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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
August 14, 2008
Volume 21, No. 7

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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

Study of the HLA-A, B, DRB1 allele and haplotype frequencies of 4194 cord blood  samples in Guangzhou
Sha W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):473-6

CYP3A5*3, CYP3A4*1B and MDR1 C3435T genotype distributions in Ecuadorians
Sinues B, et al.
Dis Markers 2008;24(6):325-31

 

Infectious and Parasitic Diseases

The HCP5 Single-Nucleotide Polymorphism: A Simple Screening Tool for Prediction of Hypersensitivity Reaction to Abacavir
Colombo S, et al.
J Infect Dis 2008 Aug

Genetic Association of IL-10 Gene Promoter Polymorphism and HIV-1 Infection in North Indians
Chatterjee A, et al.
J Clin Immunol 2008 Aug

Integrin alpha V polymorphisms and haplotypes in a Korean population are associated with susceptibility to chronic hepatitis and hepatocellular carcinoma
Lee SK, et al.
Liver Int 2008 Aug

Human leukocyte antigen class I genotypes in relation to heterosexual HIV type 1  transmission within discordant couples
Tang J, et al.
J Immunol 2008 Aug;181(4):2626-35

 

Neoplasms

Genetic Polymorphism of Inosine Triphosphate Pyrophosphatase Is a Determinant of  Mercaptopurine Metabolism and Toxicity During Treatment for Acute Lymphoblastic Leukemia
Stocco G, et al.
Clin Pharmacol Ther 2008 Aug

A MDR1 (ABCB1) gene single nucleotide polymorphism predicts outcome of temozolomide treatment in glioblastoma patients
Schaich M, et al.
Ann Oncol 2008 Aug

Association between -174 G/C Promoter Polymorphism of the Interleukin-6 Gene and  Progression of Prostate Cancer in North Indian Population
Kesarwani P, et al.
DNA Cell Biol 2008 Aug

Polymorphisms of p21 and p27 jointly contribute to an earlier age at diagnosis of pancreatic cancer
Chen J, et al.
Cancer Lett 2008 Aug

A genetic polymorphism of the osteoprotegerin gene is associated with an increased risk of advanced prostate cancer
Narita N, et al.
BMC Cancer 2008 Aug;8(1):224

Paternal smoking, genetic polymorphisms in CYP1A1 and childhood leukemia risk
Lee KM, et al.
Leuk Res 2008 Aug

Phase I/II Pharmacokinetic and Pharmacogenomic Study of UGT1A1 Polymorphism in Elderly Patients With Advanced Non-Small Cell Lung Cancer Treated With Irinotecan
Yamamoto N, et al.
Clin Pharmacol Ther 2008 Aug

IL-1B -31T>C promoter polymorphism is associated with gastric stump cancer but not with early onset or conventional gastric cancers
Sitarz R, et al.
Virchows Arch 2008 Aug

Single nucleotide polymorphisms in the progesterone receptor gene and association with uterine leiomyoma tumor characteristics and disease risk
Renner SP, et al.
Am J Obstet Gynecol 2008 Aug

Influence of methylene tetrahydrofolate reductase polymorphisms and coadministration of antimetabolites on toxicity after high dose methotrexate*
van Kooten Niekerk PB, et al.
Eur J Haematol 2008 Aug

Genetic variants in GTF2H1 and risk of lung cancer: A case-control analysis in a  Chinese population
Wu W, et al.
Lung Cancer 2008 Aug

Polymorphisms and haplotypes of the NBS1 gene in childhood acute leukaemia
Mosor M, et al.
Eur J Cancer 2008 Aug

Genetic Variants in T Helper Cell Type 1, 2 and 3 Pathways and Gastric Cancer Risk in a Polish Population
Mahajan R, et al.
Jpn J Clin Oncol 2008 Aug

CYP1A2, CYP2D6, GSTM1, GSTP1, and GSTT1 gene polymorphisms in patients with bladder cancer in a Turkish population
Altayli E, et al.
Int Urol Nephrol 2008 Aug

Association of genetic polymorphisms and haplotypes in hMLH1 and hMSH3 gene with the risk of papillary thyroid carcinoma
Shi W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):390-5

Genetic variants in RUNX3 and risk of bladder cancer: a haplotype-based analysis
Zhang Z, et al.
Carcinogenesis 2008 Aug

The 19-bp deletion of dihydrofolate reductase (DHFR), methylenetetrahydrofolate reductase (MTHFR) C677T, Factor V Leiden, prothrombin G20210A polymorphisms in cancer patients with and without thrombosis
Eroglu A, et al.
Ann Hematol 2008 Aug

 

Endocrine, Nutritional and Metabolic Diseases

Association of the 17-hydroxysteroid dehydrogenase type 5 gene polymorphism (-71A/G HSD17B5 SNP) with hyperandrogenemia in polycystic ovary syndrome (PCOS)
Marioli DJ, et al.
Fertil Steril 2008 Aug

Association of sterol regulatory element-binding protein-1c gene polymorphism with type 2 diabetes mellitus, insulin resistance and blood lipid levels in Chinese population
Liu JX, et al.
Diabetes Res Clin Pract 2008 Aug

Association of the Lipoprotein Lipase Gene T+495G Polymorphism With Central Obesity and Serum Lipids in a Twin Study
Li J, et al.
Ann Epidemiol 2008 Aug

LPIN1 genetic variation is associated with rosiglitazone response in type 2 diabetic patients
Kang ES, et al.
Mol Genet Metab 2008 Aug

Association of the polymorphism of codon 121 in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene with polycystic ovary syndrome in Chinese women
Shi Y, et al.
Saudi Med J 2008 Aug;29(8):1119-23

Predicting diabetes - clinical, biological and genetic approaches: the D.E.S.I.R. Study
Balkau B, et al.
Diabetes Care 2008 Aug

Is pharmacogenomics our future? Metformin, ovulation and polymorphism of the STK11 gene in polycystic ovary syndrome
Goldenberg N & Glueck CJ
Pharmacogenomics 2008 Aug;9(8):1163-5

Association of the Pro12Ala and C1431T polymorphism of the PPAR gamma2 gene and  their haplotypes with obesity and type 2 diabetes
Dong C, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):447-51

Polymorphisms of the tumor necrosis factor-alpha receptor 2 gene are associated with obesity phenotypes among 405 Caucasian nuclear families
Zhao LJ, et al.
Hum Genet 2008 Aug

[Association of polymorphism of proteintyrosine phosphatase nonreceptor-22 gene with AITD.]
Yu ZY, et al.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2008 Aug;24(8):804-7

Predicting type 2 diabetes based on polymorphisms from genome wide association studies: a population-based study
van Hoek M, et al.
Diabetes 2008 Aug

The -384A>C polymorphism of endothelial lipase gene promoter region in Chinese healthy normolipidemic and endogenous hypertriglyceridemic subjects
Huang Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):443-6

Expression levels of FAS are regulated through an evolutionary conserved element  in intron 2, which modulates cystic fibrosis disease severity
Kumar V, et al.
Genes Immun 2008 Aug

Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes
Andreasen CH, et al.
PLoS ONE 2008;3(8):e2872

 

Mental Disorders

Dopamine and opioid gene variants are associated with increased smoking reward and reinforcement owing to negative mood
Perkins KA, et al.
Behav Pharmacol 2008 Sep;19(5-6):641-9

Gene and gene by sex associations with initial sensitivity to nicotine in nonsmokers
Perkins KA, et al.
Behav Pharmacol 2008 Sep;19(5-6):630-40

Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population
Richards M, et al.
J Neural Transm 2008 Aug

Electrodermal reactivity during the Trier Social Stress Test for children: Interaction between the serotonin transporter polymorphism and children's attachment representation
Gilissen R, et al.
Dev Psychobiol 2008 Aug;50(6):615-25

Genetic correlates of olanzapine-induced weight gain in schizophrenia subjects from north India: role of metabolic pathway genes
Srivastava V, et al.
Pharmacogenomics 2008 Aug;9(8):1055-68

Lack of association between serotonin transporter gene polymorphism 5-HTTLPR and  smoking among Polish population: a case-control study
Sieminska A, et al.
BMC Med Genet 2008 Aug;9(1):76

The serotonin transporter gene and personality: association of the 5-HTTLPR s allele, anxiety, depression and affective temperaments
Gonda X
Orv Hetil 2008 Aug;149(33):1569-73

Gene x Environment Interactions at the Serotonin Transporter Locus
Munafo MR, et al.
Biol Psychiatry 2008 Aug

Association of dopamine and opioid receptor genetic polymorphisms with response to methadone maintenance treatment
Crettol S, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2008 Jul

 

Diseases of the Nervous System and Sense Organs

Genetic Association between SORL1 Polymorphisms and Alzheimer's Disease in a Japanese Population
Shibata N, et al.
Dement Geriatr Cogn Disord 2008 Aug;26(2):161-4

Apolipoprotein E epsilon4 allele genotype and the effect of depressive symptoms on the risk of dementia in men: the Honolulu-Asia Aging Study
Irie F, et al.
Arch Gen Psychiatry 2008 Aug;65(8):906-12

Genomic regulation of CTLA4 and Multiple Sclerosis
Palacios R, et al.
J Neuroimmunol 2008 Aug

Polymorphisms in the LOC387715/ARMS2 Putative Gene and the Risk for Alzheimer's Disease
Benerini Gatta L, et al.
Dement Geriatr Cogn Disord 2008 Aug;26(2):169-74

[Association of the low density lipoprotein receptor-related protein gene 766C/T  polymorphism with Alzheimer's disease in Xinjiang Uygurs and Hans.]
Zhou X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):455-8

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden
Valdmanis PN, et al.
Neurology 2008 Aug;71(7):514-20

The brain-derived neurotrophic factor (BDNF) Val66Met polymorphism is not significantly correlated to Transient Global Amnesia: Preliminary results of an on-going study in Brescia Province
Agosti C, et al.
Neurosci Lett 2008 Aug

Genetic Variation in the alpha7 Nicotinic Acetylcholine Receptor is Associated with Delusional Symptoms in Alzheimer's Disease
Carson R, et al.
Neuromolecular Med 2008 Aug

Lack of association of endothelial nitric oxide synthase polymorphisms and migraine
Toriello M, et al.
Headache 2008 Jul;48(7):1115-9

Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population
Xu Y, et al.
Mol Vis 2008;14:1373-81

 

Diseases of the Circulatory System

Variation in fibrinogen FGG and FGA genes and risk of stroke. The Rotterdam Study
Cheung EY, et al.
Thromb Haemost 2008 Aug;100(2):308-13

[Study on the association of thrombin activatable fibrinolysis inhibitor and the  Thr325Ile and Thr147Ala polymorphisms of its encoding gene CPB2 in patients with  coronary heart disease.]
Xu C, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):438-42

Comprehensive genetic analysis of the dipeptidyl peptidase-4 gene and cardiovascular disease risk factors in obese individuals
Bouchard L, et al.
Acta Diabetol 2008 Aug

Polymorphisms of RANTES and IL-4 Genes in Cerebral Infarction
Um JY & Kim HM
J Mol Neurosci 2008 Aug

Overweight, obesity, and the risk of recurrent venous thromboembolism
Eichinger S, et al.
Arch Intern Med 2008 Aug;168(15):1678-83

Phosphodiesterase 4D gene polymorphism is associated with ischemic and hemorrhagic stroke
Xue H, et al.
Clin Sci (Lond) 2008 Aug

 

Diseases of the Respiratory System

Study of gene-gene interactions for endophenotypic quantitative traits in Chinese asthmatic children
Chan IH, et al.
Allergy 2008 Aug;63(8):1031-9

Association of IL-6 gene polymorphisms and COPD in a Spanish Population
Cordoba-Lanus E, et al.
Respir Med 2008 Aug

COX2 and p53 risk-alleles coexist in COPD
Arif E, et al.
Clin Chim Acta 2008 Jul

Genes to diseases (G2D) computational method to identify asthma candidate genes
Tremblay K, et al.
PLoS ONE 2008;3(8):e2907

 

Diseases of the Digestive System

Interleukin 6 -174(G>C) gene polymorphism is related to celiac disease and autoimmune thyroiditis coincidence in diabetes type 1 children
Mysliwiec M, et al.
Diabetes Res Clin Pract 2008 Aug

 

Diseases of the Genitourinary System

Association of genetic polymorphism in plasminogen activator inhibitor-1 gene with endometrial hypoplasia in infertile women
Sun J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):462-4

Absence of association between a functional polymorphism of ALOX15 gene and infertility in endometriosis
Borghese B, et al.
Fertil Steril 2008 Aug

A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype
Minocherhomji S, et al.
Fertil Steril 2008 Aug

Association of estrogen receptor alpha and interleukin-10 gene polymorphisms with endometriosis in a Chinese population
Xie J, et al.
Fertil Steril 2008 Aug

Tumor necrosis factor-alpha -308 polymorphism in infertile men with altered sperm production or motility
Tronchon V, et al.
Hum Reprod 2008 Aug

TGF-beta1 gene polymorphisms and primary vesicoureteral reflux in childhood
Kowalewska-Pietrzak M, et al.
Pediatr Nephrol 2008 Aug

 

Complications of Pregnancy, Childbirth, and the Puerperium

Evidence for association of the G1733A polymorphism of the androgen receptor gene with recurrent spontaneous abortions
Karvela M, et al.
Fertil Steril 2008 Aug

 

Diseases of the Musculoskeletal System and Connective Tissue

Study on the polymorphism of killer cell immunoglobulin like receptor (KIR) gene with systemic lupus erythematosus of North population in China
Chen AM, et al.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2008 Aug;24(8):811-3

Modulatory effect of farnesyl pyrophosphate synthase (FDPS) rs2297480 polymorphism on the response to long-term amino-bisphosphonate treatment in postmenopausal osteoporosis
Marini F, et al.
Curr Med Res Opin 2008 Aug

Association of transforming growth factor beta1 gene polymorphism with rheumatoid arthritis in a Turkish population
Alayli G, et al.
Joint Bone Spine 2008 Aug

Non inherited maternal HLA antigens in susceptibility to familial rheumatoid arthritis
Guthrie KA, et al.
Ann Rheum Dis 2008 Aug

A Haplotype-Based Analysis of the LRP5 Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women
Agueda L, et al.
J Bone Miner Res 2008 Aug

Association of interleukin-18 gene polymorphism with genetic susceptibility to systematic lupus erythematosus in Guangxi Zhuang population
Lan Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Aug;25(4):434-7

 

Congenital Anomalies

AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts
Letra A, et al.
Birth Defects Res A Clin Mol Teratol 2008 Aug

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations
Sull JW, et al.
Am J Med Genet A 2008 Aug

 

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Page last reviewed: August 14, 2008 (archived document)
Content Source: National Office of Public Health Genomics