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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 17, 2008
Volume 20, No. 3

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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

Distribution of KIR genes in the Czech population
Pavlova Y, et al.
Int J Immunogenet 2008 Feb;35(1):57-61

The 5-HTTLPR polymorphism in South African healthy populations: a global comparison
Esau L, et al.
J Neural Transm 2008 Jan

The normal distribution of PRNP codon 129 polymorphism in the Moroccan population (Arabs and Casablanca residents)
Nadifi S, et al.
Pathol Biol (Paris) 2008 Jan

 

Infectious and Parasitic Diseases

Genetic Deficiency of Chemokine Receptor CCR5 Is a Strong Risk Factor for Symptomatic West Nile Virus Infection: A Meta-Analysis of 4 Cohorts in the US Epidemic
Lim JK, et al.
J Infect Dis 2008 Jan

Polymorphisms of TNF-enhancer and gene for FcgammaRIIa correlate with the severity of falciparum malaria in the ethnically diverse Indian population
Sinha S, et al.
Malar J 2008 Jan;7(1):13

A Deletion in the Chemokine Receptor 5 (CCR5) Gene Is Associated with Tickborne Encephalitis
Kindberg E, et al.
J Infect Dis 2008 Jan

Clinical relevance of TLR2, TLR4, CD14 and FcgammaRIIA gene polymorphisms in Streptococcus pneumoniae infection
Yuan FF, et al.
Immunol Cell Biol 2008 Jan

 

Neoplasms

Polymorphic CAG and GGC repeat lengths in the androgen receptor gene and prostate cancer risk: analysis of a Brazilian population
Silva Neto B, et al.
Cancer Invest 2008 Feb;26(1):74-80

p53 Arg72Pro polymorphism predicts survival outcome in lung cancer patients in Indian population
Sreeja L, et al.
Cancer Invest 2008 Feb;26(1):41-6

RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans
Shea PR, et al.
Prostate 2008 Jan

Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype
Mitra A, et al.
Br J Cancer 2008 Jan

Renin-angiotensin system inhibitors, angiotensin I-converting enzyme gene insertion/deletion polymorphism, and cancer: the Rotterdam Study
van der Knaap R, et al.
Cancer 2008 Jan

Haplotype and genotypes of the VDR gene and cutaneous melanoma risk in non-Hispanic whites in Texas: A case-control study
Li C, et al.
Int J Cancer 2008 Jan

No association of the POLI Thr706Ala polymorphism with the risk of cervical carcinoma
Zhang J, et al.
Eur J Surg Oncol 2008 Jan

Association of cyclin D1 G870A polymorphism with uterine leiomyoma in women whose body mass index values are above 25 kg/m2
Han SS, et al.
Hum Reprod 2008 Jan

Combined effect of CCND1 and COMT polymorphisms and increased breast cancer risk
Onay UV, et al.
BMC Cancer 2008 Jan;8(1):6

Association of the CYP1B1*3 allele with survival in patients with prostate cancer receiving docetaxel
Sissung TM, et al.
Mol Cancer Ther 2008 Jan

Cigarette Smoking, N-Acetyltransferase 2 Genotypes, and Breast Cancer Risk: Pooled Analysis and Meta-analysis
Ambrosone CB, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jan

Polymorphisms in XPC and ERCC2 genes, smoking and breast cancer risk
Shore RE, et al.
Int J Cancer 2008 Jan

Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of  breast cancer in Cyprus
Loizidou MA, et al.
Breast Cancer Res Treat 2008 Jan

PIK3CA Exon 20 Mutation is Independently Associated with a Poor Prognosis in Breast Cancer Patients
Lai YL, et al.
Ann Surg Oncol 2008 Jan

IGF -I (CA) repeat polymorphisms and risk of cancer: a meta-analysis
Chen X, et al.
J Hum Genet 2008 Jan

Genetic variants in peroxisome proliferator-activated receptor-{gamma} gene are associated with risk of lung cancer in a Chinese population
Chen D, et al.
Carcinogenesis 2008 Jan

The association of cyclin D1 G870A and E-cadherin C-160A polymorphisms with the risk of colorectal cancer in a case control study and meta-analysis
Tan XL, et al.
Int J Cancer 2008 Jan

TNF polymorphisms and prostate cancer risk
Danforth KN, et al.
Prostate 2008 Jan

Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series
Rebours V, et al.
Am J Gastroenterol 2008 Jan;103(1):111-9

[Correlation of Interleukin-10-1082G/A Single Nucleotide Polymorphism to the Risk of Gastric Cancer in North China: A Case-Control Study.]
Bai XL, et al.
Ai Zheng 2008 Jan;27(1):35-40

 

Endocrine, Nutritional and Metabolic Diseases

Analysis of vascular endothelial growth factor gene 936 C/T polymorphism in patients with familial Mediterranean fever
Gunesacar R, et al.
Int J Immunogenet 2008 Feb;35(1):33-6

The -759C/T polymorphism of the 5-HT2C receptor is associated with type 2 diabetes in male and female Caucasians
Iordanidou M, et al.
Pharmacogenet Genomics 2008 Feb;18(2):153-9

A polymorphism (D20S32e) close to the human melanocortin receptor 3 is associated with insulin resistance but not the metabolic syndrome
Wong J, et al.
Diabetes Res Clin Pract 2008 Jan

Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy
Saccucci P, et al.
Tissue Antigens 2008 Jan

The MTHFR gene polymorphism is associated with lean body mass but not fat body mass
Liu X, et al.
Hum Genet 2008 Jan

SNAP-25 gene polymorphisms and weight gain in schizophrenic patients
Musil R, et al.
J Psychiatr Res 2008 Jan

Association between polymorphisms in the dopamine transporter gene and depression: evidence for a gene-environment interaction in a sample of juvenile detainees
Haeffel GJ, et al.
Psychol Sci 2008 Jan;19(1):62-9

The +869T/C polymorphism in the transforming growth factor-beta1 gene is associated with the severity and intractability of autoimmune thyroid disease
Yamada H, et al.
Clin Exp Immunol 2008 Jan

Diabetes and overweight associate with non-APOE4 genotype in an alzheimer's disease population
Profenno LA & Faraone SV
Am J Med Genet B Neuropsychiatr Genet 2008 Jan

The role of sex hormone-binding globulin and androgen receptor gene variants in the development of polycystic ovary syndrome
Xita N, et al.
Hum Reprod 2008 Jan

Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome
Kim JJ, et al.
Fertil Steril 2008 Jan

Association of the distal region of the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) gene with type 2 diabetes in an African American population enriched for nephropathy
Keene KL, et al.
Diabetes 2008 Jan

 

Mental Disorders

Association of COMT Val108/158Met genotype with smoking cessation
Munafo MR, et al.
Pharmacogenet Genomics 2008 Feb;18(2):121-8

MEGF10 Association with Schizophrenia
Chen X, et al.
Biol Psychiatry 2008 Jan

Role of BDNF Val66Met functional polymorphism in Alzheimer's disease-related depression
Borroni B, et al.
Neurobiol Aging 2008 Jan

Interleukin-1 receptor antagonist genotype and brain morphometry in first-episode non-affective psychosis
Roiz-Santianez R, et al.
Psychiatry Res 2008 Jan

TPH2 and TPH1: Association of Variants and Interactions with Heroin Addiction
Nielsen DA, et al.
Behav Genet 2008 Jan

Opioid neuropeptide genotypes in relation to heroin abuse: Dopamine tone contributes to reversed mesolimbic proenkephalin expression
Nikoshkov A, et al.
Proc Natl Acad Sci U S A 2008 Jan

Association Study of 10 Genes Encoding Neurotrophic Factors and Their Receptors in Adult and Child Attention-Deficit/Hyperactivity Disorder
Ribases M, et al.
Biol Psychiatry 2008 Jan

Genotype patterns that contribute to increased risk for or protection from developing heroin addiction
Nielsen DA, et al.
Mol Psychiatry 2008 Jan

Association of the serotonin transporter gene, neuroticism and smoking behaviours
O'Gara C, et al.
J Hum Genet 2008 Jan

Association study between polymorphisms in glutathione-related genes and methamphetamine use disorder in a Japanese population
Hashimoto T, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jan

Interactive effects of COMT Val108/158Met and MTHFR C677T on executive function in schizophrenia
Roffman JL, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jan

Cannabinoid receptor 1 gene (CNR1) and susceptibility to a quantitative phenotype for hebephrenic schizophrenia
Chavarria-Siles I, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jan

Family-based association of FKBP5 in bipolar disorder
Willour VL, et al.
Mol Psychiatry 2008 Jan

Family-based association study of lithium-related and other candidate genes in bipolar disorder
Perlis RH, et al.
Arch Gen Psychiatry 2008 Jan;65(1):53-61

The association of 5-HTTLPR and DRD4 VNTR polymorphisms with affective temperamental traits in healthy volunteers
Kang JI, et al.
J Affect Disord 2008 Jan

No association between the protein tyrosine phosphatase, receptor-type, Z Polypeptide 1 (PTPRZ1) gene and schizophrenia in the Japanese population
Ito Y, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jan

Association of the serotonin transporter polymorphism and obsessive-compulsive disorder: Systematic review
Bloch MH, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jan

Interactions between genotype and retrospective ADHD symptoms predict lifetime smoking risk in a sample of young adults
McClernon FJ, et al.
Nicotine Tob Res 2008 Jan;10(1):117-27

 

Diseases of the Nervous System and Sense Organs

Antipsychotic-induced tardive dyskinesia and polymorphic variations in COMT, DRD2, CYP1A2 and MnSOD genes: a meta-analysis of pharmacogenetic interactions
Bakker PR, et al.
Mol Psychiatry 2008 Jan

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot
Zeltser I, et al.
J Thorac Cardiovasc Surg 2008 Jan;135(1):91-7

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism
Arking DE, et al.
Am J Hum Genet 2008 Jan;82(1):160-4

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
Alarcon M, et al.
Am J Hum Genet 2008 Jan;82(1):150-9

Association of BACE1 Gene Polymorphism with Alzheimer's Disease in Asian Populations: Meta-Analysis Including Korean Samples
Jo SA, et al.
Dement Geriatr Cogn Disord 2008 Jan;25(2):165-9

Estrogen Receptors Alpha and Beta and the Risk of Open-angle Glaucoma: The Rotterdam Study
de Voogd S, et al.
Arch Ophthalmol 2008 Jan;126(1):110-4

Association Between Alzheimer's Disease and the NOS3 gene Glu298Asp Polymorphism  in Chinese
Wang B, et al.
J Mol Neurosci 2008 Jan

Progranulin genetic variability contributes to amyotrophic lateral sclerosis
Sleegers K, et al.
Neurology 2008 Jan

Possible Relationship between the COMT Gene VelMet Polymorphism and Psychometric  IQ in Girls of the Qinba Region in China
Zhang K, et al.
Neuropsychobiology 2008 Jan;56(2-3):98-103

C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism
Sweeten TL, et al.
BMC Med Genet 2008 Jan;9(1):1

Common CX3CR1 Alleles Are Associated With a Reduced Risk of Headaches
Combadiere C, et al.
Headache 2008 Jan

Enhanced Risk for Alzheimer Disease in Persons With Type 2 Diabetes and APOE {varepsilon}4: The Cardiovascular Health Study Cognition Study
Irie F, et al.
Arch Neurol 2008 Jan;65(1):89-93

Physical, social and productive leisure activities, cognitive decline and interaction with APOE-epsilon4 genotype in Chinese older adults
Niti M, et al.
Int Psychogeriatr 2008 Jan:1-15

3'UTR C2370A allele of the IL-23 receptor gene is associated with relapsing-remitting multiple sclerosis
Illes Z, et al.
Neurosci Lett 2007 Nov

 

Diseases of the Circulatory System

Adiponectin gene polymorphism 45T>G is associated with carotid artery plaques in  patients with type 2 diabetes mellitus
Kim SH, et al.
Metabolism 2008 Feb;57(2):274-9

HLA-DPbeta chain may confer the susceptibility to hepatitis C virus-associated hypertrophic cardiomyopathy
Shichi D, et al.
Int J Immunogenet 2008 Feb;35(1):37-43

Renin polymorphisms and haplotypes are associated with blood pressure levels and  hypertension risk in postmenopausal women
Mansego ML, et al.
J Hypertens 2008 Feb;26(2):230-7

Genome-wide Association Study Identifies Genes for Biomarkers of Cardiovascular Disease: Serum Urate and Dyslipidemia
Wallace C, et al.
Am J Hum Genet 2008 Jan;82(1):139-49

The common 866G>A variant in the promoter of UCP2 is associated with decreased risk of coronary artery disease in type 2 diabetic men
Cheurfa N, et al.
Diabetes 2008 Jan

Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease
Ashley-Koch AE, et al.
Blood 2008 Jan

Factor XII C46T gene polymorphism and the risk of cerebral venous thrombosis
Reuner KH, et al.
Neurology 2008 Jan;70(2):129-32

The importance of the (TAAAA)n alleles at the SHBG gene promoter for the severity of coronary artery disease in postmenopausal women
Alevizaki M, et al.
Menopause 2008 Jan

Arachidonate 5-lipoxygenase (5-LO) promoter genotype and risk of myocardial infarction: A case-control study
Maznyczka A, et al.
Atherosclerosis 2008 Jan

Glucocorticoid receptor gene and risk of cardiovascular disease
van den Akker EL, et al.
Arch Intern Med 2008 Jan;168(1):33-9

The apolipoprotein AII rs5082 variant is associated with reduced risk of coronary artery disease in an Australian male population
Xiao J, et al.
Atherosclerosis 2008 Jan

 

Diseases of the Respiratory System

CCL5/RANTES chemokine gene promoter polymorphisms are not associated with atopic  and nonatopic asthma in a Spanish population
Muro M, et al.
Int J Immunogenet 2008 Feb;35(1):19-23

Lack of association between HLA-A, -B and -DRB1 alleles and the development of SARS: a cohort of 95 SARS-recovered individuals in a population of Guangdong, southern China
Xiong P, et al.
Int J Immunogenet 2008 Feb;35(1):69-74

IL13 gene polymorphisms modify the effect of exposure to tobacco smoke on persistent wheeze and asthma of childhood, a longitudinal study
Sadeghnejad A, et al.
Respir Res 2008 Jan;9(1):2

A Genetic Variation in Inositol polyphosphate 4 phosphatase A Enhances Susceptibility to Asthma
Sharma M, et al.
Am J Respir Crit Care Med 2008 Jan

The Influence of Genetic Polymorphisms of GSTP1 on the Development of Asbestosis
Franko A, et al.
J Occup Environ Med 2008 Jan;50(1):7-12

 

Diseases of the Digestive System

The functional R620W variant of the PTPN22 gene is associated with celiac disease
Santin I, et al.
Tissue Antigens 2008 Jan

Human leukocyte antigen polymorphism in chronic and aggressive periodontitis among Caucasians: a meta-analysis
Stein JM, et al.
J Clin Periodontol 2008 Jan

Promoter polymorphism of transforming growth factor-beta1 gene and ulcerative colitis
Tamizifar B, et al.
World J Gastroenterol 2008 Jan;14(2):243-7
Diseases of the Genitourinary System

Association between recipient ICAM-1 K469 allele and renal allograft acute rejection
Tajik N, et al.
Int J Immunogenet 2008 Feb;35(1):9-13

Association of MCP-1 and CCR2 polymorphisms with the risk of late acute rejection after renal transplantation in Korean patients
Kang SW, et al.
Int J Immunogenet 2008 Feb;35(1):25-31

 

Complications of Pregnancy, Childbirth, and the Puerperium

Interleukin-6-174 Genotype, Periodontal Disease and Adverse Pregnancy Outcomes: A Pilot Study
Dashash M, et al.
J Clin Immunol 2008 Jan

Mutations in the glucokinase gene of the fetus result in reduced placental weight
Shields BM, et al.
Diabetes Care 2008 Jan

 

Diseases of the Skin and Subcutaneous Tissue

Association between P478S polymorphism of the filaggrin gene and risk of psoriasis in a Chinese population in Taiwan
Chang YC, et al.
Arch Dermatol Res 2008 Jan

Genetic analysis of autoimmune regulator haplotypes in alopecia areata
Wengraf DA, et al.
Tissue Antigens 2007 Jan

 

Diseases of the Musculoskeletal System and Connective Tissue

Low body mass not vitamin d receptor polymorphisms predict osteoporosis in patients with inflammatory bowel disease
Noble CL, et al.
Aliment Pharmacol Ther 2008 Jan

The Mal/TIRAP S180L and TLR4 G299D polymorphisms are not associated with susceptibility to or severity of rheumatoid arthritis
Sheedy FJ, et al.
Ann Rheum Dis 2008 Jan

Genetic Variation in the CRP Promoter: Association with Systemic Lupus Erythematosus (SLE)
Edberg JC, et al.
Hum Mol Genet 2008 Jan

Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility
Tander B, et al.
Rheumatol Int 2008 Jan

Differential CCR5Delta32 allelic frequencies in juvenile idiopathic arthritis subtypes: evidence for different regulatory roles of CCR5 in rheumatological diseases
Scheibel I, et al.
Scand J Rheumatol 2008 Jan-2008 Feb;37(1):13-7

 

Symptoms, Signs and Ill-defined Conditions

NRF-1 genotypes and endurance exercise capacity in young Chinese men
He Z, et al.
Br J Sports Med 2008 Jan

 

Injury and Poisoning

APOE, APOE Promoter, and Tau Genotypes and Risk for Concussion in College Athletes
Terrell TR, et al.
Clin J Sport Med 2008 Jan;18(1):10-7

Epistatic Interactions are Critical to Gene-Association Studies: PAI-1 and Risk for Mortality After Burn Injury
Barber RC, et al.
J Burn Care Res 2008 Jan-2008 Feb;29(1):168-75

 

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Page last reviewed: January 17, 2008 (archived document)
Content Source: National Office of Public Health Genomics