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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
September 21, 2006
Volume 17, No. 12

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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

Polymorphisms of hsp 60 gene in Chinese Han people
Wang J, et al.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2006 Aug;24(8):471-4

Allele frequency distributions of Apo B VNTR locus in Cukurova, Turkey
Yalin E, et al.
Cell Biochem Funct 2006 Sep

Distribution of the FcgammaRIIIa 176 F/V polymorphism amongst healthy Chinese, Malays and Asian Indians in Singapore
Chong KT, et al.
Br J Clin Pharmacol 2006 Sep

Population genetic data on D1S80, D17S5, ApoB, COL2A1 and Ig-JH in Northeastern Thais
Ruangjirachuporn W, et al.
Leg Med (Tokyo) 2006 Sep

Polymorphism study of seven SNPs at ADH genes in 15 Chinese populations
Ma L, et al.
Hereditas 2005 Feb;142(2005):103-11

 

Infectious and Parasitic Diseases

TNFA-308A and TNFA-238A do not increase the risk of severe malaria in children with P. falciparum infection in Mali
Cabantous S, et al.
Infect Immun 2006 Sep

           

 

Neoplasms

Single-nucleotide polymorphisms in base excision repair, nucleotide excision repair, and double strand break genes as markers for response to radiotherapy in patients with Stage I to II head-and-neck cancer
Carles J, et al.
Int J Radiat Oncol Biol Phys 2006 Sep

Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk
Nieters A, et al.
Genes Immun 2006 Sep

Association of moderate alpha-1 antitrypsin deficiency with lung cancer in the serbian population
Topic AS, et al.
Arch Med Res 2006 Oct;37(7):866-70

Association of genetic polymorphisms in the base excision repair pathway with lung cancer risk: A meta-analysis
Kiyohara C, et al.
Lung Cancer 2006 Sep

MDM2 Promoter Polymorphism Is Associated With Both an Increased Susceptibility to Gastric Carcinoma and Poor Prognosis
Ohmiya N, et al.
J Clin Oncol 2006 Sep;24(27):4434-40

Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma
Kanetsky PA, et al.
Cancer Res 2006 Sep;66(18):9330-7

Functional Variant in the 3'-untranslated Region of Toll-Like Receptor 4 is Associated with Nasopharyngeal Carcinoma Risk
Song C, et al.
Cancer Biol Ther 2006 Oct;5(10)

Breast cancer risk and polymorphisms in genes involved in metabolism of estrogens (CYP17, HSD17beta1, COMT and MnSOD): Possible protective role of MnSOD gene polymorphism Val/Ala and Ala/Ala in women that never breast fed
Silva SN, et al.
Oncol Rep 2006 Oct;16(4):781-8

GGN repeat length and GGN/CAG haplotype variations in the androgen receptor gene and prostate cancer risk in south Indian men
Vijayalakshmi K, et al.
J Hum Genet 2006 Sep

Implications of Gene-Environment Interaction in Studies of Gene Variants in Breast Cancer: An Example of Dietary Isoflavones and the D356N Polymorphism in the Sex Hormone-Binding Globulin Gene
Low YL, et al.
Cancer Res 2006 Sep;66(18):8980-3

 

Endocrine, Nutritional and Metabolic Diseases

A Differential Association of Interferon-gamma High-Producing Allele T and Low-Producing Allele A (+874 A/T) with Hashimoto's Thyroiditis and Graves' Disease
Rekha PL, et al.
Scand J Immunol 2006 Oct;64(4):438-43

Leptin Receptor Lys656Asn Polymorphism Is Associated with Decreased Leptin Response and Weight Loss Secondary to a Lifestyle Modification in Obese Patients
de Luis Roman D, et al.
Arch Med Res 2006 Oct;37(7):854-9

A novel polymorphism in the 17beta-hydroxysteroid dehydrogenase type 5 (aldo-keto reductase 1C3) gene is associated with lower serum testosterone levels in caucasian men
Jakobsson J, et al.
Pharmacogenomics J 2006 Sep

ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children
Bottcher Y, et al.
J Clin Endocrinol Metab 2006 Sep

The Insertion/Deletion Polymorphism in the Angiotensin-converting Enzyme Gene and Hypoglycemia Awareness in Patients with Type 1 Diabetes
Holstein A, et al.
Horm Metab Res 2006 Sep;38(9):603-6

The -374 T/A polymorphism in the gene encoding RAGE is associated with diabetic nephropathy and retinopathy in type 1 diabetic patients
Lindholm E, et al.
Diabetologia 2006 Sep

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients
Rozenberg R, et al.
Braz J Med Biol Res 2006 Sep;39(9):1171-9

Genetic influences of the intercellular adhesion molecule 1 (ICAM-1) gene polymorphisms in development of Type 1 diabetes and diabetic nephropathy
Ma J, et al.
Diabet Med 2006 Oct;23(10):1093-9

Linkage and Association Between CA Repeat Polymorphism of the TNFR2 Gene and Obesity Phenotypes in Two Independent Caucasian Populations
Huang QY, et al.
Yi Chuan Xue Bao 2006 Sep;33(9):775-81

Sequencing analysis of ghrelin gene 5' flanking region: relations between the sequence variants, fasting plasma total ghrelin concentrations, and body mass index
Vartiainen J, et al.
Metabolism 2006 Oct;55(10):1420-5

The Gly482Ser variant of the PPARGC1 gene is associated with Type 2 diabetes mellitus in northern Chinese, especially men
Sun L, et al.
Diabet Med 2006 Oct;23(10):1085-92

Relationship between polymorphisms 804C/A and 252A/G of lymphotoxin-alpha gene and -308G/A of tumor necrosis factor alpha gene and diabetic retinopathy in Japanese patients with type 2 diabetes mellitus
Yoshioka K, et al.
Metabolism 2006 Oct;55(10):1406-10

Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes
Wegner L, et al.
Diabet Med 2006 Oct;23(10):1140-4

 

Mental Disorders

Genetic susceptibility to Tardive Dyskinesia in chronic schizophrenia subjects: V. Association of CYP1A2 1545 C>T polymorphism
Tiwari AK, et al.
Pharmacogenomics J 2006 Sep

Norepinephrine transporter polymorphisms in Tourette syndrome with and without attention deficit hyperactivity disorder: no evidence for significant association
Rippel CA, et al.
Psychiatr Genet 2006 Oct;16(5):179-80

Catechol-O-methyltransferase gene variants in mood disorders in the Italian population
Serretti A, et al.
Psychiatr Genet 2006 Oct;16(5):181-2

No association between genetic variants at the GRIN1 gene and bipolar disorder in a German sample
Georgi A, et al.
Psychiatr Genet 2006 Oct;16(5):183-4

Association study of adenosine A2a receptor (1976C>T) genetic polymorphism and mood disorders and age of onset
Tsai SJ, et al.
Psychiatr Genet 2006 Oct;16(5):185

Serotonin transporter gene promoter (5-HTTLPR) and intron 2 (VNTR) polymorphisms: a study on Slovenian population of suicide victims
Pungercic G, et al.
Psychiatr Genet 2006 Oct;16(5):187-91

No association between polymorphisms in the prostate apoptosis factor-4 gene and cocaine dependence
Weller AE, et al.
Psychiatr Genet 2006 Oct;16(5):193-6

No evidence for association between NOTCH4 and schizophrenia in a large family-based and case-control association analysis
Ivo R, et al.
Psychiatr Genet 2006 Oct;16(5):197-203

Association of catecholamine-O-methyltransferase and 5-HTTLPR genotype with eating disorder-related behavior and attitudes in females with eating disorders
Frieling H, et al.
Psychiatr Genet 2006 Oct;16(5):205-8

No association of the C677T methylenetetrahydrofolate reductase polymorphism with schizophrenia
Philibert R, et al.
Psychiatr Genet 2006 Oct;16(5):221-3

No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population
Van Den Bogaert A, et al.
Psychiatr Genet 2006 Oct;16(5):209-12

Meta-analysis supports association between serotonin transporter (5-HTT) and suicidal behavior
Li D & He L
Mol Psychiatry 2006 Sep

The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction
Flanagan JM, et al.
Hum Genet 2006 Sep

Perceived parenting behavior in the childhood of cocaine users: Relationship with genotype and personality traits
Gerra G, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Sep

Case-control and within-family tests for an association between conduct disorder and 5HTTLPR
Sakai JT, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Sep

Association between the C957T polymorphism of the dopamine D2 receptor gene and schizophrenia
Hanninen K, et al.
Neurosci Lett 2006 Sep

No association between the CNTF null mutation and schizophrenia or personality
Nishiyama J, et al.
Psychiatr Genet 2006 Oct;16(5):217-9

Partial evidence of an association between epidermal growth factor A61G polymorphism and age at onset in male schizophrenia
Lee KY, et al.
Neurosci Res 2006 Sep

Association between the tryptophan hydroxylase-1 gene A218C polymorphism and citalopram antidepressant response in a Korean population
Ham BJ, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Sep

           

 

Diseases of the Nervous System and Sense Organs

Deletion/Insertion polymorphism of the Angiotensin-converting enzyme gene and white matter hyperintensities in dementia: a pilot study
Purandare N, et al.
J Am Geriatr Soc 2006 Sep;54(9):1395-400

Glutathione S-transferase M1 and T1 genetic polymorphisms are related to the risk of primary open angle glaucoma (POAG): a study in the Turkish population
Unal M, et al.
Br J Ophthalmol 2006 Sep

Differential CSF butyrylcholinesterase levels in Alzheimer's disease patients with the ApoE epsilon4 allele, in relation to cognitive function and cerebral glucose metabolism
Darreh-Shori T, et al.
Neurobiol Dis 2006 Sep

The impact of APOE gene polymorphisms and haplotypes on behavioural and psychological symptoms in Alzheimer's disease
Pritchard AL, et al.
J Neurol Neurosurg Psychiatry 2006 Sep

Neither sequence variation in the IL-10 gene promoter nor presence of IL-10 protein in the cerebral cortex is associated with Alzheimer's disease
Culpan D, et al.
Neurosci Lett 2006 Sep

No association between synapsin III gene promoter polymorphisms and multiple sclerosis in German patients
Akkad DA, et al.
J Neurol 2006 Sep

PPARD haplotype influences cholesterol metabolism but is no risk factor of Alzheimer's disease
Holzapfel J, et al.
Neurosci Lett 2006 Sep

The high-activity Val allele of the catechol-O-methyltransferase gene predicts greater cognitive deterioration in patients with psychosis
Mata I, et al.
Psychiatr Genet 2006 Oct;16(5):213-6

NR4A2 genetic variation in sporadic Parkinson's disease: A genewide approach
Healy DG, et al.
Mov Disord 2006 Sep

Association of Insulin-Like Growth Factor-1 Receptor Polymorphism in Dementia
Garcia J, et al.
Dement Geriatr Cogn Disord 2006 Sep;22(5-6):439-44

Association of adenosine deaminase polymorphism with mild mental retardation
Saccucci P, et al.
J Child Neurol 2006 Sep;21(9):753-6

 

Diseases of the Circulatory System

Aldosterone synthase promoter polymorphism predicts outcome in African Americans with heart failure: results from the A-HeFT Trial
McNamara DM, et al.
J Am Coll Cardiol 2006 Sep;48(6):1277-82

The T(-786)C endothelial nitric oxide synthase genotype predicts cardiovascular mortality in high-risk patients
Rossi GP, et al.
J Am Coll Cardiol 2006 Sep;48(6):1166-74

Extensive Genetic Analysis of 10 Candidate Genes for Hypertension in Japanese
Iwai N, et al.
Hypertension 2006 Sep

Insertion/Deletion Polymorphism on ACE Gene is Associated with Endothelial Dysfunction in Young Patients with Hypertension
Penesova A, et al.
Horm Metab Res 2006 Sep;38(9):592-7

Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension
Nakayama T, et al.
Hypertension 2006 Sep;48(3):512-8

Endothelial nitric oxide synthase polymorphisms do not influence pulmonary artery systolic pressure at altitude
Smith EM, et al.
High Alt Med Biol 2006 Fall;7(3):221-7

The Alanine/Threonine Polymorphism of the Alpha-1-Antichymotrypsin (SERPINA3) Gene and Ruptured Intracranial Aneurysms in the Japanese Population
Krischek B, et al.
Cerebrovasc Dis 2006 Sep;23(1):46-9

Prothrombin 19911 A>G polymorphism and the risk of venous thromboembolism
Martinelli I, et al.
J Thromb Haemost 2006 Sep

The differential effects of age on the association of KLOTHO gene polymorphisms with coronary artery disease
Rhee EJ, et al.
Metabolism 2006 Oct;55(10):1344-51

HFE mutations and risk of coronary heart disease in middle-aged women
van der A DL, et al.
Eur J Clin Invest 2006 Oct;36(10):682-90

Conjugated Equine Estrogen, Esterified Estrogen, Prothrombotic Variants, and the Risk of Venous Thrombosis in Postmenopausal Women
Smith NL, et al.
Arterioscler Thromb Vasc Biol 2006 Sep

IL-1RN intron 2 VNTR polymorphism is significantly associated with 1-year outcome in ischemic stroke
Gromadzka G, et al.
J Neurol Neurosurg Psychiatry 2006 Sep

Effects of arsenic exposure and genetic polymorphisms of p53, glutathione S-transferase M1, T1, and P1 on the risk of carotid atherosclerosis in Taiwan
Wang YH, et al.
Atherosclerosis 2006 Sep

 

Diseases of the Respiratory System

Tumour necrosis factor and lymphotoxin A polymorphisms and lung function in smokers
Tanaka G, et al.
Eur Respir J 2006 Sep

IL18 and IL18R1 polymorphisms, lung HRCT and fibrosis: a longitudinal study in coal miners
Nadif R, et al.
Eur Respir J 2006 Sep

The Association Between Polymorphic Genotypes of Glutathione S-Transferases and COPD in the Turkish Population
Calikoglu M, et al.
Biochem Genet 2006 Sep

 

Diseases of the Digestive System

Dopamine D(2) Receptor Polymorphisms in Inflammatory Bowel Disease and the Refractory Response to Treatment
Magro F, et al.
Dig Dis Sci 2006 Sep

Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients
Kalinin VN, et al.
World J Gastroenterol 2006 Sep;12(33):5352-6

TGFB1 gene polymorphisms: their relevance in the susceptibility to Helicobacter pylori-related diseases
Garcia-Gonzalez MA, et al.
Genes Immun 2006 Sep

 

Diseases of the Genitourinary System

Changes in fat mass after initiation of maintenance dialysis is influenced by the uncoupling protein 2 exon 8 insertion/deletion polymorphism
Wang X, et al.
Nephrol Dial Transplant 2006 Sep

KRAS variation and risk of endometriosis
Zhao ZZ, et al.
Mol Hum Reprod 2006 Sep

Ctla-4 exon 1 (+49) and promoter (-318) gene polymorphisms in kidney transplantation
Gorgi Y, et al.
Transplant Proc 2006 Sep;38(7):2303-5

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association of cytochrome P450 1B1 polymorphism with first-trimester miscarriage
Karypidis AH, et al.
Fertil Steril 2006 Sep

Toll-like receptor 4 polymorphisms and idiopathic chromosomally normal miscarriage
Hirschfeld AF, et al.
Hum Reprod 2006 Sep

 

Diseases of the Skin and Subcutaneous Tissue

Polymorphism of the promoter region and exon 1 of the CTLA4 gene in endemic pemphigus foliaceus (fogo selvagem)
Pavoni DP, et al.
Braz J Med Biol Res 2006 Sep;39(9):1227-32

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of estrogen receptor alpha gene polymorphisms and lifestyle factors with calcaneal quantitative ultrasound and osteoporosis in postmenopausal Vietnamese women
Binh TQ, et al.
J Hum Genet 2006 Sep

NOD2 allele variants in patients with rheumatoid arthritis
Pawlik A, et al.
Clin Rheumatol 2006 Sep

Association of polymorphisms in the peroxisome proliferator-activated receptor {gamma} gene and osteoarthritis of the knee
Cheng S, et al.
Ann Rheum Dis 2006 Oct;65(10):1394-7

SULT1E1 Genetic Polymorphisms Modified the Association between Phytoestrogen Consumption and Bone Mineral Density in Healthy Korean Women
Lee SA, et al.
Calcif Tissue Int 2006 Sep

CYP17 and COMT gene polymorphisms can influence bone directly, or indirectly through their effects on endogenous sex steroids, in postmenopausal Japanese women
Gorai I, et al.
Bone 2006 Sep

IL13RA2 Gene Polymorphisms Are Associated with Systemic Sclerosis
Granel B, et al.
J Rheumatol 2006 Sep

 

Congenital Anomalies

Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens
Radpour R, et al.
Mol Hum Reprod 2006 Sep

 

Certain Conditions Originating in the Perinatal Period

Selectin polymorphisms and perinatal morbidity in low-birthweight infants
Derzbach L, et al.
Acta Paediatr 2006 Oct;95(10):1213-7

 

Symptoms, Signs and Ill-defined Conditions

Analysis of Common Polymorphisms in Angiotensin-converting Enzyme and Apolipoprotein E Genes and Human Longevity in Colombia
Forero DA, et al.
Arch Med Res 2006 Oct;37(7):890-4

MC4R marker associated with stature in children and young adults: a longitudinal study
Santoro N, et al.
J Pediatr Endocrinol Metab 2005 Sep;18(9):859-63

 

Injury and Poisoning

Glutathione S-transferase M1 and GST T1 genetic polymorphisms and Raynaud's phenomenon in French vinyl chloride monomer-exposed workers
Fontana L, et al.
J Hum Genet 2006 Sep

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
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