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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
December 28, 2006
Volume 17, No. 25

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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

Ethnicity-related polymorphisms and haplotypes in the human ABCB1 gene
Kimchi-Sarfaty C, et al.
Pharmacogenomics 2007 Jan;8(1):29-39

Polymorphisms of the MDR1 Gene in the Czech Population
Pechandova K, et al.
Folia Biol (Praha) 2006;52(6):184-9

 

Infectious and Parasitic Diseases

Transforming growth factor-beta1 polymorphisms in patients with brucellosis: an association between codon 10 and 25 polymorphisms and brucellosis
Rafiei A, et al.
Clin Microbiol Infect 2007 Jan;13(1):97-100

Lack of Toll-like Receptor 4 and 2 Polymorphisms in Korean Patients with Bacteremia
Yoon HJ, et al.
J Korean Med Sci 2006 Dec;21(6):979-82

Association of human leukocyte antigen polymorphism with hepatisi B virus infection and genotypes
Zhang SY, et al.
Jpn J Infect Dis 2006 Dec;59(6):353-7           

 

Neoplasms

Manganese superoxide dismutase polymorphism and risk of skin cancer (United States)
Han J, et al.
Cancer Causes Control 2007 Feb;18(1):79-89

Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
Horvath A, et al.
Cancer Res 2006 Dec;66(24):11571-5

ESR1, AR, body size, and breast cancer risk in Hispanic and non-Hispanic white women living in the Southwestern United States
Slattery ML, et al.
Breast Cancer Res Treat 2006 Dec

Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
Imanishi H, et al.
J Hum Genet 2006 Dec

Variant alleles of TGFB1 and TGFBR2 are associated with a decreased risk of gastric cancer in a Chinese population
Jin G, et al.
Int J Cancer 2006 Dec

Influence of polymorphisms at loci encoding DNA repair proteins on cancer susceptibility and G(2) chromosomal radiosensitivity
Wilding CS, et al.
Environ Mol Mutagen 2006 Dec

Genetic polymorphisms in the cyclooxygenase-2 gene, use of NSAIDs and breast cancer risk
Shen J, et al.
Breast Cancer Res 2006 Dec;8(6):R71

The T393C polymorphism in the gene GNAS1 of G protein is associated with survival of patients with invasive breast carcinoma
Otterbach F, et al.
Breast Cancer Res Treat 2006 Dec

Functional Polymorphisms in FAS and FASL Contribute to Increased Apoptosis of Tumor Infiltration Lymphocytes and Risk of Breast Cancer
Zhang B, et al.
Carcinogenesis 2006 Dec

Four novel single nucleotide polymorphisms within the promoter region of p53 gene and their associations with uterine leiomyoma
Hsieh YY, et al.
Mol Reprod Dev 2006 Dec

Interleukin-10
Eder T, et al.
Eur J Cancer 2006 Dec

Matrix metalloproteinase polymorphisms and bladder cancer risk
Kader AK, et al.
Cancer Res 2006 Dec;66(24):11644-8

Association of the GSTP1 and NQO1 Polymorphisms and Head and Neck Squamous Cell Carcinoma Risk
Cho CG, et al.
J Korean Med Sci 2006 Dec;21(6):1075-9

A Systematic Assessment of Common Genetic Variation in CYP11A and Risk of Breast Cancer
Setiawan VW, et al.
Cancer Res 2006 Dec;66(24):12019-25

 

Endocrine, Nutritional and Metabolic Diseases

Genetic polymorphisms, hormone levels, and hot flashes in midlife women
Schilling C, et al.
Maturitas 2006 Dec

Effects of the diabetes linked TCF7L2 polymorphism in a representative older population
Melzer D, et al.
BMC Med 2006 Dec;4(1):34

Immunoglobulin constant heavy G chain genes as risk factors in childhood allergies
Oxelius VA, et al.
Clin Exp Allergy 2006 Dec;36(12):1616-24

Analysis of the inducible nitric oxide synthase gene polymorphisms in Czech patients with atopic diseases
Holla LI, et al.
Clin Exp Allergy 2006 Dec;36(12):1592-601

A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses
Weedon MN, et al.
Am J Hum Genet 2006 Dec;79(6):991-1001

Genetic variations of the CDC2L2 gene are associated with type 2 diabetes in a Han Chinese cohort
Li Y, et al.
Diabetes Metab Res Rev 2006 Dec

 

Mental Disorders

The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women: findings from the British Women's Heart and Health Study
Lawlor DA, et al.
J Epidemiol Community Health 2007 Jan;61(1):85-7

Families with the Risk Allele of DISC1 Reveal a Link Between Schizophrenia and Another Component of the Same Molecular Pathway, NDE1
Hennah W, et al.
Hum Mol Genet 2006 Dec

The DRD2 TaqI-B polymorphism and its relationship to smoking abstinence and withdrawal symptoms
Robinson JD, et al.
Pharmacogenomics J 2006 Dec

ABCB1 and cytochrome P450 genotypes and phenotypes: Influence on methadone plasma levels and response to treatment
Crettol S, et al.
Clin Pharmacol Ther 2006 Dec;80(6):668-81

Association of G72/G30 polymorphisms with early-onset and male schizophrenia
Yue W, et al.
Neuroreport 2006 Dec;17(18):1899-902

The COMT Val158Met polymorphism is associated with novelty seeking in Czech methamphetamine abusers: Preliminary results
Hosak L, et al.
Neuro Endocrinol Lett 2006 Dec;27(6)

ABCG1 gene variants in suicidal behavior and aggression-related traits
Gietl A, et al.
Eur Neuropsychopharmacol 2006 Dec

Multiple ADH genes modulate risk for drug dependence
Luo X, et al.
Hum Mol Genet 2006 Dec

Tryptophan hydroxylase-2 gene variation influences personality traits and disorders related to emotional dysregulation
Gutknecht L, et al.
Int J Neuropsychopharmacol 2006 Dec:1-12

Interleukin 3 and schizophrenia: the impact of sex and family history
Chen X, et al.
Mol Psychiatry 2006 Dec

Association between a polymorphism in the promoter region of the TPH2 gene and the personality trait of harm avoidance
Reuter M, et al.
Int J Neuropsychopharmacol 2006 Dec:1-4

Association of the met66 allele of brain-derived neurotrophic factor (BDNF) with smoking
Lang UE, et al.
Psychopharmacology (Berl) 2006 Dec

DOPA decarboxylase gene is associated with nicotine dependence
Zhang H, et al.
Pharmacogenomics 2006 Dec;7(8):1159-66

Distribution of 1298A>C polymorphism of methylenetetrahydrofolate reductase gene in patients with bipolar disorder and schizophrenia
Kempisty B, et al.
Eur Psychiatry 2006 Dec

DRD4 7-repeat polymorphism moderates the association between maternal unresolved loss or trauma and infant disorganization
Van Ijzendoorn MH & Bakermans-Kranenburg MJ
Attach Hum Dev 2006 Dec;8(4):291-307

Linkage and association studies in African- and Caucasian-American populations demonstrate that SHC3 is a novel susceptibility locus for nicotine dependence
Li MD, et al.
Mol Psychiatry 2006 Dec

ABCB1 genetic variability and methadone dosage requirements in opioid-dependent individuals
Coller JK, et al.
Clin Pharmacol Ther 2006 Dec;80(6):682-90           

 

Diseases of the Nervous System and Sense Organs

The OPA1 Gene Polymorphism is Associated With Normal Tension and High Tension Glaucoma
Mabuchi F, et al.
Am J Ophthalmol 2007 Jan;143(1):125-30.e2

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan
Fung HC, et al.
BMC Neurol 2006 Dec;6(1):47

Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
Kay DM, et al.
Ann Neurol 2006 Dec

Glucocorticoid receptor variant and risk of dementia and white matter lesions
van Rossum EF, et al.
Neurobiol Aging 2006 Dec

A novel P755L mutation in LRRK2 gene associated with Parkinson's disease
Wu T, et al.
Neuroreport 2006 Dec;17(18):1859-62

Do Haplogroups H and U Act to Increase the Penetrance of Alzheimer's Disease?
Fesahat F, et al.
Cell Mol Neurobiol 2006 Dec

Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity
Nacmias B, et al.
Arch Gerontol Geriatr 2006 Dec

Apolipoprotein A-V gene polymorphism -1131T>C and Alzheimer's disease
Barbosa FA, et al.
J Alzheimers Dis 2006 Dec;10(4):365-9

No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease
Micheli D, et al.
J Alzheimers Dis 2006 Dec;10(4):371-8

 

Diseases of the Circulatory System

A Common Polymorphism in SCN5A is Associated with Lone Atrial Fibrillation
Chen LY, et al.
Clin Pharmacol Ther 2007 Jan;81(1):35-41

C-Reactive protein haplotype predicts serum C-reactive protein levels but not cardiovascular disease risk in a dialysis cohort
Zhang L, et al.
Am J Kidney Dis 2007 Jan;49(1):118-26

D-Allele of ACE Polymorphism is Associated With Increased Magnitude of QT Dispersion Prolongation in Elderly Chinese
Lin TH, et al.
Circ J 2007 Jan;71(1):39-45

beta(2)-Adrenergic receptor polymorphisms and treatment-induced regression of left ventricular hypertrophy in hypertension
Iaccarino G, et al.
Clin Pharmacol Ther 2006 Dec;80(6):633-45

Polymorphism in the MHC2TA Gene Is Associated with Features of the Metabolic Syndrome and Cardiovascular Mortality
Lindholm E, et al.
PLoS ONE 2006 Dec;1:e64

Association between estrogen receptor alpha and beta gene polymorphisms and deep vein thrombosis
Alessio AM, et al.
Thromb Res 2006 Dec

GST M1/T1 and MTHFR polymorphisms as risk factors for hypertension
Marinho C, et al.
Biochem Biophys Res Commun 2006 Dec

Mutations of presenilin genes in dilated cardiomyopathy and heart failure
Li D, et al.
Am J Hum Genet 2006 Dec;79(6):1030-9

Diuretic-gene interaction and the risk of myocardial infarction and stroke
Schelleman H, et al.
Pharmacogenomics J 2006 Dec

 

Diseases of the Respiratory System

Association of inducible nitric oxide synthase with asthma severity, total serum immunoglobulin E and blood eosinophil levels
Batra J, et al.
Thorax 2007 Jan;62(1):16-22

[Gene mutation of high affinity immunoglobulin E receptor beta-chain in children with asthma.]
Li M, et al.
Zhongguo Dang Dai Er Ke Za Zhi 2006 Dec;8(6):453-6

 

Diseases of the Digestive System

No evidence of association of the MYO9B polymorphisms with celiac disease in the Spanish population
Nunez C, et al.
Tissue Antigens 2006 Dec;68(6):489-92

 

Diseases of the Genitourinary System

Genetic association analysis of the adiponectin polymorphisms in type 1 diabetes with and without diabetic nephropathy
Ma J, et al.
J Diabetes Complications 2007 Jan-2007 Feb;21(1):28-33

Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia
Vutyavanich T, et al.
Asian J Androl 2007 Jan;9(1):68-75

Increased oxidative damage of sperm and seminal plasma in men with idiopathic infertility is higher in patients with glutathione S-transferase Mu-1 null genotype
Aydemir B, et al.
Asian J Androl 2007 Jan;9(1):108-15

Interleukin-10 gene promoter polymorphisms and their protein production in peritoneal fluid in patients with endometriosis
Zhang X, et al.
Mol Hum Reprod 2006 Dec

TPMT genotype and its clinical implication in renal transplant recipients with azathioprine treatment
Song DK, et al.
J Clin Pharm Ther 2006 Dec;31(6):627-35

A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent
Selvi Rani D, et al.
Fertil Steril 2006 Dec;86(6):1783-5

Angiotensin I-converting enzyme insertion-related genotypes and allele are associated with higher susceptibility of endometriosis and leiomyoma
Hsieh YY, et al.
Mol Reprod Dev 2006 Dec

Is typing for HLA class II alleles beneficial in Indian children with idiopathic nephrotic syndrome?
Gulati S, et al.
Pediatr Nephrol 2006 Dec

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association of the maternal 14-bp insertion polymorphism in the HLA-G gene in women with recurrent spontaneous abortions
Yan WH, et al.
Tissue Antigens 2006 Dec;68(6):521-3

Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes
Goddard KA, et al.
Hum Hered 2006 Dec;63(1):1-16

 

Diseases of the Skin and Subcutaneous Tissue

Association of Interleukin-10 Gene Promoter Polymorphism in Children with Atopic Dermatitis
Sohn MH, et al.
J Pediatr 2007 Jan;150(1):106-8

 

Diseases of the Musculoskeletal System and Connective Tissue

Pharmacogenetic study of methylenetetrahydrofolate reductase and thymidylate synthase in Japanese and assessment of ethnic and gender differences
Inoue S, et al.
Pharmacogenomics 2007 Jan;8(1):41-7

Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis
Montanaro L, et al.
Scoliosis 2006 Dec;1(1):21

Is the CD14 C159T polymorphism effective in the development of secondary amyloidosis in Familial Mediterranean fever?
Keskin O, et al.
Rheumatol Int 2006 Dec

FCRL3 promoter 169 CC homozygosity is associated with susceptibility to rheumatoid arthritis in Dutch Caucasians
Thabet MM, et al.
Ann Rheum Dis 2006 Dec

 

Congenital Anomalies

CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California Population
Enaw J, et al.
BMC Med 2006 Dec;4(1):36

 

Injury and Poisoning

Irinotecan-induced Diarrhea: Functional Significance of the Polymorphic ABCC2 Transporter Protein
de Jong FA, et al.
Clin Pharmacol Ther 2007 Jan;81(1):42-9

Genetic polymorphisms involved in toxicant-metabolizing enzymes and the risk of chronic benzene poisoning in Chinese occupationally exposed populations
Chen Y, et al.
Xenobiotica 2007 Jan;37(1):103-12

 

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