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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
November 1, 2007
Volume 19, No. 18

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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

Genetic polymorphisms of viral infection-associated Toll-like receptors in Chinese population
Cheng PL, et al.
Transl Res 2007 Nov;150(5):311-8

MTHFR C677T polymorphisms among the Ahirs and Jats of Haryana (India)
Saraswathy KN, et al.
Am J Hum Biol 2007 Oct

HLA-A, -B, -DR haplotype frequencies from DNA typing data of 26,266 Chinese bone  marrow donors
Du KM, et al.
Hum Immunol 2007 Oct;68(10):854-66

 

Infectious and Parasitic Diseases

Haplotypic diversity in human CEACAM genes: effects on susceptibility to meningococcal disease
Callaghan MJ, et al.
Genes Immun 2007 Oct

HLA-E*0101 allele in homozygous state favors severe bacterial infections in sickle cell anemia
Tamouza R, et al.
Hum Immunol 2007 Oct;68(10):849-53

 

Neoplasms

Association of breast cancer and cytokine gene polymorphism in Turkish women
Gonullu G, et al.
Saudi Med J 2007 Nov;28(11):1728-33

CYP2E1 Rsa I polymorphism impacts on risk of colorectal cancer association with smoking and alcohol drinking
Gao CM, et al.
World J Gastroenterol 2007 Nov;13(43):5725-30

Genetic polymorphisms of ADH2 and ALDH2 association with esophageal cancer risk in southwest China
Yang SJ, et al.
World J Gastroenterol 2007 Nov;13(43):5760-4

Fas 670 promoter polymorphism is associated to susceptibility, clinical presentation, and survival in adult T cell leukemia
Farre L, et al.
J Leukoc Biol 2007 Oct

Nijmegen Breakage Syndrome mutations and risk of breast cancer
Bogdanova N, et al.
Int J Cancer 2007 Oct

Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study
Choi JE, et al.
BMC Cancer 2007 Oct;7(1):199

Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma
Worrillow L, et al.
J Med Genet 2007 Oct

PTGS2 (COX-2) -765 G > C functional promoter polymorphism and its association with risk and lymph node metastasis in nasopharyngeal carcinoma
Ben Nasr H, et al.
Mol Biol Rep 2007 Oct

Prediction of response to chemotherapy by ERCC1 immunohistochemistry and ERCC1 polymorphism in ovarian cancer
Steffensen KD, et al.
Int J Gynecol Cancer 2007 Oct

Relationship between LAPTM4B gene polymorphism and susceptibility of colorectal and esophageal cancers
Cheng XJ, et al.
Ann Oncol 2007 Oct

Functional polymorphisms in the promoter regions of MMP2 and MMP3 are not associated with melanoma progression
Cotignola J, et al.
J Negat Results Biomed 2007 Oct;6(1):9

Association between lung cancer risk and single nucleotide polymorphisms in the first intron and codon 178 of the DNA repair gene, O(6)-alkylguanine-DNA alkyltransferase
Crosbie PA, et al.
Int J Cancer 2007 Oct

Genetic polymorphisms of MDM2, cumulative cigarette smoking and nonsmall cell lung cancer risk
Liu G, et al.
Int J Cancer 2007 Oct

Association between polymorphisms of folate-metabolizing enzymes and risk of prostate cancer
Marchal C, et al.
Eur J Surg Oncol 2007 Oct

Association of familial colorectal cancer with variants in the E-cadherin (CDH1)  and cyclin D1 (CCND1) genes
Grunhage F, et al.
Int J Colorectal Dis 2007 Oct

Prostate-Specific Antigen and 17-Hydroxylase Polymorphic Genotypes in Patients with Prostate Cancer and Benign Prostatic Hyperplasia
Gunes S, et al.
DNA Cell Biol 2007 Oct

Genetic Polymorphisms in the Apoptosis-Associated Genes FAS and FASL and Breast Cancer Risk
Crew K, et al.
Carcinogenesis 2007 Oct

Polymorphisms in the survivin gene and the risk of lung cancer
Jang JS, et al.
Lung Cancer 2007 Oct

 

Endocrine, Nutritional and Metabolic Diseases

Influence of genetic polymorphisms of glutathione S-transferases T1 and M1 on serum lipid parameters
Saadat M
Saudi Med J 2007 Nov;28(11):1645-7

Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese population: The Hisayama Study
Doi Y, et al.
Diabetes 2007 Nov;56(11):2829-33

LDLR and ApoB are Major Genetic Causes of Autosomal Dominant Hypercholesterolemia in a Taiwanese Population
Yang KC, et al.
J Formos Med Assoc 2007 Oct;106(10):799-807

Genetic association study of APOA1/C3/A4/A5 gene cluster and haplotypes on triglyceride and HDL cholesterol in a community-based population
Chien KL, et al.
Clin Chim Acta 2007 Oct

Polymorphism of glutathione S-transferase P1 gene affects human vitamin C metabolism
Higasa S, et al.
Biochem Biophys Res Commun 2007 Oct

Association analysis of IL1 gene polymorphisms in autoimmune thyroid diseases in  the Tunisian population
Kammoun-Krichen M, et al.
Eur Cytokine Netw 2007 Oct;18(4):17-21

Sex-specific interaction between APOE and APOA5 variants and determination of plasma lipid levels
Hubacek JA, et al.
Eur J Hum Genet 2007 Oct

FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traits
Duchatelet S, et al.
Biomed Pharmacother 2007 Oct

Evidence for association between vitamin D receptor BsmI polymorphism and type 1  diabetes in Japanese
Shimada A, et al.
J Autoimmun 2007 Oct

Gender-specific association of the PTPN22 C1858T polymorphism with achalasia
Santiago JL, et al.
Hum Immunol 2007 Oct;68(10):867-70

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea
Gallardo TD, et al.
Hum Reprod 2007 Oct

Variants in FTO gene are not associated with obesity in a Chinese Han population
Li H, et al.
Diabetes 2007 Oct

 

Mental Disorders

Lack of association between three serotonin genes and suicidal behavior in Chinese psychiatric patients
Zhang J, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2007 Oct

Tourette's syndrome is not associated with interleukin-10 receptor 1 variants on  chromosome 11q23.3
Kindler J, et al.
Psychiatry Res 2007 Oct

The BDNF Val66Met polymorphism predicts rumination and depression differently in  young adolescent girls and their mothers
Hilt LM, et al.
Neurosci Lett 2007 Oct

Genetic polymorphism in the DNA repair gene XRCC1 and susceptibility to schizophrenia
Saadat M, et al.
Psychiatry Res 2007 Oct

A multilevel analysis of the influence of Apolipoprotein E genotypes on depressive symptoms in late-life moderated by the environment
Yen YC, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2007 Oct

 

Diseases of the Nervous System and Sense Organs

Coding and Noncoding Variants in the CFH Gene and Cigarette Smoking Influence the Risk of Age-Related Macular Degeneration in a Japanese Population
Mori K, et al.
Invest Ophthalmol Vis Sci 2007 Nov;48(11):5315-9

No support for a truncated interferon-alpha 17 allele as risk factor for MS
Nystrom M, et al.
Eur J Neurol 2007 Nov;14(11):1302-4

TLR4 haplotypes in multiple sclerosis: A case-control study in the Spanish population
Urcelay E, et al.
J Neuroimmunol 2007 Oct

The prevalence of LRRK2 Gly238AArg variant in Chinese Han population with Parkinson's disease
Li C, et al.
Mov Disord 2007 Oct

PINK1 mutation in Taiwanese early-onset parkinsonism : Clinical, genetic, and dopamine transporter studies
Weng YH, et al.
J Neurol 2007 Oct;254(10):1347-55

Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis
Galimberti D, et al.
J Neurol Sci 2007 Oct

Heterogeneous association between engrailed-2 and autism in the CPEA network
Brune CW, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Diseases of the Circulatory System

Associations with myocardial infarction of six polymorphisms selected from a three-stage genome-wide association study
Horne BD, et al.
Am Heart J 2007 Nov;154(5):969-75

Manganese superoxide dismutase polymorphism affects the oxidized low-density lipoprotein-induced apoptosis of macrophages and coronary artery disease
Fujimoto H, et al.
Eur Heart J 2007 Oct

The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis
van Beynum IM, et al.
QJM 2007 Oct

Polymorphisms of the uridine-diphosphoglucuronosyltransferase 1A1 gene and coronary artery disease
Hsieh CJ, et al.
Cell Mol Biol Lett 2007 Oct

Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct
Zhu L, et al.
Cardiol Young 2007 Oct:1-7

DNA variants, plasma levels and variability of C-reactive protein in myocardial infarction survivors: results from the AIRGENE study
Kolz M, et al.
Eur Heart J 2007 Oct

Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women study
Cole JW, et al.
BMC Neurol 2007 Oct;7(1):37

A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease
Assimes TL, et al.
Atherosclerosis 2007 Oct

Inheritance and perinatal consequences of inherited thrombophilia in Greece
Karakantza M, et al.
Int J Gynaecol Obstet 2007 Oct

Intercellular Adhesion Molecule 1 (ICAM1) Lys56Met and Gly241Arg Gene Variants, Plasma-Soluble ICAM1 Concentrations, and Risk of Incident Cardiovascular Events in 23 014 Initially Healthy White Women
Zee RY, et al.
Stroke 2007 Oct

Migraine Mediates the Influence of C677T MTHFR Genotypes on Ischemic Stroke Risk  With a Stroke-Subtype Effect
Pezzini A, et al.
Stroke 2007 Oct

IL18 Haplotypes Are Associated with Serum IL-18 Concentrations in a Population-Based Study and a Cohort of Individuals with Premature Coronary Heart  Disease
Thompson SR, et al.
Clin Chem 2007 Oct

 

Diseases of the Respiratory System

Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations
Zhu G, et al.
Genes Immun 2007 Oct

Association of beta-defensin-1 gene polymorphisms with Pseudomonas aeruginosa airway colonization in cystic fibrosis
Tesse R, et al.
Genes Immun 2007 Oct

A nonfunctioning single nucleotide polymorphism in olfactory receptor gene family is associated with the forced expiratory volume in the first second/the forced vital capacity values of pulmonary function test in a Japanese population
Takabatake N, et al.
Biochem Biophys Res Commun 2007 Oct

 

Diseases of the Digestive System

Evidence for association between a Toll-like receptor 4 gene polymorphism and moderate/severe periodontitis in the Japanese population
Fukusaki T, et al.
J Periodontal Res 2007 Dec;42(6):541-5

Analysis of -1082 IL-10 gene polymorphism in Iranian patients with generalized aggressive periodontitis
Mellati E, et al.
Med Sci Monit 2007 Nov;13(11):CR510-4

NOD1 gene E266K polymorphism is associated with disease susceptibility but not with disease phenotype or NOD2/CARD15 in Hungarian patients with Crohn's disease
Molnar T, et al.
Dig Liver Dis 2007 Oct

Genetic Variation in Endocannabinoid Metabolism, Gastrointestinal Motility and Sensation
Camilleri M, et al.
Am J Physiol Gastrointest Liver Physiol 2007 Oct

The MYO9B Gene Is a Strong Risk Factor for Developing Refractory Celiac Disease
Wolters VM, et al.
Clin Gastroenterol Hepatol 2007 Oct

 

Diseases of the Genitourinary System

Association of XRCC1 gene polymorphisms with idiopathic azoospermia in a Chinese  population
Gu AH, et al.
Asian J Androl 2007 Nov;9(6):781-6

Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility
Zhang J, et al.
Asian J Androl 2007 Nov;9(6):809-14

Hyperhomocysteinemia and polymorphisms of the methylenetetrahydrofolate gene in hemodialysis and peritoneal dialysis patients
Domenici FA, et al.
Mol Nutr Food Res 2007 Oct;51(11):1430-6

Association analysis of podocyte slit diaphragm genes as candidates for diabetic  nephropathy
Ihalmo P, et al.
Diabetologia 2007 Oct

Vascular endothelial growth factor +936 C/T polymorphism is associated with an increased risk of endometriosis in a Japanese population
Ikuhashi Y, et al.
Acta Obstet Gynecol Scand 2007;86(11):1352-8

 

Complications of Pregnancy, Childbirth, and the Puerperium

Genotypes of the C677T and A1298C polymorphisms of the MTHFR gene as a cause of human spontaneous embryo loss
Callejon G, et al.
Hum Reprod 2007 Oct

 

Diseases of the Musculoskeletal System and Connective Tissue

Analysis of SAA1 gene polymorphisms in the Greek population: rheumatoid arthritis and FMF patients relative to normal controls. Homogeneous distribution and low incidence of AA amyloidosis
Mavragani CP, et al.
Amyloid 2007 Dec;14(4):271-5

The COL12A1 and COL14A1 Genes and Achilles Tendon Injuries
September AV, et al.
Int J Sports Med 2007 Oct

[Association of 86 bp variable number tandem repeat polymorphism of interleukin-1 receptor antagonist gene with lumbar disc disease
Ye W, et al.
Nan Fang Yi Ke Da Xue Xue Bao 2007 Oct;27(10):1485-8

Methylenetetrahydrofolate reductase and reduced folate carrier-1 genotypes and methotrexate serum concentrations in patients with rheumatoid arthritis
Fukino K, et al.
J Toxicol Sci 2007 Oct;32(4):449-52

Association and Expression Study of PRKCH Gene in a French Caucasian Population with Rheumatoid Arthritis
Teixeira VH, et al.
J Clin Immunol 2007 Oct

Association of aromatase and estrogen receptor gene polymorphisms with hip fractures
Valero C, et al.
Osteoporos Int 2007 Oct

 

Injury and Poisoning

Association Between delta-Aminolevulinic Acid Dehydratase (ALAD) Polymorphism and Blood Lead Levels: A Meta-regression Analysis
Zhao Y, et al.
J Toxicol Environ Health A 2007 Dec;70(23):1986-

 

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Page last reviewed: November 1, 2007 (archived document)
Content Source: National Office of Public Health Genomics
  Last Updated February 20, 2008