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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
August 23, 2007
Volume 19, No. 8

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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

Prevalence of factor V Leiden (G1691A) and prothrombin (G20210A) among Kurdish population from Western Iran
Rahimi Z, et al.
J Thromb Thrombolysis 2007 Aug

The prevalence of alpha(1)-antitrypsin deficiency in a representative population  sample from Poland
Kaczor MP, et al.
Respir Med 2007 Aug

 

Infectious and Parasitic Diseases

Effect of MDR1 C3435T polymorphism on cure rates of Helicobacter pylori infection by triple therapy with lansoprazole, amoxicillin and clarithromycin in relation to CYP 2C19 genotypes and 23S rRNA genotypes of H. pylori
Furuta T, et al.
Aliment Pharmacol Ther 2007 Sep;26(5):693-703

A CXCL2 polymorphism is associated with better outcomes in patients with severe sepsis*
Villar J, et al.
Crit Care Med 2007 Aug;Publish Ahead of Print

The Rate of Pyrin Mutations in Critically Ill Patients with Systemic Inflammatory Response Syndrome and Sepsis: A Pilot Study
Koc B, et al.
J Rheumatol 2007 Aug

4G4G genotype of the plasminogen activator inhibitor-1 promoter polymorphism associates with disseminated intravascular coagulation in children with systemic  meningococcemia
Binder A, et al.
J Thromb Haemost 2007 Aug

 

Neoplasms

Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas
Kim DW, et al.
Int J Colorectal Dis 2007 Oct;22(10):1173-8

Short tandem repeat polymorphism in exon 4 of esophageal cancer-related gene 2 detected in genomic DNA is a prognostic marker for esophageal cancer
Kaifi JT, et al.
Am J Surg 2007 Sep;194(3):380-4

The XRCC3 Thr241Met polymorphism and breast cancer risk: a case-control study in  a Thai population
Sangrajrang S, et al.
Biomarkers 2007 Sep-2007 Oct;12(5):523-32

Haplotype analysis of signal peptide (insertion/deletion) and XbaI polymorphisms  of the APOB gene in gallbladder cancer
Pandey SN, et al.
Liver Int 2007 Sep;27(7):1008-15

Interactions among GSTM1, GSTT1 and GSTP1 polymorphisms, cruciferous vegetable intake and breast cancer risk
Steck S, et al.
Carcinogenesis 2007 Aug

Single Nucleotide Polymorphisms at the TP53-Binding or Responsive Promoter Regions of BAX and BCL2 Genes and Risk of Squamous Cell Carcinoma of the Head and Neck
Chen K, et al.
Carcinogenesis 2007 Aug

Genetic polymorphisms in the Rb-binding zinc finger gene RIZ and the risk of lung cancer
Yoon KA, et al.
Carcinogenesis 2007 Aug

Effects of CYP2D6 polymorphisms on neuroleptic malignant syndrome
Kato D, et al.
Eur J Clin Pharmacol 2007 Aug

IL6 genotypes and colon and rectal cancer
Slattery ML, et al.
Cancer Causes Control 2007 Aug

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer
Margolin S, et al.
BMC Cancer 2007 Aug;7(1):163

Influence of UGT1A9 intronic I399C>T polymorphism on SN-38 glucuronidation in Asian cancer patients
Sandanaraj E, et al.
Pharmacogenomics J 2007 Aug

Combination of polymorphisms from genes related to estrogen metabolism and risk of prostate cancers: the hidden face of estrogens
Cussenot O, et al.
J Clin Oncol 2007 Aug;25(24):3596-602

Polymorphisms of the DNA gene XPD and risk of bladder cancer in a Southeastern Chinese population
Shao J, et al.
Cancer Genet Cytogenet 2007 Aug;177(1):30-6

FCGR2A and FCGR3A Polymorphisms Associated With Clinical Outcome of Epidermal Growth Factor Receptor Expressing Metastatic Colorectal Cancer Patients Treated With Single-Agent Cetuximab
Zhang W, et al.
J Clin Oncol 2007 Aug;25(24):3712-8

Association of methylenetetrahydrofolate reductase gene polymorphisms and sex-specific survival in patients with metastatic colon cancer
Zhang W, et al.
J Clin Oncol 2007 Aug;25(24):3726-31

Pharmacokinetics and pharmacodynamics of paclitaxel with carboplatin or gemcitabine, and effects of CYP3A5 and MDR1 polymorphisms in patients with urogenital cancers
Jiko M, et al.
Int J Clin Oncol 2007 Aug;12(4):284-90

Purinergic receptor P2Y, G-protein coupled, 12 gene variants and risk of incident ischemic stroke, myocardial infarction, and venous thromboembolism
Zee RY, et al.
Atherosclerosis 2007 Aug

Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of Northern Spain
Lopez-Cima MF, et al.
BMC Cancer 2007 Aug;7(1):162

GnRH and LHR gene variants predict adverse outcome in premenopausal breast cancer patients
Piersma D, et al.
Breast Cancer Res 2007 Aug;9(4):R51

Genetic polymorphisms of glutathione-S-transferase genes (GSTM1, GSTT1 and GSTP1) and upper aerodigestive tract cancer risk among smokers, tobacco chewers and alcoholics in an Indian population
Soya SS, et al.
Eur J Cancer 2007 Aug

The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia
Dore AI, et al.
J Leukoc Biol 2007 Aug

Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer
Agalliu I, et al.
Br J Cancer 2007 Aug

 

Endocrine, Nutritional and Metabolic Diseases

Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy
Arnedo M, et al.
Pharmacogenet Genomics 2007 Sep;17(9):755-64

The rs12255372(G/T) and rs7903146(C/T) polymorphisms of the TCF7L2 gene are associated with type 2 diabetes mellitus in Asian Indians
Bodhini D, et al.
Metabolism 2007 Sep;56(9):1174-8

Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure
Bretherick KL, et al.
Fertil Steril 2007 Aug

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 Aug

Polymorphisms of Apolipoprotein E and Methylenetetrahydrofolate Reductase in the  Japanese Population
Arai H, et al.
J Atheroscler Thromb 2007 Aug

HTR2C haplotypes and antipsychotics-induced weight gain: X-linked multimarker analysis
De Luca V, et al.
Hum Psychopharmacol 2007 Aug

The frequency of the G/G genotype of resistin single nucleotide polymorphism at -420 appears to be increased in younger onset type 2 diabetes
Ochi M, et al.
Diabetes 2007 Aug

ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study
Meyre D, et al.
Diabetologia 2007 Aug

The Pro12Ala polymorphism of the PPAR-gamma2 gene affects associations of fish intake and marine n-3 fatty acids with glucose metabolism
Ylonen SK, et al.
Eur J Clin Nutr 2007 Aug

Elevated concentrations of circulating vitamin E in carriers of the apolipoprotein A5 gene -1131T>C variant and associations with plasma lipids and lipid peroxidation
Sundl I, et al.
J Lipid Res 2007 Aug

Genetic Study of the Melanin-Concentrating Hormone Receptor 2 (MCHR2) in Childhood and Adulthood Severe Obesity
Ghoussaini M, et al.
J Clin Endocrinol Metab 2007 Aug

Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in  the Spanish population
Santiago JL, et al.
BMC Med Genet 2007 Aug;8(1):54

PPAR alpha L162V underlies variation in serum triglycerides and subcutaneous fat  volume in young males
Uthurralt J, et al.
BMC Med Genet 2007 Aug;8(1):55

Role of AMP-activated protein kinase gamma 3 genetic variability in glucose and lipid metabolism in non-diabetic whites
Weyrich P, et al.
Diabetologia 2007 Aug

Interaction between the UCP2-866G/A, mtDNA 10398G/A and PGC1alpha p.Thr394Thr and p.Gly482Ser polymorphisms in type 2 diabetes susceptibility in North Indian population
Rai E, et al.
Hum Genet 2007 Aug

Skin Testing Correlates Negatively with High-Activity ACP1 *B/*C Genotype
Greco E, et al.
Int Arch Allergy Immunol 2007 Aug;145(1):48-53

GPR54 Polymorphisms in Chinese Girls with Central Precocious Puberty
Luan X, et al.
Neuroendocrinology 2007 Aug

 

Diseases of the Blood & Blood-Forming Organ Disorders

 

 

Mental Disorders

No association between the DRD3 Ser9Gly polymorphism and schizophrenia
Fathalli F, et al.
Schizophr Res 2007 Aug

Association between the serotonin transporter gene and personality traits in borderline personality disorder patients evaluated with Zuckerman-Kuhlman Personality Questionnaire (ZKPQ)
Pascual J, et al.
Actas Esp Psiquiatr 2007 Aug

Short/long heterozygotes at 5HTTLPR and white matter lesions in geriatric depression
Steffens DC, et al.
Int J Geriatr Psychiatry 2007 Aug

Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis
Blaya C, et al.
Behav Brain Funct 2007 Aug;3(1):41

The tryptophan hydroxylase (TPH) 2 gene unlike TPH-1 exhibits no association with stress-induced depression
Gizatullin R, et al.
J Affect Disord 2007 Aug

Association of a dopamine beta-hydroxylase gene variant with depression in elderly women possibly reflecting noradrenergic dysfunction
Togsverd M, et al.
J Affect Disord 2007 Aug

 

Diseases of the Nervous System and Sense Organs

Paraoxonase promoter and intronic variants modify risk of sporadic amyotrophic lateral sclerosis
Cronin S, et al.
J Neurol Neurosurg Psychiatry 2007 Sep;78(9):984-6

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese
Wu YR, et al.
J Neurol Neurosurg Psychiatry 2007 Sep;78(9):977-9

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil
Spitz M, et al.
Parkinsonism Relat Disord 2007 Aug


A promoter polymorphism in the monoamine oxidase A gene is associated with the pineal MAOA activity in Alzheimer's disease patients
Wu YH, et al.
Brain Res 2007 Aug

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
Heron SE, et al.
Ann Neurol 2007 Aug

LOC387715/HTRA1 Variants in Polypoidal Choroidal Vasculopathy and Age-related Macular Degeneration in a Japanese Population
Kondo N, et al.
Am J Ophthalmol 2007 Aug

Homozygosity for the K variant of BCHE gene increases the risk for development of neurofibrillary pathology but not amyloid deposits at young ages
Ghebremedhin E, et al.
Acta Neuropathol (Berl) 2007 Aug

Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk
Rodriguez-Rodriguez E, et al.
Neurobiol Aging 2007 Aug

Genetic Variation in Catechol-O-Methyltransferase: Effects on Working Memory in Schizophrenic Patients, Their Siblings, and Healthy Controls
Diaz-Asper CM, et al.
Biol Psychiatry 2007 Aug

 

Diseases of the Circulatory System

Genetic polymorphism in the pregnancy-associated plasma protein-A associated with acute myocardial infarction
Park S, et al.
Coron Artery Dis 2007 Sep;18(6):417-22

Polymorphisms and Haplotypes of the Estrogen Receptor-{beta} Gene (ESR2) and Cardiovascular Disease in Men and Women
Rexrode KM, et al.
Clin Chem 2007 Aug

An Interactive Association of Common Sequence Variants in the Neuropeptide Y Gene With Susceptibility to Ischemic Stroke
Lee C & Kong M
Stroke 2007 Aug

Usefulness of Combining Complement Factor H and C-Reactive Protein Genetic Profiles for Predicting Myocardial Infarction (from the Rotterdam Study)
Kardys I, et al.
Am J Cardiol 2007 Aug;100(4):646-8

Role of the c-344t aldosterone synthase gene variant in left ventricular mass and left ventricular structure-related phenotypes
Sookoian S, et al.
Heart 2007 Aug

The MTHFR 677 C/T polymorphism influences plasma levels of adhesion molecules and nitric oxide
Juo SH, et al.
Thromb Res 2007 Aug

A close relationship between functional polymorphism in the promoter region of matrix metalloproteinase-9 and acute myocardial infarction
Koh YS, et al.
Int J Cardiol 2007 Aug

Polymorphisms of KDR gene are associated with coronary heart disease
Wang Y, et al.
J Am Coll Cardiol 2007 Aug;50(8):760-7

Selective Genotyping Reveals Association Between the Epithelial Sodium Channel {gamma}-Subunit and Systolic Blood Pressure
Busst CJ, et al.
Hypertension 2007 Aug

 

Diseases of the Respiratory System

Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes
Janssen R, et al.
J Infect Dis 2007 Sep;196(6):826-34

Association Analysis of Tyrosine Kinase FYN Gene Polymorphisms in Asthmatic Children
Szczepankiewicz A, et al.
Int Arch Allergy Immunol 2007 Aug;145(1):43-7

Comprehensive Testing of Positionally Cloned Asthma Genes in Two Populations
Hersh CP, et al.
Am J Respir Crit Care Med 2007 Aug

 

Diseases of the Digestive System

Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease
Schafmayer C, et al.
Liver Int 2007 Sep;27(7):910-9

Meta-analysis: inosine triphosphate pyrophosphatase polymorphisms and thiopurine  toxicity in the treatment of inflammatory bowel disease
VAN Dieren JM, et al.
Aliment Pharmacol Ther 2007 Sep;26(5):643-52

Common genetic variations in CLOCK transcription factor are associated with nonalcoholic fatty liver disease
Sookoian S, et al.
World J Gastroenterol 2007 Aug;13(31):4242-8

Gender-stratified analysis of DLG5 R30Q in 4707 Crohn's disease patients and 4973 controls from 12 Caucasian cohorts
Browning BL, et al.
J Med Genet 2007 Aug

 

Diseases of the Genitourinary System

Lack of association between thrombosis-associated and cytokine candidate gene polymorphisms and acute rejection or vascular complications after kidney transplantation
Alakulppi NS, et al.
Nephrol Dial Transplant 2007 Aug

Association of Transforming Growth Factor-beta1 Gene Polymorphism With Familial Vesicoureteral Reflux
Kuroda S, et al.
J Urol 2007 Aug

Pharmacogenomic associations in ABCB1 and CYP3A5 with acute kidney injury and chronic kidney disease after myeloablative hematopoietic cell transplantation
Woodahl EL, et al.
Pharmacogenomics J 2007 Aug

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of PTPN22 with Rheumatoid Arthritis Among South Asians in the UK
Mastana S, et al.
J Rheumatol 2007 Aug

Loss-of-function mutations in the Filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis
Huffmeier U, et al.
Ann Rheum Dis 2007 Aug

The additive effect of individual genes in predicting risk of knee osteoarthritis
Valdes AM, et al.
Ann Rheum Dis 2007 Aug

Association between myostatin gene polymorphisms and peak BMD variation in Chinese nuclear families
Zhang ZL, et al.
Osteoporos Int 2007 Aug

Promoter polymorphisms of the vascular endothelial growth factor gene is associated with an osteonecrosis of the femoral head in the Korean population
Kim TH, et al.
Osteoarthritis Cartilage 2007 Aug

-463 G/A myeloperoxidase promoter polymorphism in giant cell arteritis
Salvarani C, et al.
Ann Rheum Dis 2007 Aug

 

Congenital Anomalies

Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children
Coppede F, et al.
Am J Med Genet A 2007 Aug;143A(17):2006-15

 

Certain Conditions Originating in the Perinatal Period

Association between small for gestational age and paternally inherited 5' insulin haplotypes
Adkins RM, et al.
Int J Obes (Lond) 2007 Aug

 

Injury and Poisoning

Haplotypes of vitamin D receptor modulate the circulating levels of lead in exposed subjects
Rezende VB, et al.
Arch Toxicol 2007 Aug

Apolipoprotein E Genotype and Response of Carbon Monoxide Poisoning to Hyperbaric Oxygen Treatment
Hopkins RO, et al.
Am J Respir Crit Care Med 2007 Aug

 

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Page last reviewed: August 23, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics