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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
August 10, 2006
Volume 17, No. 6

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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

[The genetic polymorphism of HLA-DQA1 and HLA-DQB1 genes of Chinese Han population in Jiangsu area is studied by PCR-squence-based typing.]
Hong X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):463-5

Study on genetic polymorphisms of CYP2F1 gene in Guangdong population of China
Jiang J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):383-7

CYP2A6 polymorphisms in Malays, Chinese and Indians
Nurfadhlina M, et al.
Xenobiotica 2006 Aug;36(8):684-92

Distribution of HLA-B allele polymorphism of 8962 Han population in Liaoning of China
Chen Y & Li J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):461-2

Distribution of 22 cytokine gene polymorphisms in the healthy Czech population
Kubistova Z, et al.
Int J Immunogenet 2006 Aug;33(4):261-7

Genetic link between Chaoshan and other Chinese Han populations: Evidence from HLA-A and HLA-B allele frequency distribution
Hu SP, et al.
Am J Phys Anthropol 2006 Aug

 

Infectious and Parasitic Diseases

Association of haplotype formed on HLA-DRB1 and HLA-DQA1 alleles with outcomes of hepatitis B virus infection
Lu L, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):427-30

Analysis of HLA-DQB1 gene polymorphisms in asymptomatic HBV carriers and chronic hepatitis B patients in the Chinese Han population
Xi-Lin Z, et al.
Int J Immunogenet 2006 Aug;33(4):249-54

Association of TNFA Promoter Region Haplotype in Behcet's Disease
Park KS, et al.
J Korean Med Sci 2006 Aug;21(4):596-601

Protease Inhibitor-Associated Dyslipidemia in HIV-Infected Patients Is Strongly Influenced by the APOA5-1131T->C Gene Variation
Guardiola M, et al.
Clin Chem 2006 Aug

Genetic polymorphisms of adhesion molecules in children with severe RSV-associated diseases
Krueger M, et al.
Int J Immunogenet 2006 Aug;33(4):233-5

TNF-alpha gene 1031 T/C polymorphism in Turkish patients with Behcet's disease
Akman A, et al.
Br J Dermatol 2006 Aug;155(2):350-6

Associated study on interleukin 10 gene promoter polymorphisms related to hepatitis B virus infection in Chinese Han population
Zhang P, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):410-4

Study on association between vitamin D receptor gene polymorphisms and the outcomes of HBV infection
Li J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):402-5

Effects of human TRIM5alpha polymorphisms on antiretroviral function and susceptibility to human immunodeficiency virus infection
Javanbakht H, et al.
Virology 2006 Aug

Interferon regulatory factor-1 promoter polymorphism and the outcome of hepatitis C virus infection
Wietzke-Braun P, et al.
Eur J Gastroenterol Hepatol 2006 Sep;18(9):991-7

Association of Polymorphisms of IGF1R and Genes in the Transforming Growth Factor- beta /Bone Morphogenetic Protein Pathway with Bacteremia in Sickle Cell Anemia
Adewoye AH, et al.
Clin Infect Dis 2006 Sep;43(5):593-8

           

 

Neoplasms

Possible correlation between polymorphism in the tumor necrosis factor-beta gene and the clinicopathological features of bladder cancer in Japanese patients
Nonomura N, et al.
Int J Urol 2006 Jul;13(7):971-6

Association of the methylenetetrahydrofolate reductase polymorphism in Korean patients with childhood acute lymphoblastic leukemia
Kim NK, et al.
Anticancer Res 2006 Jul-2006 Aug;26(4B):2879-81

The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: a case-control study
Skoglund J, et al.
Anticancer Res 2006 Jul-2006 Aug;26(4B):3077-81

Impact of the haplotype CYP3A4*16B harboring the Thr185Ser substitution on paclitaxel metabolism in Japanese patients with cancer
Nakajima Y, et al.
Clin Pharmacol Ther 2006 Aug;80(2):179-91

Cigarette smoking, von Hippel-Lindau gene mutations and sporadic renal cell carcinoma
van Dijk BA, et al.
Br J Cancer 2006 Aug;95(3):374-7

Polymorphism in Sp1 recognition site of the EGF receptor gene promoter and risk of glioblastoma
Carpentier C, et al.
Neurology 2006 Aug

RAD51 homologous recombination repair gene haplotypes and risk of acute myeloid leukaemia
Rollinson S, et al.
Leuk Res 2006 Aug

A Novel Functional Polymorphism in the Transforming Growth Factor-{beta}2 Gene Promoter and Tumor Progression in Breast Cancer
Beisner J, et al.
Cancer Res 2006 Aug;66(15):7554-61

Glutathione S-transferases mu1, theta1, pi1, alpha1 and mu3 genetic polymorphisms and the risk of colorectal and gastric cancers in humans
Martinez C, et al.
Pharmacogenomics 2006 Jul;7(5):711-8

Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China
Xu L, et al.
Int J Gynecol Cancer 2006 Jul;16(4):1661-7

Polymorphisms in Th1-type cell-mediated response genes and risk of gastric cancer
Hou L, et al.
Carcinogenesis 2006 Aug

The polymorphisms of GSTM1, GSTT1, HYL1*2, and XRCC1, and aflatoxin B1-related hepatocellular carcinoma in Guangxi population, China
Long XD, et al.
Hepatol Res 2006 Jul

Adenosine diphosphate ribosyl transferase and x-ray repair cross-complementing 1 polymorphisms in gastric cardia cancer
Miao X, et al.
Gastroenterology 2006 Aug;131(2):420-7

 

Endocrine, Nutritional and Metabolic Diseases

Protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene R620W variant and sporadic idiopathic hypoparathyroidism in Asian Indians
Ray D, et al.
Int J Immunogenet 2006 Aug;33(4):237-40

CYP19A1 genetic polymorphisms may be associated with obesity-related phenotypes in Chinese women
Long JR, et al.
Int J Obes (Lond) 2006 Aug

Association of CD14 Promoter Polymorphism with Otitis Media and Pneumococcal Vaccine Responses
Wiertsema SP, et al.
Clin Vaccine Immunol 2006 Aug;13(8):892-7

Common variants of Cholesteryl ester transfer protein gene and their association with lipid parameters in healthy volunteers of Tamilian population
Padmaja N, et al.
Clin Chim Acta 2006 Jul

The common -318C/T polymorphism in the promoter region of CTLA4 gene is associated with reduced risk of ophthalmopathy in Chinese Graves' patients
Han SZ, et al.
Int J Immunogenet 2006 Aug;33(4):281-7

Scanning the HNF4A gene mutation from Chinese pedigrees with earlyj and/or multiple-onset diabetes
Zhang R, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):406-9

 

Diseases of the Blood & Blood-Forming Organ Disorders

Influence of (G)gamma -158 C-->T and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects
Guida V, et al.
Haematologica 2006 Aug

VKORC1 gene variations are the major contributors of variation in warfarin dose in Japanese patients
Obayashi K, et al.
Clin Pharmacol Ther 2006 Aug;80(2):169-78

Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy
Limdi NA, et al.
Blood Cells Mol Dis 2006 Aug

ET-1 and ecNOS gene polymorphisms and susceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia
Chaar V, et al.
Haematologica 2006 Aug

 

Mental Disorders

Association of Fatty Acid Desaturase Genes with Attention-Deficit/Hyperactivity Disorder
Brookes KJ, et al.
Biol Psychiatry 2006 Aug

           

Brain-derived neurotrophic factor Val66Met polymorphism and dexamethasone/CRH test results in depressed patients
Schule C, et al.
Psychoneuroendocrinology 2006 Sep;31(8):1019-25

Genetic structure of the dopamine receptor D4 gene (DRD4) and lack of association with schizophrenia in Japanese patients
Mitsuyasu H, et al.
J Psychiatr Res 2006 Aug

Linkage disequilibrium, haplotype and association studies of a chromosome 4 GABA receptor gene cluster: Candidate gene variants for addictions
Drgon T, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Aug

A review and re-evaluation of an association between the NOTCH4 locus and schizophrenia
Wang Z, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Aug

Will genetic polymorphism of tetranucleotide sequences help in the diagnostics of major psychiatric disorders?
Jacewicz R, et al.
Forensic Sci Int 2006 Aug

Association between corticotropin-releasing hormone receptor 2 (CRHR2) gene polymorphism and personality traits
Tochigi M, et al.
Psychiatry Clin Neurosci 2006 Aug;60(4):524-6

Genetic Association and Brain Morphology Studies and the Chromosome 8p22 Pericentriolar Material 1 (PCM1) Gene in Susceptibility to Schizophrenia
Gurling HM, et al.
Arch Gen Psychiatry 2006 Aug;63(8):844-54

 

Diseases of the Nervous System and Sense Organs

The effect of APOE genotype on clinical phenotype in Alzheimer disease
van der Flier WM, et al.
Neurology 2006 Aug;67(3):526-7

CYP19 haplotypes increase risk for Alzheimer's disease
Huang R & Poduslo SE
J Med Genet 2006 Aug;43(8):e42

HLA-DQB1 allele polymorphism and clinical characteristics of 15 familial myasthenia gravis cases in north China
Yang H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):437-9

OPTN gene: Profile of patients with glaucoma from India
Sripriya S, et al.
Mol Vis 2006;12:816-20

The role of the Met98Lys Optineurin variant in inherited optic nerve diseases
Craig JE, et al.
Br J Ophthalmol 2006 Aug

mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese
Wang CY, et al.
Biochem Biophys Res Commun 2006 Jul

Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population
Seitsonen S, et al.
Mol Vis 2006;12:796-801

 

Diseases of the Circulatory System

Lecithin-cholesterol acyltransferase gene 608C/T polymorphism associated with atherosclerotic cerebral infarction
Zhu X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):419-22

Assessment of genetic risk for myocardial infarction
Yamada Y, et al.
Thromb Haemost 2006 Aug;96(2):220-7

Protective effect of apolipoprotein E2 on coronary artery disease in African Americans is mediated through lipoprotein cholesterol
Anuurad E, et al.
J Lipid Res 2006 Aug

Association of homocysteine (but not of MTHFR 677 C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily
Bosco P, et al.
Thromb Haemost 2006 Aug;96(2):154-9

A functional variant in the CARD4 gene and risk of premature coronary heart disease
El Mokhtari NE, et al.
Int J Immunogenet 2006 Aug;33(4):307-11

ACE gene insertion/deletion polymorphism and capillary permeability in hypertension
Dell'omo G, et al.
Clin Sci (Lond) 2006 Aug

Synergistic effect of Toll-like receptor 4 and CD14 polymorphisms on the total atherosclerosis burden in patients with peripheral arterial disease
Vainas T, et al.
J Vasc Surg 2006 Aug;44(2):326-32

Lead Exposure Is Associated with Decreased Serum Paraoxonase 1 (PON1) Activity and Genotypes
Li WF, et al.
Environ Health Perspect 2006 Aug;114(8):1233-6

Fibrinogen plasma levels modify the association between the factor XIII Val34Leu variant and risk of coronary artery disease; the EPIC-Norfolk prospective population study
Boekholdt SM, et al.
J Thromb Haemost 2006 Aug

Association between Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma 2 and myocardial infarction in the Chinese Han population
Li L, et al.
Clin Cardiol 2006 Jul;29(7):300-4

C677T mutation in methylentetrahydrofolatereductase gene in patients with venous thromboses from the central region of Russia correlates with a high risk of pulmonary artery thromboembolism
Ter Arkh 2006;78(6):70-6

 

Diseases of the Respiratory System

Arylamine N-acetyltransferase gene polymorphisms: markers for atopic asthma, serum IgE and blood eosinophil counts
Batra J, et al.
Pharmacogenomics 2006 Jul;7(5):673-82

Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma
Pettigrew MM, et al.
BMC Med Genet 2006 Aug;7(1):68

Lack of association between ADAM33 gene and asthma in a Chinese population
Wang P, et al.
Int J Immunogenet 2006 Aug;33(4):303-6

Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey (ECRHS), France
Guenegou A, et al.
J Med Genet 2006 Aug;43(8):e43

Glutathione S-transferase M1 and P1 genotype, passive smoking, and peak expiratory flow in asthma
Palmer CN, et al.
Pediatrics 2006 Aug;118(2):710-6

Association of Genetic Variations of Neurokinin-2 Receptor with Enhanced Cough Sensitivity to Capsaicin in Chronic Cough
Park HK, et al.
Thorax 2006 Aug

 

Diseases of the Digestive System

Fcgamma receptor polymorphisms and periodontal status: a prospective follow-up study
Wolf DL, et al.
J Clin Periodontol 2006 Aug

Apolipoprotein E Genotype and Gallbladder Disease Risk in a Large Population-Based Cohort
Boland LL, et al.
Ann Epidemiol 2006 Jul

Endothelial Nitric Oxide Synthase Glu298Asp Gene Polymorphism in Periodontal Diseases
Berdeli A, et al.
J Periodontol 2006 Aug;77(8):1348-54

A645G (Lys216Glu) polymorphism of the bactericidal/permeability-increasing protein gene in periodontal disease
Glas J, et al.
Int J Immunogenet 2006 Aug;33(4):255-60

A study on HLA-DQB1 allele associated with genetic susceptibility to duodenal ulcer in Guangdong Hans
Du Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):440-2

 

Diseases of the Genitourinary System

Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia
A ZC, et al.
Asian J Androl 2006 Aug

Relationship between PAI-1 gene 4G/5G polymorphism and clinical profile of IgA nephropathy
Ding R, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):449-51

Genetic variations of the NR3C1 gene in children with sporadic nephrotic syndrome
Ye J, et al.
Biochem Biophys Res Commun 2006 Jul

Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men
Tung JY, et al.
Reprod Biol Endocrinol 2006 Aug;4(1):40

 

Diseases of the Musculoskeletal System and Connective Tissue

Smoking interacts with genetic risk factors in the development of rheumatoid arthritis among older Caucasian women
Criswell LA, et al.
Ann Rheum Dis 2006 Aug

Relationship between the polymorphism of start codon and CDX2 site in vitamin D receptor gene and the effect of calcium supplementation on bone mineral density of postmenopausal women
Zhang Z, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):397-401

Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus
Snelling S, et al.
Rheumatology (Oxford) 2006 Aug

Disequilibrium linkage between the polymorphism in exons 2, 3 and 4 of the MICA gene and HLA-B antigen of patient with ankylosing spondylitis
Su H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Aug;23(4):446-8

Interleukin-1 receptor antagonist gene polymorphism in patients with rheumatoid arthritis in India
Grover S, et al.
Indian J Med Res 2006 Jun;123(6):815-20

IL-1B and IL-1RN gene polymorphisms in rheumatoid arthritis: relationship with protein plasma levels and response to therapy
Tolusso B, et al.
Pharmacogenomics 2006 Jul;7(5):683-95

 

Certain Conditions Originating in the Perinatal Period

Genetic polymorphisms of hemostasis genes and primary outcome of very low birth weight infants
Hartel C, et al.
Pediatrics 2006 Aug;118(2):683-9

 

Injury and Poisoning

Relationship of genetic polymorphism in APE1 and ADPRT to risks of chronic benzene poisoning
Sun P, et al.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2006 Jul;24(7):385-9

The role of XRCC1 polymorphisms in base excision repair of etheno-DNA adducts in French vinyl chloride workers
Li Y, et al.
Int J Occup Med Environ Health 2006;19(1):45-52

Association between polymorphisms of XPD gene and susceptibility to chronic benzene poisoning
Huang HL, et al.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2006 Jul;24(7):390-3

 

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