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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 17, 2007
Volume 18, No. 20

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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

KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations
Flores AC, et al.
Tissue Antigens 2007 Jun;69(6):568-76

Frequency distribution of the G/A alleles of the beta-fibrinogen gene in the Lebanese population
Shammaa DM, et al.
Mol Biol Rep 2007 May

Frequency of the frame-shifting CYP2D7 138delT polymorphism in a large, ethnically diverse sample population
Bhathena A, et al.
Drug Metab Dispos 2007 May

 

Infectious and Parasitic Diseases

Chronic hepatitis C infection and sicca syndrome: a clear association with HLA DQB1*02
Smyth CM, et al.
Eur J Gastroenterol Hepatol 2007 Jun;19(6):493-8

Chlamydia trachomatis infection, Fallopian tube damage and a mannose-binding lectin codon 54 gene polymorphism
Sziller I, et al.
Hum Reprod 2007 May

A TNF region haplotype offers protection from typhoid fever in Vietnamese patients
Dunstan SJ, et al.
Hum Genet 2007 May

Polymorphisms in IRF-1 associated with resistance to HIV-1 infection in highly exposed uninfected Kenyan sex workers
Ball TB, et al.
AIDS 2007 May;21(9):1091-101

SPP1 polymorphisms associated with HBV clearance and HCC occurrence
Shin HD, et al.
Int J Epidemiol 2007 May

 

Neoplasms

Tagging single nucleotide polymorphisms in excision repair cross-complementing group 1 (ERCC1) and risk of primary lung cancer in a Chinese population
Ma H, et al.
Pharmacogenet Genomics 2007 Jun;17(6):417-23

MDR1 polymorphism influences the outcome of multiple myeloma patients
Buda G, et al.
Br J Haematol 2007 Jun;137(5):454-6

Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast-ovarian cancer families from Kerala, South India
Syamala V, et al.
J Cancer Res Clin Oncol 2007 May

Impact of HER2 and EGFR gene status on gefitinib-treated patients with nonsmall-cell lung cancer
Soh J, et al.
Int J Cancer 2007 May

Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and the risk of primary Hepatocellular Carcinoma (HCC) in a Chinese population
Mu LN, et al.
Cancer Causes Control 2007 May

Polymorphisms in the matrix metalloproteinase-1, 3, and 9 promoters and susceptibility to adult astrocytoma in northern China
Lu Z, et al.
J Neurooncol 2007 May

HLA-DQA1 and -DQB1 allele typing in southern Taiwanese women with breast cancer
Chen PC, et al.
Clin Chem Lab Med 2007 May;45(5):611-4

BCRP gene polymorphisms are associated with susceptibility and survival of diffuse large B-cell lymphoma
Hu LL, et al.
Carcinogenesis 2007 May

Relationship between XRCC1 polymorphisms and susceptibility to prostate cancer in men from Han, Southern China
Xu Z, et al.
Asian J Androl 2007 May;9(3):331-8

A metalloproteinase-9 polymorphism which affects its expression is associated with increased risk for oral squamous cell carcinoma
Vairaktaris E, et al.
Eur J Surg Oncol 2007 May

ATM missense variant P1054R predisposes to prostate cancer
Meyer A, et al.
Radiother Oncol 2007 May

Genetic susceptibility according to three metabolic pathways in cancers of the lung and bladder and in myeloid leukemias in nonsmokers
Vineis P, et al.
Ann Oncol 2007 May

A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population
Yin J, et al.
Cancer Genet Cytogenet 2007 May;175(1):47-51

TAP1 gene polymorphisms and nasopharyngeal carcinoma risk in a Tunisian population
Hassen E, et al.
Cancer Genet Cytogenet 2007 May;175(1):41-6

Polymorphism in cytokine genes as prognostic markers in Hodgkin's lymphoma
Hohaus S, et al.
Ann Oncol 2007 May

Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study
Bai Y, et al.
BMC Cancer 2007 May;7(1):81

Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers
Michiels S, et al.
Carcinogenesis 2007 May

p53 codon 72 polymorphisms in human papillomavirus-negative and human papillomavirus-positive squamous cell carcinomas of the oropharynx
Perrone F, et al.
Cancer 2007 May

Gene-gene and gene-environment interactions between alcohol drinking habit and polymorphisms in alcohol-metabolizing enzyme genes and the risk of head and neck cancer in Japan
Hiraki A, et al.
Cancer Sci 2007 May

 

Endocrine, Nutritional and Metabolic Diseases

A Common Haplotype in the G-Protein-Coupled Receptor Gene GPR74 Is Associated with Leanness and Increased Lipolysis
Dahlman I, et al.
Am J Hum Genet 2007 Jun;80(6):1115-24

Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India
Kumar R, et al.
Tissue Antigens 2007 Jun;69(6):557-67

Beta-2-adrenergic receptor polymorphisms in cystic fibrosis
Steagall WK, et al.
Pharmacogenet Genomics 2007 Jun;17(6):425-30

The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population
Kumar J, et al.
Clin Genet 2007 May;71(5):415-8

Body Mass, DRD4, Physical Activity, Sedentary Behavior, and Family Socioeconomic Status: The Add Health Study
Guo G, et al.
Obesity (Silver Spring) 2007 May;15(5):1199-206

Heterogeneous Effect of Peroxisome Proliferator-activated Receptor {gamma}2 Ala12 Variant on Type 2 Diabetes Risk
Ludovico O, et al.
Obesity (Silver Spring) 2007 May;15(5):1076-81

Peroxisome Proliferator-activated Receptor {gamma} 2 and Acyl-CoA Synthetase 5 Polymorphisms Influence Diet Response
Adamo KB, et al.
Obesity (Silver Spring) 2007 May;15(5):1068-75

Genetic variation in catechol-O-methyltransferase (COMT) and obesity in the prostate, lung, colorectal, and ovarian (PLCO) cancer screening trial
Wang SS, et al.
Hum Genet 2007 May

Genetic variation within the APPL locus is not associated with metabolic or inflammatory traits in a healthy White population
Staiger H, et al.
Diabet Med 2007 May

UCP2 A55V variant is associated with obesity and related phenotypes in an aboriginal community in Taiwan
Wang TN, et al.
Int J Obes (Lond) 2007 May

A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population
Ochoa MC, et al.
Clin Endocrinol (Oxf) 2007 May;66(5):652-8

SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent
Barton JC, et al.
Blood Cells Mol Dis 2007 May

Tag SNP screening of the PDCD1 gene for association with Graves' disease
Newby PR, et al.
Clin Endocrinol (Oxf) 2007 May

Study of association between common variation in the IGF2 gene and indices of obesity and body size in middle-age men and women
Heude B, et al.
J Clin Endocrinol Metab 2007 May

Variation in FTO contributes to childhood obesity and severe adult obesity
Dina C, et al.
Nat Genet 2007 May

 

Mental Disorders

Association of Clozapine-Induced Weight Gain With a Polymorphism in the Leptin Promoter Region in Patients With Chronic Schizophrenia in a Chinese Population
Zhang XY, et al.
J Clin Psychopharmacol 2007 Jun;27(3):246-51

Evidence for association and epistasis at the DAOA/G30 and D-amino acid oxidase loci in an Irish schizophrenia sample
Corvin A, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

A Case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population
Guo SZ, et al.
Schizophr Res 2007 May

A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
Baum AE, et al.
Mol Psychiatry 2007 May

Interacting effects of the dopamine transporter gene and psychosocial adversity on attention-deficit/hyperactivity disorder symptoms among 15-year-olds from a high-risk community sample
Laucht M, et al.
Arch Gen Psychiatry 2007 May;64(5):585-90

Family-based association study of neuregulin-1 gene and psychosis in a Spanish sample
Rosa A, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Evidence for an Association of the Dopamine D5 Receptor Gene on Age at Onset of Attention Deficit Hyperactivity Disorder
Lasky-Su J, et al.
Ann Hum Genet 2007 May

Joint effect of dopaminergic genes on likelihood of smoking following treatment with bupropion SR
Swan GE, et al.
Health Psychol 2007 May;26(3):361-8

No evidence for a preferential transmission of the methylenetetrahydrofolate reductase 677T allele in families with schizophrenia offspring
Muntjewerff JW, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

The opioid system in alcohol and drug dependence: Family-based association study
Xuei X, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response
Mancama D, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

 

Diseases of the Nervous System and Sense Organs

High Incidence of GJB2 Mutations During Screening of Newborns for Hearing Loss in Austria
Ramsebner R, et al.
Ear Hear 2007 Jun;28(3):298-301

Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia
Risch NJ, et al.
Am J Hum Genet 2007 Jun;80(6):1188-93

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
Martin CL, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Alzheimer's disease: Case-control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample
Piccardi M, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer's disease
Arias-Vasquez A, et al.
Neurogenetics 2007 May

Genetic susceptibility to environmental toxicants in ALS
Morahan JM, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
Di Fonzo A, et al.
Neurology 2007 May;68(19):1557-62

DBH -1021C-->T does not modify risk or age at onset in Parkinson's disease
Chun LS, et al.
Ann Neurol 2007 May

Insulin degrading enzyme is genetically associated with Alzheimer's disease in the Finnish population
Vepsalainen S, et al.
J Med Genet 2007 May

 

Diseases of the Circulatory System

Insertion/deletion gene polymorphism of the angiotensin-converting enzyme and blood pressure changes in older adults. The Rotterdam study
Mattace-Raso FU, et al.
J Hum Hypertens 2007 May

Cyclooxygenase Polymorphisms and Risk of Cardiovascular Events: The Atherosclerosis Risk in Communities (ARIC) Study
Lee CR, et al.
Clin Pharmacol Ther 2007 May

Ethnic differences in the frequency of ENPP1/PC1 121Q genetic variant in the Dallas Heart Study cohort
Chandalia M, et al.
J Diabetes Complications 2007 May-2007 Jun;21(3):143-8

Association Between the Calcitonin-Related Peptide alpha (CALCA) Gene and Essential Hypertension in Japanese Subjects
Morita A, et al.
Am J Hypertens 2007 May;20(5):527-32

Endothelial Nitric Oxide Synthase Gene Intron 4, 27 bp Repeat Polymorphism and Essential Hypertension in the Kazakh Chinese Population
Deng F, et al.
Acta Biochim Biophys Sin (Shanghai) 2007 May;39(5):311-6

Lymphotoxin-alpha and galectin-2 SNPs are not associated with myocardial infarction in two different German populations
Sedlacek K, et al.
J Mol Med 2007 May

 

Diseases of the Respiratory System

IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma
Balaci L, et al.
Am J Hum Genet 2007 Jun;80(6):1103-14

P2X(7) and NRAMP1/SLC11 A1 gene polymorphisms in Mexican mestizo patients with pulmonary tuberculosis
Nino-Moreno P, et al.
Clin Exp Immunol 2007 Jun;148(3):469-77

Association of IL-8-251A/T polymorphism with incidence of Acute Respiratory Distress Syndrome (ARDS) and IL-8 synthesis after multiple trauma
Hildebrand F, et al.
Cytokine 2007 May

Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus associated diseases
Puthothu B, et al.
BMC Pulm Med 2007 May;7(1):6

 

Diseases of the Digestive System

MRP2 haplotypes confer differential susceptibility to toxic liver injury
Choi JH, et al.
Pharmacogenet Genomics 2007 Jun;17(6):403-15

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
Tzetis M, et al.
Clin Genet 2007 May;71(5):451-7

A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn's Disease and Is Independent of CARD15 and IBD5
Prescott NJ, et al.
Gastroenterology 2007 May;132(5):1665-71

A combination of alleles 2 of interleukin (IL)-1A ( -889 ) and IL-1B ( +3954 ) is associated with lower gingival bleeding tendency in plaque-induced gingivitis in young adults of Arabic heritage
Muller HP & Barrieshi-Nusair KM
Clin Oral Investig 2007 May

IL23R Variation Determines Susceptibility But Not Disease Phenotype in Inflammatory Bowel Disease
Tremelling M, et al.
Gastroenterology 2007 May;132(5):1657-64

 

Diseases of the Genitourinary System

Association of endothelial nitric oxide synthase gene intron 4 polymorphism with end-stage renal disease
Bellini MH, et al.
Nephrology (Carlton) 2007 Jun;12(3):289-93

Peroxisome proliferator-activated receptor gamma polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes
Pollex RL, et al.
J Diabetes Complications 2007 May-2007 Jun;21(3):166-71

RANTES/CCL5 polymorphisms as a risk factor for recurrent acute rejection
Kruger B, et al.
Clin Transplant 2007 May-2007 Jun;21(3):385-90

A case-control study of apoA5 -1131T-->C polymorphism that examines the role of triglyceride levels in diabetic nephropathy
Baum L, et al.
J Diabetes Complications 2007 May-2007 Jun;21(3):158-63

 

Diseases of the Musculoskeletal System and Connective Tissue

Allograft inflammatory factor-1 and tumor necrosis factor single nucleotide polymorphisms in systemic sclerosis
Otieno FG, et al.
Tissue Antigens 2007 Jun;69(6):583-91

Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a Risk Factor for and High Copy Number Is a Protective Factor against SLE Susceptibility in European
America
Yang Y, et al.
Am J Hum Genet 2007 Jun;80(6):1037-54

HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population
Douroudis K, et al.
Tissue Antigens 2007 Jun;69(6):592-6

Association of KIT gene polymorphisms with bone mineral density in postmenopausal Korean women
Kim SY, et al.
J Hum Genet 2007 May

 

Congenital Anomalies

The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population
Parle-McDermott A, et al.
Am J Med Genet A 2007 May

 

Certain Conditions Originating in the Perinatal Period

Type 2 Diabetes TCF7L2 Risk Genotypes Alter Birth Weight: A Study of 24,053 Individuals
Freathy RM, et al.
Am J Hum Genet 2007 Jun;80(6):1150-61

 

Symptoms, Signs and Ill-defined Conditions

Relationship between TFAM Gene Polymorphisms and Endurance Capacity in Response to Training
He Z, et al.
Int J Sports Med 2007 May

 

Injury and Poisoning

The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers
Chen B, et al.
Sci Total Environ 2007 May

 

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Page last reviewed: May 17, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics