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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
March 1, 2007
Volume 18, No. 9

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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

Frequency of single nucleotide polymorphisms of CYP2D6 in the Czech population
Buzkova H, et al.
Cell Biochem Funct 2007 Feb

Prevalence of CARD15/NOD2 Mutations in Caucasian Healthy People
Hugot JP, et al.
Am J Gastroenterol 2007 Feb

Population genetic data on four STR loci, PAI (CA)(n), GpIIIa (CT)(n), PLAT (TG)(14) (CA)(12), and NOS2A (CCTTT)(n), in Mediterranean populations
Falchi A, et al.
Leg Med (Tokyo) 2007 Feb

Molecular polymorphism of o alleles in the chinese han population
Yang BC, et al.
Ann Clin Lab Sci 2007 Winter;37(1):71-4

 

Infectious and Parasitic Diseases

A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis
Khor CC, et al.
Nat Genet 2007 Feb

 

Neoplasms

EGFR, ERBB2, and KRAS mutations in Korean non-small cell lung cancer patients
Bae NC, et al.
Cancer Genet Cytogenet 2007 Mar;173(2):107-13

Effects of HLA Allele and Killer Immunoglobulin-Like Receptor Ligand Matching on Clinical Outcome in Leukemia Patients Undergoing Transplantation With T-cell-Replete Marrow From an Unrelated Donor
Morishima Y, et al.
Biol Blood Marrow Transplant 2007 Mar;13(3):315-28

Association of Variant ABCG2 and the Pharmacokinetics of Epidermal Growth factor Receptor Tyrosine Kinase Inhibitors in Cancer Patients
Li J, et al.
Cancer Biol Ther 2007 Mar;6(3)

HPV16 E6 variants and HLA class II polymorphism among Chinese women with cervical cancer
Wu Y, et al.
J Med Virol 2007 Feb;79(4):439-46

DNMT3b 39179GT Polymorphism and the Risk of Adenocarcinoma of the Colon in Koreans
Hong YS, et al.
Biochem Genet 2007 Feb

Association of human leukocyte antigen ancestral haplotype 8.1 with adverse outcome of non-Hodgkin's lymphoma
Nowak J, et al.
Genes Chromosomes Cancer 2007 Feb

Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene
Kataoka N, et al.
Cancer 2007 Feb

Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer
Moore LE, et al.
Int J Cancer 2007 Feb

Large-scale evaluation of candidate genes identifies associations between VEGF polymorphisms and bladder cancer risk
Garcia-Closas M, et al.
PLoS Genet 2007 Feb;3(2):e29

Absence of the common Insulin-like growth factor-1 19-repeat allele is associated with early age at breast cancer diagnosis in multiparous women
Bageman E, et al.
Br J Cancer 2007 Feb

Common variants in genes that mediate immunity and risk of multiple myeloma
Brown EE, et al.
Int J Cancer 2007 Feb

The collagenase-1 (MMP-1) gene promoter polymorphism - 1607/2G is associated with favourable prognosis in patients with colorectal cancer
Hettiaratchi A, et al.
Br J Cancer 2007 Feb

Shorter CAG repeat length in the AR gene is associated with poor outcome in head and neck cancer
Rosa FE, et al.
Arch Oral Biol 2007 Feb

Epidermal growth factor 61 A/G polymorphism and uterine cervical cancer
Kang S, et al.
Int J Gynecol Cancer 2007 Feb

Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: A population-based case-control study and meta-analyses
Lissowska J, et al.
Int J Cancer 2007 Feb

The C19007T Polymorphism of ERCC1 and Its Correlation with the Risk of Epithelial Ovarian and Endometrial Cancer in Korean Women. A Case Control Study
Jo H, et al.
Gynecol Obstet Invest 2007 Feb;64(2):84-8

RET Proto-Oncogene in Sardinia: V804M Is the Most Frequent Mutation and May Be Associated with FMTC/MEN-2A Phenotype
Pinna G, et al.
Thyroid 2007 Feb;17(2):101-4

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
Lagerstedt Robinson K, et al.
J Natl Cancer Inst 2007 Feb;99(4):291-9

The DNA repair gene XRCC1 and genetic susceptibility of lung cancer in a northeastern Chinese population
Yin J, et al.
Lung Cancer 2007 Feb

Association of p53 polymorphisms with breast cancer: a case-control study in Slovak population
Franekova M, et al.
Neoplasma 2007;54(2):155-61

 

Endocrine, Nutritional and Metabolic Diseases

Is the effect of testosterone on body composition modulated by the androgen receptor gene CAG repeat polymorphism in elderly men?
Lapauw B, et al.
Eur J Endocrinol 2007 Mar;156(3):395-401

Gene variants of monocyte chemoattractant protein 1 and components of metabolic syndrome in KORA S4, Augsburg
Sedlmeier EM, et al.
Eur J Endocrinol 2007 Mar;156(3):377-85

Genetic variants in PCSK9 in the Japanese population: Rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population
Miyake Y, et al.
Atherosclerosis 2007 Feb

HLA, NFKB1 and NFKBIA Gene Polymorphism Profile in Autoimmune Diabetes Mellitus Patients
Katarina K, et al.
Exp Clin Endocrinol Diabetes 2007 Feb;115(2):124-9

Transcription Factor 7-like 2 (TCF7L2) is Associated with Gestational Diabetes and Interacts with Adiposity to Alter Insulin Secretion in Mexican Americans
Watanabe RM, et al.
Diabetes 2007 Feb

TCF7L2-gene polymorphisms confer an increased risk for early impairment of glucose metabolism and increased height in obese children
Korner A, et al.
J Clin Endocrinol Metab 2007 Feb

IL-10 Genotype Analysis in Patients with Behcet's Disease
Wallace GR, et al.
Hum Immunol 2007 Feb;68(2):122-7

 

Mental Disorders

Dopamine Transporter Gene (DAT1) Associated with Appetite Suppression to Methylphenidate in a Case-Control Study of Binge Eating Disorder
Davis C, et al.
Neuropsychopharmacology 2007 Feb

Association of the serotonin transporter promotor polymorphism with suicide attempters with a high medical damage
Wasserman D, et al.
Eur Neuropsychopharmacol 2007 Feb;17(3):230-3

Serotonin transporter gene polymorphism modulates psychic maladaptation in relatives of patients with endogenic psychoses
Zh Nevrol Psikhiatr Im S S Korsakova 2007;107(1):46-51

 

Diseases of the Nervous System and Sense Organs

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia
Anthoni H, et al.
Hum Mol Genet 2007 Feb

Fine scale Linkage Disequilibrium mapping of Age Related Macular Degeneration in the Complement Factor H gene region
Ennis S, et al.
Br J Ophthalmol 2007 Feb

Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants
Grupe A, et al.
Hum Mol Genet 2007 Feb

Matrix metalloproteinase 3 haplotypes and dementia and Alzheimer's disease The Rotterdam Study
Reitz C, et al.
Neurobiol Aging 2007 Feb

Leucine-Rich Repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population
Funayama M, et al.
Neuroreport 2007 Feb;18(3):273-5

An association between the FABP2 gene polymorphism and efficacy of valproates
Zh Nevrol Psikhiatr Im S S Korsakova 2007;107(1):42-5

 

Diseases of the Circulatory System

No Association of Pro12Ala Polymorphism of PPAR-gamma Gene With Coronary Artery Disease in Korean Subjects
Rhee EJ, et al.
Circ J 2007 Mar;71(3):338-42

Candidate Genetic Risk Factors of Stroke: Results of a Multilocus Genotyping Assay
Lalouschek W, et al.
Clin Chem 2007 Feb

Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study
Lu X, et al.
Hum Genet 2007 Feb

Non-effect of p22-phox -930A/G polymorphism on end-organ damage in Brazilian hypertensive patients
Sales ML, et al.
J Hum Hypertens 2007 Feb

Association of Apolipoprotein E {varepsilon}2 With White Matter Disease but Not With Microbleeds
Lemmens R, et al.
Stroke 2007 Feb

 

Diseases of the Respiratory System

Cytokine Gene Polymorphisms in Italian Preterm Infants: Association Between Interleukin-10 -1082 G/A Polymorphism and Respiratory Distress Syndrome
Capasso M, et al.
Pediatr Res 2007 Mar;61(3):313-7

Identification of polymorphisms in human interleukin-27 and their association with asthma in a Korean population
Chae SC, et al.
J Hum Genet 2007 Feb

IL-13 genetic polymorphism identifies children with late wheezing after respiratory syncytial virus infection
Ermers MJ, et al.
J Allergy Clin Immunol 2007 Feb

Interleukin-10 promoter polymorphism as risk factor to develop invasive pulmonary aspergillosis
Sainz J, et al.
Immunol Lett 2007 Feb

Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis
Vaid M, et al.
Clin Chem Lab Med 2007;45(2):183-6

 

Diseases of the Digestive System

Polymorphisms in the methylenetetrahydrofolate reductase gene are determinant for vascular complications after liver transplantation
Akoglu B, et al.
Eur J Clin Nutr 2007 Feb

 

Diseases of the Genitourinary System

Heat Shock Protein 72 (HSPA1B) Gene Polymorphism and Toll-Like Receptor (TLR) 4 Mutation Are Associated with Increased Risk of Urinary Tract Infection in Children
Karoly E, et al.
Pediatr Res 2007 Mar;61(3):371-4

Molecular Study of (TG)m(T)n Polymorphism in Iranian Males with Congenital Bilateral Absence of the Vas Deferens
Radpour R, et al.
J Androl 2007 Feb

Association of interleukin-1{beta} and interleukin-1 receptor antagonist polymorphisms with bacterial vaginosis in non-pregnant Italian women
Cauci S, et al.
Mol Hum Reprod 2007 Feb

Resequencing of genes for transforming growth factorB1 (TGFB1), type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy
McKnight AJ, et al.
BMC Med Genet 2007 Feb;8(1):5

 

Complications of Pregnancy, Childbirth, and the Puerperium

The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension
Bernard N, et al.
J Hum Genet 2007 Mar;52(3):244-54

Mannose-binding lectin (MBL) codon 54 gene polymorphism protects against development of pre-eclampsia, HELLP syndrome and pre-eclampsia-associated intrauterine growth restriction
Sziller I, et al.
Mol Hum Reprod 2007 Feb

Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome
Mutze S, et al.
J Perinat Med 2007;35(1):76-8

 

Diseases of the Skin and Subcutaneous Tissue

A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1
Zhou HL, et al.
J Eur Acad Dermatol Venereol 2007 Mar;21(3):351-5

Psoriasis vulgaris and human leukocyte antigens
Cassia F, et al.
J Eur Acad Dermatol Venereol 2007 Mar;21(3):303-10

 

Diseases of the Musculoskeletal System and Connective Tissue

VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis
Butt C, et al.
BMC Musculoskelet Disord 2007;8:1

 

Certain Conditions Originating in the Perinatal Period

Are glutathione S-transferase gene polymorphisms linked to neonatal jaundice?
Muslu N, et al.
Eur J Pediatr 2007 Feb

 

Symptoms, Signs and Ill-defined Conditions

Determination of Phenotype Associated SNPs in the MC1R Gene
Branicki W, et al.
J Forensic Sci 2007 Mar;52(2):349-54

Toll like receptor 3 gene polymorphisms in Japanese patients with Stevens-Johnson syndrome
Ueta M, et al.
Br J Ophthalmol 2007 Feb

 

Injury and Poisoning

Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia
Pakakasama S, et al.
Ann Hematol 2007 Feb

Glutathione S-transferases M1 and T1 polymorphisms and arsenic content in hair and urine in two ethnic clans exposed to indoor combustion of high arsenic coal in Southwest Guizhou, China
Lin GF, et al.
Arch Toxicol 2007 Feb

 

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Page last reviewed: March 1, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics