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Office of Genomics and Disease Prevention

Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 28, 2004
Volume 13, No. 18

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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

Genetic Variations of the AHR Gene Encoding Aryl Hydrocarbon Receptor in a Japanese Population
Fukushima-Uesaka H, et al.
Drug Metab Pharmacokinet 2004 Sep;19(4):320-6

Molecular analysis of HLA allele frequencies and haplotypes in Baloch of Iran compared with related populations of Pakistan
Farjadian S, et al.
Tissue Antigens 2004 Nov;64(5):581-7

Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
Sutomo R, et al.
Pediatr Int 2004 Oct;46(5):565-9



Genetic polymorphism of the interferon-gamma gene in cervical carcinogenesis
Lai HC, et al.
Int J Cancer 2004 Oct

Influence of GSTM1, GSTT1, GSTP1 and NAT2 genotypes on the p53 mutational spectrum in bladder tumours
Ryk C, et al.
Int J Cancer 2004 Oct

Polymorphisms in angiotensin II type 1 receptor (AGTR1) and angiotensin I-converting enzyme (ACE) genes and breast cancer risk among chinese women in Singapore
Koh WP, et al.
Carcinogenesis 2004 Oct

NQO1 T allele associated with decreased risk of later age at diagnosis lung cancer among never smokers: results from a population-based study
Bock CH, et al.
Carcinogenesis 2004 Oct

CYP1A1, Cigarette Smoking, and Colon and Rectal Cancer
Slattery ML, et al.
Am J Epidemiol 2004 Nov;160(9):842-52

CYP3A4 Polymorphisms--Potential Risk Factors for Breast and Prostate Cancer: A HuGE Review
Keshava C, et al.
Am J Epidemiol 2004 Nov;160(9):825-41

HLA-E polymorphism in patients with nasopharyngeal carcinoma
Hirankarn N, et al.
Tissue Antigens 2004 Nov;64(5):588-92

No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma
Blankenburg S, et al.
Eur J Hum Genet 2004 Oct

CHEK2 Is a Multiorgan Cancer Susceptibility Gene
Cybulski C, et al.
Am J Hum Genet 2004 Oct;75(6)

Polymorphisms in the methylenetetrahydrofolate reductase gene and prostate cancer risk
Singal R, et al.
Int J Oncol 2004 Nov;25(5):1465-71

p16INK4a polymorphism: associations with tumour progression in patients with sporadic colorectal cancer
McCloud JM, et al.
Int J Oncol 2004 Nov;25(5):1447-52

Single nucleotide polymorphism in the hypoxia-inducible factor-1alpha gene in colorectal carcinoma
Kuwai T, et al.
Oncol Rep 2004 Nov;12(5):1033-7

Myeloperoxidase genotype, fruit and vegetable consumption, and breast cancer risk
Ahn J, et al.
Cancer Res 2004 Oct;64(20):7634-9

Functional haplotypes in the promoter of matrix metalloproteinase-2 predict risk of the occurrence and metastasis of esophageal cancer
Yu C, et al.
Cancer Res 2004 Oct;64(20):7622-8

NOD2 3020insC alone is not sufficient for colorectal cancer predisposition
Alhopuro P, et al.
Cancer Res 2004 Oct;64(20):7245-7

Association of HLA-DR4 (DRB1*0404) with human papillomavirus infection in patients with focal epithelial hyperplasia
Garcia-Corona C, et al.
Arch Dermatol 2004 Oct;140(10):1227-31

Absence of association with cancer risk and low frequency of alterations at a p53 responsive PIG3 gene polymorphism in breast and lung carcinomas
Gorgoulis VG, et al.
Mutat Res 2004 Nov;556(1-2):143-50


Endocrine, Nutritional and Metabolic Diseases

Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome
Chen ZJ, et al.
Zhonghua Fu Chan Ke Za Zhi 2004 Sep;39(9):582-5

HLA haplotypes associated with hemochromatosis mutations in the Spanish population
Pacho A, et al.
BMC Med Genet 2004 Oct;5(1):25

ARH missense polymorphisms and plasma cholesterol levels
Hubacek JA & Hyatt T
Clin Chem Lab Med 2004;42(9):989-90

Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency
Zhang B, et al.
Yi Chuan Xue Bao 2004 Sep;31(9):950-5

Association between vitamin D receptor gene polymorphisms and fasting idiopathic hypercalciuria in recurrent stone-forming patients
Rendina D, et al.
Urology 2004 Oct;64(4):833-8

Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots
Allard P, et al.
Clin Biochem 2004 Nov;37(11):1010-5


Mental Disorders

Association between the functional monoamine oxidase A gene polymorphism and aggressively driving behavior
Li FZ, et al.
Zhonghua Yu Fang Yi Xue Za Zhi 2004 Sep;38(5):321-3

Dopamine receptor DRD2 genotype and smoking cessation outcome following treatment with bupropion SR
Swan GE, et al.
Pharmacogenomics J 2004 Oct

Studies on the HPRT mutant frequency in T lymphocytes from healthy Indian male population as a function of age and smoking
Vivek Kumar PR, et al.
Mutat Res 2004 Nov;556(1-2):107-16

Diseases of the Nervous System and Sense Organs

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study
Baird PN, et al.
Clin Experiment Ophthalmol 2004 Oct;32(5):518-22

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
Klevering BJ, et al.
Eur J Hum Genet 2004 Oct

Common polymorphisms in methylenetetrahydrofolate reductase (MTHFR): relationships with plasma homocysteine concentrations and cognitive status in elderly northern italian subjects
Ravaglia G, et al.
Arch Gerontol Geriatr Suppl 2004(9):339-48


Diseases of the Circulatory System

Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy
Liu W, et al.
Chin Med J (Engl) 2004 Oct;117(10):1449-52

[Gene polymorphisms of rennin-Angiotensin system and coronary artery thrombosis disease] .
Zhu TN , et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2004 Oct;12(5):674-9

Polymorphisms in the P-selectin (CD62P) and P-selectin glycoprotein ligand-1 (PSGL-1) genes and coronary heart disease
Bugert P, et al.
Clin Chem Lab Med 2004;42(9):997-1004

Transcription factor MEF2A mutations in patients with coronary artery disease
Krishna Bhagavatula MR, et al.
Hum Mol Genet 2004 Oct

Endothelial nitric oxide synthase and methylenetetrahydrofolate reductase gene polymorphisms are associated with endothelial dysfunction in young, healthy men
Imamura A, et al.
Can J Cardiol 2004 Oct;20(12):1229-34

Significant associations of the alpha-adducin gene Gly460Trp polymorphism with serum bilirubin concentrations in Chinese essential hypertension patients
Yu YX, et al.
Yi Chuan Xue Bao 2004 Sep;31(9):941-9


Diseases of the Respiratory System

ACE I allele and eNOS G allele crosstalk may have a role in chronic obstructive pulmonary disease
Ahsan A, et al.
Clin Biochem 2004 Nov;37(11):1037-40

Genetic polymorphism in matrix metalloproteinase-9 and the susceptibility to chronic obstructive pulmonary disease in Han population of south China
Zhou M, et al.
Chin Med J (Engl) 2004 Oct;117(10):1481-4


Diseases of the Digestive System

The CD14 -159C-to-T promoter polymorphism in periodontal disease
Folwaczny M, et al.
J Clin Periodontol 2004 Nov;31(11):991-5

Polymorphisms in genes coding for enzymes metabolizing smoking-derived substances and the risk of periodontitis
Kim JS, et al.
J Clin Periodontol 2004 Nov;31(11):959-64


Diseases of the Genitourinary System

Glutathione S-transferase T1 deletion is a risk factor for developing end-stage renal disease in diabetic patients
Yang Y, et al.
Int J Mol Med 2004 Nov;14(5):855-9


Complications of Pregnancy, Childbirth, and the Puerperium

Beta2-adrenergic receptor gene polymorphisms and pregnancy outcome
Doh K, et al.
J Perinat Med 2004;32(5):413-7


Complications of Pregnancy, Childbirth, and the Puerperium

Association of insertion/deletion polymorphism of the angiotensin-converting enzyme gene with psoriasis
Ozkur M, et al.
Br J Dermatol 2004 Oct;151(4):792-5


Diseases of the Musculoskeletal System and Connective Tissue

Beta-adrenergic receptor gene SNPs are associated with rheumatoid arthritis in Northern Sweden

Xu B, et al.

Ann Rheum Dis 2004 Oct

Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an association with HLA-DR3

Price P, et al.

Tissue Antigens 2004 Nov;64(5):575-80

Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese
Horiuchi T, et al.
Int J Mol Med 2004 Nov;14(5):813-8


Congenital Anomalies

Effects of methionine synthase gene variation in parents on occurence of congenital heart disease in offspring
Zhu WL, et al.
Beijing Da Xue Xue Bao 2004 Jun;36(3):254-8


Certain Conditions Originating in the Perinatal Period

High birth weight is associated with human leukocyte antigen (HLA) DRB1*13 in full-term infants
Aroviita P, et al.
Eur J Immunogenet 2004 Feb;31(1):21-6


Symptoms, Signs, and Ill-defined Conditions

CYP3A Variation and the Evolution of Salt-Sensitivity Variants
Thompson EE, et al.
Am J Hum Genet 2004 Oct;75(6)


  Injury and Poisoning

Are genetic polymorphisms in OGG1, XRCC1 and XRCC3 genes predictive for the DNA strand break repair phenotype and genotoxicity in workers exposed to low dose ionising radiations?
Aka P, et al.
Mutat Res 2004 Nov;556(1-2):169-81

Urinary acetylated metabolites and N-acetyltransferase-2 genotype in human subjects treated with a para-phenylenediamine-containing oxidative hair dye
Nohynek GJ, et al.
Food Chem Toxicol 2004 Nov;42(11):1885-91


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The CDC Office of Genomics and Disease Prevention makes available the above information as a public service only. Providing this information does not constitute endorsement by the CDC.  Note that some links may become invalid over time.

Last Updated October 28, 2004