and ischemic stroke: a meta-analysis
Pereira TV, et al.
Am Heart J 2007 May;153(5):821-30

Angiotensin-Converting Enzyme I/D and {alpha}-Adducin Gly460Trp Polymorphisms. From Angiotensin-Converting Enzyme Activity to Cardiovascular Outcome
Li Y, et al.
Hypertension 2007 Apr

The fibrinogen gamma (FGG) 10034C>T polymorphism is associated with venous thrombosis
Grunbacher G, et al.
Thromb Res 2007 Apr

Neuregulin-1 genotype moderates the association between job strain and early atherosclerosis in young men
Hintsanen M, et al.
Ann Behav Med 2007 Apr;33(2):148-55

SLCO1B1 521T-->C functional genetic polymorphism and lipid-lowering efficacy of multiple-dose pravastatin in Chinese coronary heart disease patients
Zhang W, et al.
Br J Clin Pharmacol 2007 Apr

Association of ATP1A1 and Dear Single-Nucleotide Polymorphism Haplotypes With Essential Hypertension and Sex-Specific and Haplotype-Specific Effects
Glorioso N, et al.
Circ Res 2007 Apr

Prediction of Coronary Heart Disease Risk using a Genetic Risk Score: The Atherosclerosis Risk in Communities Study
Morrison AC, et al.
Am J Epidemiol 2007 Apr

Endothelin-1 gene and endothelial nitric oxide synthase gene polymorphisms in adolescents with juvenile and obesity-associated hypertension
Barath A, et al.
Acta Physiol Hung 2007 Mar;94(1-2):49-66

 

Diseases of the Respiratory System

Polymorphisms of glutathione S-transferase genes and functional activity in smokers with or without COPD
Chan-Yeung M, et al.
Int J Tuberc Lung Dis 2007 May;11(5):508-14

Vitamin D receptor gene polymorphisms and sputum conversion time in pulmonary tuberculosis patients
Babb C, et al.
Tuberculosis (Edinb) 2007 Apr

The SERPINE2 Gene is Associated with Chronic Obstructive Pulmonary Disease in Two Large Populations
Zhu G, et al.
Am J Respir Crit Care Med 2007 Apr

Parental Smoking Modifies the Relation between Genetic Variation in Tumor Necrosis Factor-alpha (TNF) and Childhood Asthma
Wu H, et al.
Environ Health Perspect 2007 Apr;115(4):616-22

 

Diseases of the Digestive System

MMP-2, MMP-9 and TIMP-2 gene polymorphisms in Chinese patients with generalized aggressive periodontitis
Chen D, et al.
J Clin Periodontol 2007 May;34(5):384-9

Cytokine gene polymorphisms and the pathology of chronic gastritis
Moorchung N, et al.
Singapore Med J 2007 May;48(5):447-54

Interleukin-1 receptor antagonist gene polymorphism and gingivitis in children
Dashash M, et al.
Oral Dis 2007 May;13(3):308-13

Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease
Tervonen T, et al.
J Clin Periodontol 2007 May;34(5):377-83

Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals
Cichoz-Lach H, et al.
Scand J Gastroenterol 2007 Apr;42(4):493-8

Single-nucleotide polymorphisms in the IL-4 and IL-13 promoter region in aggressive periodontitis
Gonzales JR, et al.
J Clin Periodontol 2007 Apr

Association of DLG5 variants with inflammatory bowel disease in the New Zealand caucasian population and meta-analysis of the DLG5 R30Q variant
Browning BL, et al.
Inflamm Bowel Dis 2007 Apr

The 14-bp deletion polymorphism in the HLA-G gene displays significant differences between ulcerative colitis and Crohn's disease and is associated with ileocecal resection in Crohn's disease
Glas J, et al.
Int Immunol 2007 Apr

Confirmation of the role of ATG16l1 as a Crohn's disease susceptibility gene
Cummings JR, et al.
Inflamm Bowel Dis 2007 Apr

 

Diseases of the Genitourinary System

Association between oestrogen receptor {alpha} gene polymorphism and mortality in female end-stage renal disease patients
Kato S, et al.
Nephrol Dial Transplant 2007 Apr

Killer cell immunoglobulin-like receptor polymorphisms in HLA-identical kidney transplant recipients: lack of 2DL2 and 2DS2 may be associated with poor graft function
Cirocco RE, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:123-4

Interaction between cytochrome P450 gene polymorphisms and serum organochlorine TEQ levels in the risk of endometriosis
Tsuchiya M, et al.
Mol Hum Reprod 2007 Apr

 

Complications of Pregnancy, Childbirth, and the Puerperium

Outcome of the subsequent pregnancy after a first loss in women with the factor V Leiden or prothrombin 20210A mutations
Coppens M, et al.
J Thromb Haemost 2007 Apr

Recurrent spontaneous abortions patients have more -14 bp/+14 bp heterozygotes in the 3'UT region of the HLA-G gene in a Chinese Han population
Xue S, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:153-5

 

Diseases of the Skin and Subcutaneous Tissue

TNF-alpha Gene Promoter -238G>A and -308G>A Polymorphisms Alter Risk of Psoriasis Vulgaris: A Meta-Analysis
Li C, et al.
J Invest Dermatol 2007 Apr

 

Diseases of the Musculoskeletal System and Connective Tissue

The association between HLA genes and radiological erosions in Malaysian patients with rheumatoid arthritis
Yeap SS, et al.
Autoimmunity 2007 May;40(3):187-90

Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis
Mattuzzi S, et al.
J Rheumatol 2007 Apr

KIRs and autoimmune disease: studies in systemic lupus erythematosus and scleroderma
Pellett F, et al.
Tissue Antigens 2007 Apr;69 Suppl 1:106-8

The interferon-induced helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis
Marinou I, et al.
Arthritis Res Ther 2007 Apr;9(2):R40

Angiotensin-converting enzyme gene polymorphism in patients with psoriatic arthritis
Al-Awadhi AM, et al.
Rheumatol Int 2007 Apr

 

Congenital Anomalies

Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico
Munoz JB, et al.
Mol Hum Reprod 2007 Apr

Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease
Selamet Tierney ES, et al.
Cardiol Young 2007 Apr:1-7

Polymorphism C242T of the gene of the p22phox subunit for nicotinamide adenine dinucleotide phosphate oxidase, and erythrocytic antioxidant enzymes, in patients with tetralogy of Fallot
Guerra A, et al.

 

Injury and Poisoning

Genetic polymorphisms influencing arsenic metabolism: evidence from Argentina
Engstrom KS, et al.
Environ Health Perspect 2007 Apr;115(4):599-605

 

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Page last reviewed: April 26, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: CDC's Office of Public Health Genomics