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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
December 7, 2006
Volume 17, No. 22

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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

Genetic analyses of thiopurine methyltransferase polymorphisms in Greenlandic and Danish populations
Toft N, et al.
Acta Paediatr 2006 Dec;95(12):1665-7

Abnormal haemoglobin variants, ABO and Rh blood groups among student of African descent in Port Harcourt, Nigeria
Jeremiah ZA
Afr Health Sci 2006 Sep;6(3):177-81

Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India
Sankar VH, et al.
J Appl Genet 2006;47(4):391-5

 

Infectious and Parasitic Diseases

A mutation in the interferon sensitivity-determining region is associated with responsiveness to interferon-ribavirin combination therapy in chronic hepatitis patients infected with a Japan-specific subtype of hepatitis C virus genotype 1b
Murayama M, et al.
J Med Virol 2006 Nov;79(1):35-40

IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan
Salih MA, et al.
Genes Immun 2006 Nov

Lack of association of tumor necrosis factor-alpha polymorphisms with Chagas disease in Brazilian patients
Drigo SA, et al.
Immunol Lett 2006 Nov

           

 

Neoplasms

Role of the STK15 Phe31Ile polymorphism in renal cell carcinoma
Hammerschmied CG, et al.
Oncol Rep 2007 Jan;17(1):3-7

Polymorphism and circulating levels of the chemokine CXCL12 in colorectal cancer patients
Dimberg J, et al.
Int J Mol Med 2007 Jan;19(1):11-5

Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study
Gast A, et al.
Leukemia 2006 Nov

No Association Between p73 G4C14-to-A4T14 Polymorphism and the Risk of Lung Cancer in a Korean Population
Choi JE, et al.
Biochem Genet 2006 Nov

Polymorphism of IL-1alpha, IL-1beta and IL-10 in patients with advanced ovarian cancer: Results of a prospective study with 147 patients
Ioana Braicu E, et al.
Gynecol Oncol 2006 Nov

5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
Hayes VM, et al.
Int J Cancer 2006 Nov

The C allele of the GNB3 C825T polymorphism of the G protein beta3-subunit is associated with an increased risk for the development of oncocytic thyroid tumours
Sheu SY, et al.
J Pathol 2006 Nov;211(1):60-6

Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation
Vangsted A, et al.
Int J Cancer 2006 Nov

MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations
Hubner RA & Houlston RS
Int J Cancer 2006 Nov

Polymorphisms of the DNA polymerase beta gene in breast cancer
Sliwinski T, et al.
Breast Cancer Res Treat 2006 Nov

Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the CHEK2*1100delC Germline Mutation
Schmidt MK, et al.
J Clin Oncol 2006 Nov

Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study
Einarsdottir K, et al.
Breast Cancer Res 2006 Nov;8(6):R67

E-cadherin promoter polymorphisms are not associated with the aggressiveness of prostate cancer in Caucasian patients
Li HC, et al.
Urol Oncol 2006 Nov-2006 Dec;24(6):496-502

Transferase S-glutathione class p gene (GSTP1) polymorphism in thyroid cancer patients
Marciniak P, et al.
Endokrynol Pol 2006;57(5):509-15

The T/G mutation in exon 8 of hMSH2 gene in the sporadic colon cancer patients
Langner E, et al.
Acta Chir Iugosl 2006;53(2):57-60

 

Endocrine, Nutritional and Metabolic Diseases

-391 C to G substitution in the regulator of G-protein signalling-2 promoter increases susceptibility to the metabolic syndrome in white European men: consistency between molecular and epidemiological studies
Freson K, et al.
J Hypertens 2007 Jan;25(1):117-25

beta-2-Adrenergic receptor gene polymorphism confers susceptibility to Graves disease
Jazdzewski K, et al.
Int J Mol Med 2007 Jan;19(1):181-6

Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study
Hallman DM, et al.
Metabolism 2006 Dec;55(12):1574-81

Association of manganese superoxide dismutase gene polymorphism (V16A) with diabetic macular edema in Korean type 2 diabetic patients
Lee SJ & Choi MG
Metabolism 2006 Dec;55(12):1681-8

Absence of the Wild-type Allele (192 Base Pairs) of a Polymorphism in the Promoter Region of the IGF-I Gene but Not a Polymorphism in the Insulin Gene Variable Number of Tandem Repeat Locus Is Associated With Accelerated Weight Gain in Infancy
Landmann E, et al.
Pediatrics 2006 Dec;118(6):2374-9

Polymorphism in the Transcription Factor 7-Like 2 (TCF7L2) Gene Is Associated With Reduced Insulin Secretion in Nondiabetic Women
Munoz J, et al.
Diabetes 2006 Dec;55(12):3630-4

Evidence for non-HFE linked hemochromatosis in Asian Indians
Panigrahi I, et al.
Indian J Med Sci 2006 Dec;60(12):491-5

CHRM3 Gene Variation Is Associated With Decreased Acute Insulin Secretion and Increased Risk for Early-Onset Type 2 Diabetes in Pima Indians
Guo Y, et al.
Diabetes 2006 Dec;55(12):3625-9

The Kruppel-Like Factor 11 (KLF11) Q62R Polymorphism Is Not Associated With Type 2 Diabetes in 8,676 People
Florez JC, et al.
Diabetes 2006 Dec;55(12):3620-4

An association analysis of the HLA gene region in latent autoimmune diabetes in adults
Desai M, et al.
Diabetologia 2006 Dec

No evidence for a major role of polymorphisms during bupropion treatment
Hu J, et al.
Obesity (Silver Spring) 2006 Nov;14(11):1863-7

Genotypes and Haplotypes of CCR2 and CCR3 Genes in Japanese Cedar Pollinosis
Nakamura H, et al.
Int Arch Allergy Immunol 2006 Nov;142(4):329-34

VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile
Garcia D, et al.
Diabetes Res Clin Pract 2006 Nov

No association of type 1 diabetes with a functional polymorphism of the LRAP gene
Qu HQ, et al.
Mol Immunol 2006 Nov

ABCA1 Single Nucleotide Polymorphisms on High-Density Lipoprotein-Cholesterol and Overweight: the D.E.S.I.R. Study
Porchay I, et al.
Obesity (Silver Spring) 2006 Nov;14(11):1874-9

Association of a beta-2 adrenoceptor (ADRB2) gene variant with a blunted in vivo lipolysis and fat oxidation
Jocken JW, et al.
Int J Obes (Lond) 2006 Nov

INSIG-2 promoter polymorphism and obesity-related phenotypes: association study in 1428 members of 248 families
Hall DH, et al.
BMC Med Genet 2006 Nov;7(1):83

Interleukin-6 Gene Polymorphism -174G/C Influences Plasma Lipid Levels in Women
Henningsson S, et al.
Obesity (Silver Spring) 2006 Nov;14(11):1868-73

Relationships between the functional PPARalpha Leu162Val polymorphism and obesity, type 2 diabetes, dyslipidaemia, and related quantitative traits in studies of 5799 middle-aged white people
Sparso T, et al.
Mol Genet Metab 2006 Nov

 

Diseases of the Blood & Blood-Forming Organ Disorders

Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes
Origa R, et al.
Br J Haematol 2006 Nov

 

Mental Disorders

MDR1 Gene Polymorphism in Japanese Patients with Schizophrenia and Mood Disorders Including Depression
Qian W, et al.
Biol Pharm Bull 2006 Dec;29(12):2446-50

Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population
Richards M, et al.
Behav Brain Funct 2006 Nov;2(1):39

Tryptophan hydroxylase 1 gene (TPH1) moderates the influence of social support on depressive symptoms in adults
Jokela M, et al.
J Affect Disord 2006 Nov

Cholinergic Nicotinic Receptor Genes Implicated in a Nicotine Dependence Association Study Targeting 348 Candidate Genes with 3,713 SNPs
Saccone SF, et al.
Hum Mol Genet 2006 Nov

The Role of CYP2A6 in the Emergence of Nicotine Dependence in Adolescents
Audrain-McGovern J, et al.
Pediatrics 2006 Nov

Association of the gene encoding neurogranin with schizophrenia in males
Ruano D, et al.
J Psychiatr Res 2006 Nov

           

 

Diseases of the Nervous System and Sense Organs

Association of proinflammatory cytokine gene polymorphisms with susceptibility to otitis media
Patel JA, et al.
Pediatrics 2006 Dec;118(6):2273-9

Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
Kamm C, et al.
Neurology 2006 Nov;67(10):1857-9

The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between {beta}-amyloid production and tau phosphorylation in Alzheimer disease
Kimura R, et al.
Hum Mol Genet 2006 Nov

Mental Performance in Old Age Dependent on Cortisol and Genetic Variance in the Mineralocorticoid and Glucocorticoid Receptors
Kuningas M, et al.
Neuropsychopharmacology 2006 Nov

Apolipoprotein E4 polymorphism as a genetic predisposition to delirium in critically ill patients*
Ely EW, et al.
Crit Care Med 2006 Nov

 

Diseases of the Circulatory System

The functional variant of the CLC-Kb channel T481S is not associated with blood pressure or hypertension in Swedes
Fava C, et al.
J Hypertens 2007 Jan;25(1):111-6

Association of genetic polymorphisms of ACADSB and COMT with human hypertension
Kamide K, et al.
J Hypertens 2007 Jan;25(1):103-10

Association of the C-344T aldosterone synthase gene variant with essential hypertension: a meta-analysis
Sookoian S, et al.
J Hypertens 2007 Jan;25(1):5-13

Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors
Nishihama K, et al.
Int J Mol Med 2007 Jan;19(1):129-41

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
Humphries SE, et al.
J Med Genet 2006 Dec;43(12):943-9

beta2 Adrenoceptor (ADRB2) Pharmacogenetics and Cardiovascular Phenotypes during Laryngoscopy and Tracheal Intubation
Kaymak C, et al.
Int J Toxicol 2006 Nov-2006 Dec;25(6):443-9

Candidate Gene Genotypes, Along with Conventional Risk Factor Assessment, Improve Estimation of Coronary Heart Disease Risk in Healthy UK Men
Humphries SE, et al.
Clin Chem 2006 Nov

Smoking and the Platelet Fibrinogen Receptor Glycoprotein IIb/IIIA PlA1/A2 Polymorphism Interact in the Risk of Lacunar Stroke and Midterm Survival
Oksala NK, et al.
Stroke 2006 Nov

Increased risk of acute myocardial infarction and elevated levels of C-reactive protein in carriersof the Thr-87 variant of the ATP receptor P2Y11
Amisten S, et al.
Eur Heart J 2006 Nov

 

Diseases of the Respiratory System

Polymorphisms in the mannose binding lectin-2 gene and acute respiratory distress syndrome*
Gong MN, et al.
Crit Care Med 2006 Nov

 

Diseases of the Digestive System

The relationship between Helicobacter pylori infection and promoter polymorphism of the Nrf2 gene in chronic gastritis
Arisawa T, et al.
Int J Mol Med 2007 Jan;19(1):143-8

Expression of cyclooxygenase-2 and 5-lipoxygenase in nasal polyps associated with interleukin-4 promoter polymorphism -590
Park SK, et al.
Otolaryngol Head Neck Surg 2006 Dec;135(6):928-32

Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease-Are we there yet?
Radford-Smith G & Pandeya N
World J Gastroenterol 2006 Nov;12(44):7097-103

Relationship between Crohn's disease, infection with Mycobacterium avium subspecies paratuberculosis and SLC11A1 gene polymorphisms in Sardinian patients
Sechi LA, et al.
World J Gastroenterol 2006 Nov;12(44):7161-4

Heterozygous {beta} -globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis c
Sartori M, et al.

Gut 2006 Nov

 

Diseases of the Genitourinary System

Combinational effect of genes for the renin-angiotensin system in conferring susceptibility to diabetic nephropathy
Osawa N, et al.
J Hum Genet 2006 Dec

Genetic variants in peroxisome proliferator-activated receptor gamma influence insulin resistance and testosterone levels in normal women, but not those with polycystic ovary syndrome
Antoine HJ, et al.
Fertil Steril 2006 Dec

The impact of donor cytokine gene polymorphisms on the incidence of cytomegalovirus infection after kidney transplantation
Alakulppi NS, et al.
Transpl Immunol 2006 Nov;16(3-4):258-62

Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms: A preliminary study
Gendzekhadze K, et al.
Transpl Immunol 2006 Nov;16(3-4):194-9

 

Complications of Pregnancy, Childbirth, and the Puerperium

Matrix Metalloproteinase-9 Gene -1562C/T Polymorphism Mitigates Preeclampsia
Coolman M, et al.
Placenta 2006 Nov

High frequency of methylenetetrahydrofolate reductase 677TT genotype in Hungarian HELLP syndrome patients determined by quantitative real-time PCR
Nagy B, et al.
J Hum Hypertens 2006 Nov

Insertion-deletion polymorphism in the gene for angiotensin-converning enzyme (I/D ACE) in pregnant women with gestational diabetes
Dostalova Z, et al.
Ceska Gynekol 2006 Sep;71(5):369-73

 

Diseases of the Musculoskeletal System and Connective Tissue

Polymorphisms in the IL4 and IL4RA Genes in Colombian Patients with Rheumatoid Arthritis
Moreno O, et al.
J Rheumatol 2006 Nov

The association of homocysteine and its determinants MTHFR genotype, folate, vitamin B(12) and vitamin B(6) with bone mineral density in postmenopausal British women
Baines M, et al.
Bone 2006 Nov

No evidence of association between genetic variants of the PDCD1 ligands and SLE
Abelson AK, et al.
Genes Immun 2006 Nov

Association of Toll-like Receptor 4 Variants and Ankylosing Spondylitis: A Case-Control Study
Snelgrove T, et al.
J Rheumatol 2006 Nov

Single nucleotide polymorphisms in the interleukin-6 gene promoter, tumor necrosis factor-alpha gene promoter, and transforming growth factor-beta1 gene signal sequence as predictors of time to onset of aseptic loosening after total hip arthroplasty: prel
Kolundzic R, et al.
J Orthop Sci 2006 Nov;11(6):592-600

Tumor Necrosis Factor-alpha Promoter -308 A/G Polymorphism and Rheumatoid Arthritis Susceptibility: A Metaanalysis
Lee YH, et al.
J Rheumatol 2006 Nov

Association of a transmembrane polymorphism of Fcgamma receptor IIb (FCGR2B) with systemic lupus erythematosus in Taiwanese patients
Chen JY, et al.
Arthritis Rheum 2006 Nov;54(12):3908-17

Interleukin-10 promoter polymorphisms in giant cell arteritis
Boiardi L, et al.
Arthritis Rheum 2006 Nov;54(12):4011-7

Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis
Rueda B, et al.
Arthritis Rheum 2006 Nov;54(12):3815-9

Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population
Newman WG, et al.
Arthritis Rheum 2006 Nov;54(12):3820-7

The -169C/T polymorphism in FCRL3 is not associated with susceptibility to rheumatoid arthritis or systemic lupus erythematosus in a case-control study of Koreans
Choi CB, et al.
Arthritis Rheum 2006 Nov;54(12):3838-41

Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis
Gourh P, et al.
Arthritis Rheum 2006 Nov;54(12):3945-53

The 620W allele is the PTPN22 genetic variant conferring susceptibility to RA in a Dutch population
Wesoly J, et al.
Rheumatology (Oxford) 2006 Nov

The functional variant of the inhibitory Fcgamma receptor IIb (CD32B) is associated with the rate of radiologic joint damage and dendritic cell function in rheumatoid arthritis
Radstake TR, et al.
Arthritis Rheum 2006 Nov;54(12):3828-37

 

Injury and Poisoning

No evidence for the presence of apolipoprotein epsilon4, interleukin-lalpha allele 2 and interleukin-1beta allele 2 cause an increase in programmed cell death following traumatic brain injury in humans
Johnson VE, et al.
Clin Neuropathol 2006 Nov-2006 Dec;25(6):255-64

 

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