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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 5, 2006
Volume 16, No. 1

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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

Estimated numbers and prevalence of PI*S and PI*Z alleles of {alpha}1-antitrypsin deficiency in European countries
Blanco I, et al.
Eur Respir J 2006 Jan;27(1):77-84

Analysis of genetic polymorphism of deoxyribonuclease I in ovambo and turk populations using a genotyping method
Fujihara J, et al.
Biochem Genet 2005 Dec;43(11-12):629-35

 

Infectious and Parasitic Diseases

Association between Severe Respiratory Syncytial Virus Infection and IL13/IL4 Haplotypes
Puthothu B, et al.
J Infect Dis 2006 Feb;193(3):438-41

 

Neoplasms

O(6)-alkylguanine-DNA alkyltransferase gene polymorphisms and the risk of primary lung cancer
Chae MH, et al.
Mol Carcinog 2005 Dec

Functional polymorphism in NFKB1 promoter is related to the risks of oral squamous cell carcinoma occurring on older male areca (betel) chewers
Lin SC, et al.
Cancer Lett 2005 Dec

Normal HLA class I, II, and MICA gene distribution in uveal melanoma
Metzelaar-Blok JA, et al.
Mol Vis 2005;11:1166-72

Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation
Magdalena N, et al.
Braz J Med Biol Res 2005 May;38(5):669-73

Evaluation of RAD50 in familial breast cancer predisposition
Tommiska J, et al.
Int J Cancer 2005 Dec

Polymorphisms in the growth hormone receptor: A case-control study in breast cancer
Wagner K, et al.
Int J Cancer 2005 Dec

HLA Class I and II Genotype in Uveal Melanoma: Relation to Occurrence and Prognosis
Maat W, et al.
Invest Ophthalmol Vis Sci 2006 Jan;47(1):3-6

Multi-drug transporter MDR1 gene polymorphism and prognosis in adult acute lymphoblastic leukemia
Jamroziak K, et al.
Pharmacol Rep 2005 Nov-2005 Dec;57(6):882-8

Interaction of OGG1 Ser326Cys polymorphism with cigarette smoking in head and neck squamous cell carcinoma
Hashimoto T, et al.
Mol Carcinog 2005 Dec

CYP17 MspA1 polymorphism and risk of biliary tract cancers and gallstones: A population-based study in Shanghai, China
Hou L, et al.
Int J Cancer 2005 Dec

Mutation analysis of PIK3CA and PIK3CB in esophageal cancer and Barrett's esophagus
Phillips WA, et al.
Int J Cancer 2005 Dec

Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers
Jung B, et al.
Int J Cancer 2005 Dec

The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor
Nathanson KL, et al.
Am J Hum Genet 2005 Dec;77(6):1034-43

 

Endocrine, Nutritional and Metabolic Diseases

Riboflavin Lowers Homocysteine in Individuals Homozygous for the MTHFR 677C->T Polymorphism
McNulty H, et al.
Circulation 2005 Dec

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations
Medlej-Hashim M, et al.
Eur J Med Genet 2005 Oct-2005 Dec;48(4):412-20

High-Density Haplotype Structure and Association Testing of the Insulin-Degrading Enzyme (IDE) Gene With Type 2 Diabetes in 4,206 People
Florez JC, et al.
Diabetes 2006 Jan;55(1):128-35

Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease
Simmonds MJ, et al.
J Clin Endocrinol Metab 2005 Dec

Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia
Aouizerat BE, et al.
J Lipid Res 2005 Dec

APOA5 variant Ser19Trp influences a decrease of the total cholesterol in a male 8 year cohort
Hubacek JA, et al.
Clin Biochem 2005 Dec

A single nucleotide polymorphism of the apolipoprotein A-V gene -1131T>C modulates postprandial lipoprotein metabolism
Moreno R, et al.
Atherosclerosis 2005 Dec

Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity
de Faria EJ, et al.
J Pediatr (Rio J) 2005 Nov-2005 Dec;81(6):485-90

 

Diseases of the Blood and Blood-Forming Organs Disorders

Polymorphisms in the IL-10 but not in the IL-1{beta} and IL-4 genes are associated with inhibitor development in patients with hemophilia A
Astermark J, et al.
Blood 2005 Dec

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
Gouya L, et al.
Am J Hum Genet 2006 Jan;78(1):2-14

 

Mental Disorders

Interleukin-10 -1082 promoter polymorphism is associated with schizophrenia in a Han Chinese sib-pair study
He G, et al.
Neurosci Lett 2005 Dec

No Alcoholism-Protection Effects of ADH1B*2 Allele in Antisocial Alcoholics among Han Chinese in Taiwan
Lu RB, et al.
Alcohol Clin Exp Res 2005 Dec;29(12):2101-7

Association between multidrug resistance 1 (MDR1) gene polymorphisms and therapeutic response to bromperidol in schizophrenic patients: A preliminary study
Yasui-Furukori N, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2005 Dec

Bipolar I Disorder and Schizophrenia: A 440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios
Fallin MD, et al.
Am J Hum Genet 2005 Dec;77(6):918-36

Association of an Asn40Asp (A118G) polymorphism in the mu-opioid receptor gene with substance dependence: A meta-analysis
Arias A, et al.
Drug Alcohol Depend 2005 Dec

Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: Case-control study of over 3000 individuals from the UK
Green EK, et al.
Br J Psychiatry 2006 Jan;188:21-5

 

Diseases of the Nervous System and Sense Organs

APOE alleles predict the rate of cognitive decline in Alzheimer disease: a nonlinear model
Martins CA, et al.
Neurology 2005 Dec;65(12):1888-93

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Snoeckx RL, et al.
Am J Hum Genet 2005 Dec;77(6):945-57

The LDLR locus in alzheimer's disease: A family-based study and meta-analysis of case-control data
Bertram L, et al.
Neurobiol Aging 2005 Dec

Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia
Schumacher J, et al.
Am J Hum Genet 2006 Jan;78(1):52-62

PIN1 promoter polymorphisms are associated with Alzheimer's disease
Segat L, et al.
Neurobiol Aging 2005 Dec

Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are Strongly Structured by Geographic and Haplotype Backgrounds
Chakrabarti S, et al.
Invest Ophthalmol Vis Sci 2006 Jan;47(1):43-7

Prevalence of the 35delG Mutation in the GJB2 Gene of Patients with Nonsyndromic Hearing Loss from Croatia
Sansovic I, et al.
Genet Test 2005 Winter;9(4):297-300

Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population
Souied EH, et al.
Mol Vis 2005;11:1135-40

Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF, VLDLR, and LRP6
Haines JL, et al.
Invest Ophthalmol Vis Sci 2006 Jan;47(1):329-35

Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG
Norberg A, et al.
Neurosci Lett 2005 Dec

Single nucleotide polymorphisms in the multidrug resistance 1 gene in Korean epileptics
Kim YO, et al.
Seizure 2005 Dec

Diseases of the Circulatory System

Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: Demand for strategies in the management of presymptomatic lamin A/C mutant carriers
Perrot A, et al.
Eur J Heart Fail 2005 Dec

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a northern greek population
Kalemi T, et al.
Biochem Genet 2005 Dec;43(11-12):637-42

Helicobacter pylori infection and the CD14 C(-260)T gene polymorphism in ischemic stroke
Park MH, et al.
Thromb Res 2005 Dec

Role of the pyrin M694V (A2080G) allele in acute myocardial infarction and longevity: a study in the Sicilian population
Grimaldi MP, et al.
J Leukoc Biol 2005 Dec

Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia
Al-Ali AK, et al.
Saudi Med J 2005 Dec;26(12):1886-8

Polymorphism of the glycoprotein Ia and IIIa in the group of women in childbirth does not correlate with an increased risk of developing thrombosis
Podciechowski L, et al.
Neuro Endocrinol Lett 2005 Dec;26(6)

Influence of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, B vitamins and other factors on plasma homocysteine and risk of thromboembolic disease in Chinese
Ho CH, et al.
J Chin Med Assoc 2005 Dec;68(12):560-5

Polymorphism of the angiotensin-converting enzyme (ACE) and angiotesinogen (AGT) genes and their associations with blood pressure and carotid artery intima media thickness among healthy Finnish young adults-the Cardiovascular Risk in Young Finns Study
Islam MS, et al.
Atherosclerosis 2005 Dec

Does Apolipoprotein E Genotype Influence the Risk of Ischemic Stroke, Intracerebral Hemorrhage, or Subarachnoid Hemorrhage? Systematic Review and Meta-Analyses of 31 Studies Among 5961 Cases and 17 965 Controls
Sudlow C, et al.
Stroke 2005 Dec

 

Diseases of the Respiratory System

Acute Asthma in Children: Relationship Between CD14 and CC16 Genotype, Plasma Levels and Severity
Martin AC, et al.
Am J Respir Crit Care Med 2005 Dec

Association of asthma with a functional promoter polymorphism in the IL16 gene
Burkart KM, et al.
J Allergy Clin Immunol 2006 Jan;117(1):86-91

Analysis of TGF-beta(1) gene polymorphisms in Hong Kong Chinese patients with asthma
Mak JC, et al.
J Allergy Clin Immunol 2006 Jan;117(1):92-6

Genetic polymorphisms in arginase I and II and childhood asthma and atopy
Li H, et al.
J Allergy Clin Immunol 2006 Jan;117(1):119-26

A testing framework for identifying susceptibility genes in the presence of epistasis
Millstein J, et al.
Am J Hum Genet 2006 Jan;78(1):15-27

Gene-gene interactions for asthma and plasma total IgE concentration in Chinese children
Chan IH, et al.
J Allergy Clin Immunol 2006 Jan;117(1):127-33

 

Diseases of the Digestive System

The relationship between the plasma homocysteine level and the polymorphism of MTHFR gene C667T in liver cirrhosis
Zhou XM, et al.
Zhonghua Gan Zang Bing Za Zhi 2005 Dec;13(12):908-10

Genetic Polymorphisms of CD14, Toll-like Receptor 4, and Caspase-Recruitment Domain 15 Are Not Associated with Necrotizing Enterocolitis in Very Low Birth Weight Infants
Szebeni B, et al.
J Pediatr Gastroenterol Nutr 2006 Jan;42(1):27-31

Positive Association of Macrophage Migration Inhibitory Factor Gene-173G/C Polymorphism with Biliary Atresia
Arikan C, et al.
J Pediatr Gastroenterol Nutr 2006 Jan;42(1):77-82

 

Diseases of the Genitourinary System

Genetic polymorphisms of the renin-angiotensin system in end-stage renal disease
Buraczynska M, et al.
Nephrol Dial Transplant 2005 Dec

Apolipoprotein A-IV Predicts Progression of Chronic Kidney Disease: The Mild to Moderate Kidney Disease Study
Boes E, et al.
J Am Soc Nephrol 2005 Dec

Polymorphism of the ACE Gene in Dialysis Patients: Overexpression of DD Genotype in Type 2 Diabetic End-Stage Renal Failure Patients
Park HC, et al.
Yonsei Med J 2005 Dec;46(6):779-87

Evaluation of clinical parameters and estrogen receptor alpha gene polymorphisms for patients with endometriosis
Renner SP, et al.
Reproduction 2006 Jan;131(1):153-61

 

Diseases of the Skin and Subcutaneous Tissue

Interaction between Genetic Control of Vascular Endothelial Growth Factor Production and Retinoid Responsiveness in Psoriasis
Young HS, et al.
J Invest Dermatol 2005 Dec

 

Diseases of the Musculoskeletal System and Connective Tissue

A functional haplotype of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Koreans
Kang CP, et al.
Arthritis Rheum 2005 Dec;54(1):90-6

Polymorphisms in the mannose-binding lectin gene as determinants of age-defined risk of coronary artery lesions in Kawasaki disease
Biezeveld MH, et al.
Arthritis Rheum 2005 Dec;54(1):369-76

Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population
Graessler J, et al.
Arthritis Rheum 2005 Dec;54(1):292-300

Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis
Burkhardt H, et al.
Arthritis Rheum 2005 Dec;54(1):82-9

Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, and PADI4
Plenge RM, et al.
Am J Hum Genet 2005 Dec;77(6):1044-60

 

Symptoms, Signs and Ill-defined Conditions

Effectiveness of finasteride on patients with male pattern baldness who have different androgen receptor gene polymorphism
Wakisaka N, et al.
J Investig Dermatol Symp Proc 2005 Dec;10(3):293-4

Phenotype-genotype analysis of CYP1A2 in Japanese patients receiving oral theophylline therapy
Takata K, et al.
Eur J Clin Pharmacol 2005 Dec:1-6

I405V polymorphism of the cholesteryl ester transfer protein (CETP) gene in young and very old people
Vergani C, et al.
Arch Gerontol Geriatr 2005 Dec

 

Injury and Poisoning

Lack of association between the IL1A gene (-889) polymorphism and outcome after head injury
Tanriverdi T, et al.
Surg Neurol 2006 Jan;65(1):7-10

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: CDC's Office of Public Health Genomics