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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 7, 2005
Volume 15, No. 1

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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

HLA genes in Portugal inferred from sequence-based typing: in the crossroad between Europe and Africa
Spinola H, et al.
Tissue Antigens 2005 Jul;66(1):26-36

Random survey for RHD alleles among D+ European persons
Chen Q & Flegel WA
Transfusion 2005 Jul;45(7):1183-91

Polymorphism of human leukocyte antigen-DRB1, -DQB1, and -DPB1 genes of Shandong Han population in China
Zhou L, et al.
Tissue Antigens 2005 Jul;66(1):37-43

Polymorphism of CTG-repeats in the DMPK gene in populations of Yakutia and central Asia
Mol Biol (Mosk) 2005 May-2005 Jun;39(3):385-93

Is the Ala12 variant of the PPARG gene an "unthrifty allele"?
Ruiz-Narvaez E
J Med Genet 2005 Jul;42(7):547-50

A novel CYP2A6*20 allele found in African-American population produces a truncated protein lacking enzymatic activity
Fukami T, et al.
Biochem Pharmacol 2005 Jun

 

Infectious and Parasitic Diseases

Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease
Jeong BH, et al.
Eur J Hum Genet 2005 Jun

Molecular and Clinical Epidemiology of CXCR4-Using HIV-1 in a Large Population of Antiretroviral-Naive Individuals
Brumme ZL, et al.
J Infect Dis 2005 Aug;192(3):466-74

Prevalence of HFE mutations and relation to serum iron status in patients with chronic hepatitis C and patients with nonalcoholic fatty liver disease in Taiwan
Lin TJ, et al.
World J Gastroenterol 2005 Jul;11(25):3905-8

Genetic association of paraoxonase-1 polymorphisms and chronic hepatitis C virus infection
Ferre N, et al.
Clin Chim Acta 2005 Jun

Association study of the Ile50Val polymorphism of interleukin-4 receptor gene (IL4RA) with chronic viral hepatitis
Mol Biol (Mosk) 2005 May-2005 Jun;39(3):379-84

 

Neoplasms

A case-control study of the HER2 Ile655Val polymorphism in relation to risk of invasive breast cancer
Nelson SE, et al.
Breast Cancer Res 2005;7(3):R357-64

The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women
Montgomery KG, et al.
Breast Cancer Res 2005;7(3):R353-6

Genotype of metabolic enzymes and the benefit of tamoxifen in postmenopausal breast cancer patients
Wegman P, et al.
Breast Cancer Res 2005;7(3):R284-90

Racial Differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of Early Onset Breast Cancer patients: African American compared to White Women
Haffty B, et al.
J Med Genet 2005 Jun

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers
Cullinane CA, et al.
Int J Cancer 2005 Jun

A case-only analysis of the interaction between N-acetyltransferase 2 haplotypes and tobacco smoke in breast cancer etiology
Lash TL, et al.
Breast Cancer Res 2005;7(3):R385-93

Risk of non-small cell lung cancer and the cytochrome P4501A1 Ile462Val polymorphism
Larsen JE, et al.
Cancer Causes Control 2005 Jun;16(5):579-85

CDX2 Polymorphisms, RNA Expression, and Risk of Colorectal Cancer
Rozek LS, et al.
Cancer Res 2005 Jul;65(13):5488-92

Androgen receptor Cytosine, adenine, Guanine repeats, and haplotypes in relation to ovarian cancer risk
Terry KL, et al.
Cancer Res 2005 Jul;65(13):5974-81

Polymorphism in the CD5 gene promoter in B-cell chronic lymphocytic leukemia and mantle cell lymphoma
Perez-Chacon G, et al.
Am J Clin Pathol 2005 May;123(5):646-50

Polymorphisms in the IGF-1 and IGFBP3 promoter and the risk of breast cancer
Wagner K, et al.
Breast Cancer Res Treat 2005 Jul;92(2):133-40

Low Allele Frequency of MLH1 D132H in American Colorectal and Endometrial Cancer Patients
Shin BY, et al.
Dis Colon Rectum 2005 Jun

Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis
Guran S, et al.
Cancer Genet Cytogenet 2005 Jul;160(2):164-8

Polymorphism of glutathione S-transferase Omega gene and risk of cancer
Marahatta SB, et al.
Cancer Lett 2005 Jun

Mutation analysis of the ATR gene in breast and ovarian cancer families
Heikkinen K, et al.
Breast Cancer Res 2005;7(4):R495-501

TP53-binding protein variants and breast cancer risk: a case-control study
Frank B, et al.
Breast Cancer Res 2005;7(4):R502-5

Genetic polymorphisms in the matrix metalloproteinase 12 gene (MMP12) and breast cancer risk and survival: the Shanghai Breast Cancer Study
Shin A, et al.
Breast Cancer Res 2005;7(4):R506-12

CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study
Chang JH, et al.
Breast Cancer Res 2005;7(4):R513-21

Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer1
Li D, et al.
Carcinogenesis 2005 Jun

Prognostic value of KIT mutation in gastrointestinal stromal tumors
Liu XH, et al.
World J Gastroenterol 2005 Jul;11(25):3948-52

Association of XRCC1 Arg399Gln and OGG1 Ser326Cys polymorphisms with the risk of cervical cancer in Japanese subjects
Niwa Y, et al.
Gynecol Oncol 2005 Jun

Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer
Nan HM, et al.
World J Gastroenterol 2005 Jul;11(25):3834-41

TP53BP2 locus is associated with gastric cancer susceptibility
Ju H, et al.
Int J Cancer 2005 Jun

Radiation-induced damage to normal tissues after radiotherapy in patients treated for gynecologic tumors: Association with single nucleotide polymorphisms in XRCC1, XRCC3, and OGG1 genes and in vitro chromosomal radiosensitivity in lymphocytes
De Ruyck K, et al.
Int J Radiat Oncol Biol Phys 2005 Jul;62(4):1140-9

CYP17 5'-UTR MspA1 polymorphism and the risk of premenopausal breast cancer in a German population-based case-control study
Verla-Tebit E, et al.
Breast Cancer Res 2005;7(4):R455-64

 

Endocrine, Nutritional and Metabolic Diseases

Evidence of an Association Between the Arg72 Allele of the Peptide YY and Increased Risk of Type 2 Diabetes
Torekov SS, et al.
Diabetes 2005 Jul;54(7):2261-5

Polymorphisms in the SLC2A2 (GLUT2) Gene Are Associated With the Conversion From Impaired Glucose Tolerance to Type 2 Diabetes: The Finnish Diabetes Prevention Study
Laukkanen O, et al.
Diabetes 2005 Jul;54(7):2256-60

Hepatic Lipase Gene Variant -514C>T Is Associated With Lipoprotein and Insulin Sensitivity Response to Regular Exercise: The HERITAGE Family Study
Teran-Garcia M, et al.
Diabetes 2005 Jul;54(7):2251-5

Association of two apolipoprotein A-I gene MspI polymorphisms with lipid and blood pressure levels
Ma YQ, et al.
Int J Cardiol 2005 Jul;102(2):309-14

Upstream transcription factor-1 gene polymorphism is associated with increased adipocyte lipolysis
Hoffstedt J, et al.
J Clin Endocrinol Metab 2005 Jun

Extracellular superoxide dismutase gene polymorphism is associated with insulin resistance and the susceptibility to type 2 diabetes
Tamai M, et al.
Diabetes Res Clin Pract 2005 Jun

Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the old order amish
Damcott CM, et al.
Diabetes 2005 Jul;54(7):2245-50

Effect of Hepatic Lipase -514C->T Polymorphism and Its Interactions With Apolipoprotein C3 -482C->T and Apolipoprotein E Exon 4 Polymorphisms on the Risk of Nephropathy in Chinese Type 2 Diabetic Patients
Baum L, et al.
Diabetes Care 2005 Jul;28(7):1704-9

Contribution of Selective HLA-DRB1/DQB1 Alleles and Haplotypes to the Genetic Susceptibility of Type 1 Diabetes Among Lebanese and Bahraini Arabs
Al-Jenaidi FA, et al.
J Clin Endocrinol Metab 2005 Jun

PTPN11 mutations are associated with mild GH resistance in individuals with Noonan syndrome
Binder G, et al.
J Clin Endocrinol Metab 2005 Jun

Impact of Common Polymorphisms in Candidate Genes for insulin resistance and obesity on Weight Loss of Morbidly Obese Subjects after Laparoscopic Adjustable Gastric Banding and hypocaloric diet
Sesti G, et al.
J Clin Endocrinol Metab 2005 Jun

Inverse effects of the PPARgamma2 Pro12Ala polymorphism on measures of adiposity over 15 years in African Americans and whites. The CARDIA study
Fornage M, et al.
Metabolism 2005 Jul;54(7):910-7

Serum glucose concentration and ACP1 genotype in healthy adult subjects
Iannaccone U, et al.
Metabolism 2005 Jul;54(7):891-4

Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism
Gomez-Llorente C, et al.
Ann Hematol 2005 Jun

Influence of Pro12Ala peroxisome proliferator-activated receptor gamma2 polymorphism on glucose response to exercise training in type 2 diabetes
Adamo KB, et al.
Diabetologia 2005 Jun

Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study
Lord SJ, et al.
Breast Cancer Res 2005;7(3):R336-44

Obese subjects carrying the 11482G>A polymorphism at the perilipin (PLIN) locus are resistant to weight loss following dietary energy restriction
Corella D, et al.
J Clin Endocrinol Metab 2005 Jun

Genotype-phenotype correlation for pulmonary function in cystic fibrosis
de Gracia J, et al.
Thorax 2005 Jul;60(7):558-63

Association of CETP TaqI and APOE polymorphisms with type II diabetes mellitus in North Indians: a case control study
Dixit M, et al.
BMC Endocr Disord 2005 Jul;5(1):7

Linkage Disequilibrium Between Human Leukocyte Antigen (HLA) Class II and HLA-G-Possible Implications for Human Reproduction and Autoimmune Disease
Hviid TV & Christiansen OB
Hum Immunol 2005 Jun;66(6):688-99

Association of HLA-DR and -DQ Genes with Graves Disease in Koreans
Park MH, et al.
Hum Immunol 2005 Jun;66(6):740-6

Distribution of paraoxonase PON1 gene polymorphisms in Mexican populations. Its role in the lipid profile
Gamboa R, et al.
Exp Mol Pathol 2005 Jul

Using the fluorescence spot test for neonatal screening of G6PD deficiency
Jiang J, et al.
Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:140-2

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
Dolz An V, et al.
Eur J Endocrinol 2005 Jul;153(1):99-106

Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program
Lanting CI, et al.
Pediatrics 2005 Jul;116(1):168-73

The correlation of paraoxonase (PON1) enzyme activities with plasma lipid and lipoprotein levels differs for subjects with and without vascular disease
Rozek LS, et al.
J Lipid Res 2005 Jul

Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample
Vizzi E, et al.
Ann Hematol 2005 Jul

 

Diseases of the Blood and Blood-Forming Organs Disorders

Polymorphisms of interleukin-1 gene complex, IL6 and tumour necrosis factor genes in chronic idiopathic neutropenia of adults
Addas-Carvalho M, et al.
Ann Hematol 2005 Jun

 

Mental Disorders

Association of the risk allele of dopamine transporter gene (DAT1*10) in Omani male children with attention-deficit hyperactivity disorder
Simsek M, et al.
Clin Biochem 2005 Jun

The Association Between the DRD2 TaqI A Polymorphism and Smoking Cessation in Response to Acupuncture in Koreans
Park HJ, et al.
J Altern Complement Med 2005 Jun;11(3):401-5

MLC1 Gene Is Associated with Schizophrenia and Bipolar Disorder in Southern India
Verma R, et al.
Biol Psychiatry 2005 Jul;58(1):16-22

Association of DNA Polymorphisms in the Synaptic Vesicular Amine Transporter Gene (SLC18A2) with Alcohol and Nicotine Dependence
Schwab SG, et al.
Neuropsychopharmacology 2005 Jun

No Association Between the Putative Functional ZDHHC8 Single Nucleotide Polymorphism rs175174 and Schizophrenia in Large European Samples
Glaser B, et al.
Biol Psychiatry 2005 Jul;58(1):78-80

Lack of association between single nucleotide polymorphisms in the corticotropin releasing hormone receptor 1 (CRHR1) gene and alcohol dependence
Dahl JP, et al.
J Psychiatr Res 2005 Sep;39(5):475-9

Association study of a novel functional polymorphism of the serotonin transporter gene in bipolar disorder and suicidal behaviour
De Luca V, et al.
Psychopharmacology (Berl) 2005 Jun:1-4

Sequence Analysis of the Serotonin Transporter and Associations with Antidepressant Response
Kraft JB, et al.
Biol Psychiatry 2005 Jul

Functional Polymorphism of the Glutathione Peroxidase 1 Gene Is Associated with Personality Traits in Healthy Subjects
Matsuzawa D, et al.
Neuropsychobiology 2005 Jun;52(2):68-70

Promoter Polymorphisms of the Interferon-alpha Receptor Gene and Development of Interferon-Induced Depressive Symptoms in Patients with Chronic Hepatitis C: Preliminary Findings
Yoshida K, et al.
Neuropsychobiology 2005 Jun;52(2):55-61

The polymorphic nature of the human dopamine D4 receptor gene: A comparative analysis of known variants and a novel 27 bp deletion in the promoter region
Szantai E, et al.
BMC Genet 2005 Jun;6(1):39

Positive association of AKT1 haplotype to Japanese methamphetamine use disorder
Ikeda M, et al.
Int J Neuropsychopharmacol 2005 Jun:1-5

 

Diseases of the Nervous System and Sense Organs

Association between glaucoma and gene polymorphism of endothelin type A receptor
Ishikawa K, et al.
Mol Vis 2005 Jun;11:431-7

The prion gene is associated with human long-term memory
Papassotiropoulos A, et al.
Hum Mol Genet 2005 Jun

Association Study of a Functional MAOA-uVNTR Gene Polymorphism and Cognitive Function in Healthy Females
Yu YW, et al.
Neuropsychobiology
2005 Jun;52(2):77-82

Positive Association of the Oxytocin Receptor Gene (OXTR) with Autism in the Chinese Han
Population
Wu S, et al.
Biol Psychiatry 2005 Jul;58(1):74-7

A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations
Zabetian CP, et al.

 

Diseases of the Circulatory System

1267 HSP70-2 polymorphism as a risk factor for carotid plaque rupture and cerebral ischaemia in old type 2 diabetes-atherosclerotic patients
Giacconi R, et al.
Mech Ageing Dev 2005 Aug;126(8):866-73

Beta-fibrinogen haplotypes and the risk for cardiovascular disease in a dialysis cohort
Liu Y, et al.
Am J Kidney Dis 2005 Jul;46(1):78-85

Association between C1019T polymorphism of connexin37 and acute myocardial infarction: a study in patients from Sicily
Listi F, et al.
Int J Cardiol 2005 Jul;102(2):269-71

Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction
Hruskovicova H, et al.
Med Sci Monit 2005 Jul;11(7):BR248-52

Genome-wide association study to identify SNPs conferring risk of myocardial infarction and their functional analyses
Ozaki K & Tanaka T
Cell Mol Life Sci 2005 Jun

PAI-1 and homocysteine, but not lipoprotein (a) nor thrombophilic polymorphism, are associated with the occurrence of major adverse cardiac events after successful coronary stenting
Marcucci R, et al.
Heart 2005 Jul

Polymorphism of the 3'-Untranslated Region of Interleukin-12 p40 Gene is not Associated With the Presence or Severity of Coronary Artery Disease
Momiyama Y, et al.
Circ J 2005 Jul;69(7):793-7

 

Diseases of the Respiratory System

The protease inhibitor PI*S allele and COPD: a meta-analysis
Dahl M, et al.
Eur Respir J 2005 Jul;26(1):67-76

Asthma severity and genetics in Taiwan
Huang JL
J Microbiol Immunol Infect 2005 Jun;38(3):158-63

Systematic Review and Meta-Analysis of the Association between {beta}2-Adrenoceptor Polymorphisms and Asthma: A HuGE Review
Thakkinstian A, et al.
Am J Epidemiol 2005 Jun

NRAMP1 is not associated with asthma, atopy, and serum immunoglobulin E levels in the French Canadian population
Poon AH, et al.
Genes Immun 2005 Jun

 

Diseases of the Digestive System

Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls
Weiss FU, et al.
Gut 2005 Jun

Influence of CARD15 Mutations on Disease Activity and Response to Therapy in 65 Pediatric Crohn Patients from Saxony, Germany
Roesler J, et al.
J Pediatr Gastroenterol Nutr 2005 Jul;41(1):27-32

Association of the Matrix Metalloproteinase-3 (MMP-3) Promoter Polymorphism With Celiac Disease in Male Subjects
Mora B, et al.
Hum Immunol 2005 Jun;66(6):715-9

TNF Promoter Polymorphisms and Modulation of Growth Retardation and Disease Severity in Pediatric Crohn's Disease
Levine A, et al.
Am J Gastroenterol 2005 Jul;100(7):1598-604

 

Diseases of the Genitourinary System

Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
Hassun PA Filho, et al.
Int Braz J Urol 2005 May-2005 Jun;31(3):236-44


Complications of Pregnancy, Childbirth, and the Puerperium

Influence of combined methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) polymorphisms to plasma homocysteine levels in Korean patients with recurrent spontaneous abortion
Kim NK, et al.
Thromb Res 2005 Jun

 

Diseases of the Skin and Subcutaneous Tissue

Association of NOD1 polymorphisms with atopic eczema and related phenotypes
Weidinger S, et al.
J Allergy Clin Immunol 2005 Jul;116(1):177-84

 

Diseases of the Musculoskeletal System and Connective Tissue

The COMT val158met Polymorphism Is Associated with Early Pubertal Development, Height and Cortical Bone Mass in Girls
Eriksson AL, et al.
Pediatr Res 2005 Jul;58(1):71-7

Catalase and PPARgamma2 genotype and risk of rheumatoid arthritis in Koreans
El-Sohemy A, et al.
Rheumatol Int 2005 Jun:1-5

Interleukin 12 (IL12B) and Interleukin 12 Receptor (IL12RB1) Gene Polymorphisms in Rheumatoid Arthritis
Orozco G, et al.
Hum Immunol 2005 Jun;66(6):710-4

Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits
Tilkeridis C, et al.
J Med Genet 2005 Jul;42(7):e44

The Guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with achilles tendon injuries
Mokone GG, et al.
Am J Sports Med 2005 Jul;33(7):1016-21

Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations
Van Oene M, et al.
Arthritis Rheum 2005 Jul;52(7):1993-8

 

Congenital Anomalies

Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population
Srichomthong C, et al.
J Med Genet 2005 Jul;42(7):e46

 

Symptoms, Signs, and Ill-defined Conditions

A Common Polymorphism in the CYP3A7 Gene is Associated With a Nearly 50a% Reduction in Serum DHEAS levels
Smit P, et al.
J Clin Endocrinol Metab 2005 Jun

Diabetes-associated HLA genotypes affect birthweight in the general population
Larsson HE, et al.
Diabetologia 2005 Jul

The Arg16/Gly {beta}2-adrenergic receptor polymorphism alters the cardiac output response to isometric exercise
Eisenach JH, et al.
J Appl Physiol 2005 Jun

 

Injury and Poisoning

DNA repair and cyclin D1 polymorphisms and styrene-induced genotoxicity and immunotoxicity
Kuricova M, et al.
Toxicol Appl Pharmacol 2005 Jun

 

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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