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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
March 15, 2007
Volume 18, No. 11

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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

Single nucleotide polymorphisms study of surfactant protein A gene between Tibet Sherpas and Guangdong Chinese Hans
Wang SW, et al.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2007 Mar;23(3):226-8

Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome
Hung CS, et al.
J Formos Med Assoc 2007 Feb;106(2):169-72

 

Neoplasms

Significance of glutathione S-transferases M1, T1 and P1 polymorphisms in Swedish melanoma patients
Bu H, et al.
Oncol Rep 2007 Apr;17(4):859-64

Strong association of the tissue inhibitor of metalloproteinase-2 polymorphism with an increased risk of oral squamous cell carcinoma in Europeans
Vairaktaris E, et al.
Oncol Rep 2007 Apr;17(4):963-8

Mutation analysis of the tumor suppressor gene PPP2R1B in human cervical cancer
Yeh LS, et al.
Int J Gynecol Cancer 2007 Mar

ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?
Tapia T, et al.
Breast Cancer Res Treat 2007 Mar

Prognosis in patients with hepatocellular carcinoma correlates to mutations of p53 and/or hMSH2 genes
Yano M, et al.
Eur J Cancer 2007 Mar

MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer
Hubner RA, et al.
Hum Mol Genet 2007 Mar

Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma
Cotignola J, et al.
BMC Med Genet 2007 Mar;8(1):10

The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3'UTR, and their association with clinical course of melanoma
Lamperska KM, et al.
Acta Biochim Pol 2007 Mar

Association of NFKBIA polymorphism with colorectal cancer risk and prognosis in Swedish and Chinese populations
Gao J, et al.
Scand J Gastroenterol 2007 Mar;42(3):345-50

No evidence for association of NOD2 R702W and G908R with colorectal cancer
Tuupanen S, et al.
Int J Cancer 2007 Mar

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility
Johnson N, et al.
Hum Mol Genet 2007 Mar

Impact of epidermal growth factor receptor (EGFR) kinase mutations, EGFR gene amplifications, and KRAS mutations on survival of pancreatic adenocarcinoma
Lee J, et al.
Cancer 2007 Mar

The investigation of GSTT1, GSTM1 and SOD polymorphism in bladder cancer patients
Cengiz M, et al.
Int Urol Nephrol 2007 Mar

CTLA-4 gene and susceptibility to human papillomavirus 16-associated cervical squamous cell carcinoma in Taiwanese women
Su TH, et al.
Carcinogenesis 2007 Mar

 

Endocrine, Nutritional and Metabolic Diseases

The APOB -516C/T polymorphism is associated with differences in insulin sensitivity in healthy males during the consumption of diets with different fat content
Perez-Martinez P, et al.
Br J Nutr 2007 Apr;97(4):622-7

The relationship of the methylenetetrahydrofolate reductase C677T gene polymorphism in Turkish type 2 diabetic patients with and without nephropathy
Eroglu Z, et al.
Diabetes Metab Res Rev 2007 Mar

A functional variant of the adipocyte glycerol channel Aquaporin 7 gene is associated with obesity and related metabolic abnormalities
Prudente S, et al.
Diabetes 2007 Mar

Replication study for the association of TCF7L2 with susceptibility to type 2 diabetes in a Japanese population
Hayashi T, et al.
Diabetologia 2007 Mar

A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression
Jacobson EM, et al.
Genes Immun 2007 Mar

IL13 gene polymorphism association with cord serum immunoglobulin E
Sadeghnejad A, et al.
Pediatr Allergy Immunol 2007 Mar

MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes: An association and meta-analysis
Alizadeh BZ, et al.
Mol Immunol 2007 Mar

Association analysis of vitamin D-binding protein gene polymorphisms with variations of obesity-related traits in Caucasian nuclear families
Jiang H, et al.
Int J Obes (Lond) 2007 Mar

Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature
Guevara-Aguirre J, et al.
Growth Horm IGF Res 2007 Mar

 

Diseases of the Blood & Blood-Forming Organ Disorders

Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome
Monteferrante G, et al.
Mol Immunol 2007 Mar;44(7):1704-8

 

Mental Disorders

More evidence supports the association of PPP3CC with schizophrenia
Liu YL, et al.
Mol Psychiatry 2007 Mar

Lack of association between the norepinephrine transporter gene and major depression in a Han Chinese population
Chang CC, et al.
J Psychiatry Neurosci 2007 Mar;32(2):121-8

Effects of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on executive function in schizophrenia
Roffman JL, et al.
Schizophr Res 2007 Mar

Serotonin Receptor 2A Gene and the Influence of Childhood Maternal Nurturance on Adulthood Depressive Symptoms
Jokela M, et al.
Arch Gen Psychiatry 2007 Mar;64(3):356-60

Anxiety and Comorbid Measures Associated With PLXNA2
Wray NR, et al.
Arch Gen Psychiatry 2007 Mar;64(3):318-26

 

Diseases of the Nervous System and Sense Organs

Influence of CCR5-Delta32 genotype in Spanish population with multiple sclerosis
Otaegui D, et al.
Neurogenetics 2007 Mar

Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1
Sacco R, et al.
BMC Med Genet 2007 Mar;8(1):11

The spectrum of SCN1A-related infantile epileptic encephalopathies
Harkin LA, et al.
Brain 2007 Mar;130(Pt 3):843-52

KIBRA gene variants are associated with episodic memory in healthy elderly
Schaper K, et al.
Neurobiol Aging 2007 Mar

The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration
Francis PJ, et al.
Hum Hered 2007 Mar;63(3-4):212-8

LRRK2 Exon 41 Mutations in Sporadic Parkinson Disease in Europeans
Lesage S, et al.
Arch Neurol 2007 Mar;64(3):425-30

Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism
Nishimura K, et al.
Biochem Biophys Res Commun 2007 Mar

 

Diseases of the Circulatory System

Is the plasminogen activator inhibitor-1 gene a candidate gene predisposing to hypertension? Results from a population-based study in Spain
Martinez-Calatrava MJ, et al.
J Hypertens 2007 Apr;25(4):773-7

Effect of the alpha2C-adrenoreceptor deletion322-325 variant on sympathetic activity and cardiovascular measures in healthy subjects
Kurnik D, et al.
J Hypertens 2007 Apr;25(4):763-71

Increased risk of incident stroke associated with the cyclooxygenase 2 (COX-2) G-765C polymorphism in African-Americans: The Atherosclerosis Risk in Communities Study
Kohsaka S, et al.
Atherosclerosis 2007 Mar

C-reactive protein genetics is associated with carotid artery compliance in men in The Cardiovascular Risk in Young Finns Study
Eklund C, et al.
Atherosclerosis 2007 Mar

Relationship between age-related macular degeneration-associated variants of complement factor H and LOC387715 with coronary artery disease
Pulido JS, et al.
Mayo Clin Proc 2007 Mar;82(3):301-7

No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study
Bezemer ID, et al.
Arch Intern Med 2007 Mar;167(5):497-501

No evidence for involvement of prothrombotic platelet receptor polymorphisms in acute coronary stent thrombosis
Sucker C, et al.
Int J Cardiol 2007 Mar

 

Diseases of the Respiratory System

Cytokine genotype and phenotype effects on lung function decline in firefighters
Josyula AB, et al.
J Occup Environ Med 2007 Mar;49(3):282-8

 

Diseases of the Digestive System

Apolipoprotein B (APOB) gene polymorphism in patients with gallbladder disease
Kurzawski M, et al.
Arch Med Res 2007 Apr;38(3):360-3

HLA-related genetic risk for coeliac disease
Bourgey MM, et al.
Gut 2007 Mar

Genetic polymorphisms of inflammatory cytokines and liver fibrosis progression due to recurrent hepatitis C
Falleti E, et al.
J Interferon Cytokine Res 2007 Mar;27(3):239-46

 

Diseases of the Genitourinary System

Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels
Barber TM, et al.
Eur J Hum Genet 2007 Mar

Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach
Kankova K, et al.
Diabetologia 2007 Mar

 

Complications of Pregnancy, Childbirth, and the Puerperium

A common haplotype of the annexin A5 (ANXA5) gene promoter Is associated with recurrent pregnancy loss
Bogdanova N, et al.
Hum Mol Genet 2007 Mar

A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus
Shaat N, et al.
Diabetologia 2007 Mar

Ethnic differences in interleukin 6 (IL-6) and IL6 receptor genes in spontaneous preterm birth and effects on amniotic fluid protein levels
Velez DR, et al.
Ann Hum Genet 2007 Mar

 

Diseases of the Skin and Subcutaneous Tissue

Clinical associations of the risk alleles of HLA-Cw6 and CCHCR1*WWCC in psoriasis
Suomela S, et al.
Acta Derm Venereol 2007;87(2):127-34

Three retinoid X receptor gene polymorphisms in plaque psoriasis and psoriasis guttata
Vasku V, et al.
Dermatology 2007;214(2):118-24

 

Diseases of the Musculoskeletal System and Connective Tissue

Genetic variations of Toll-like receptor 9 predispose to systemic lupus erythematosus in Japanese population
Tao K, et al.
Ann Rheum Dis 2007 Mar

Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort
Thorburn CM, et al.
Genes Immun 2007 Mar

CTLA-4 +49A/G and CT60 gene polymorphisms in primary Sjogren syndrome
Gottenberg JE, et al.
Arthritis Res Ther 2007 Mar;9(2):R24

 

Congenital Anomalies

Association between CFL1 gene polymorphisms and spina bifida risk in a California population
Zhu H, et al.
BMC Med Genet 2007 Mar;8(1):12

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias
Beleza-Meireles A, et al.
Reprod Biol Endocrinol 2007 Mar;5(1):8

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease
Schluterman MK, et al.
Am J Med Genet A 2007 Mar

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations
Seto ML, et al.
Am J Med Genet A 2007 Mar

 

Certain Conditions Originating in the Perinatal Period

Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome
Forsyth L, et al.
J Pathol 2007 Mar

 

Symptoms, Signs and Ill-defined Conditions

Interaction between the angiotensin-converting enzyme gene insertion/deletion polymorphism and obstructive sleep apnoea as a mechanism for hypertension
Bostrom KB, et al.
J Hypertens 2007 Apr;25(4):779-83

A novel single-nucleotide polymorphism in the lactoferrin gene is associated with susceptibility to diarrhea in North American travelers to Mexico
Mohamed JA, et al.
Clin Infect Dis 2007 Apr;44(7):945-52

Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans
Kim H & Dionne RA
Mol Pain 2007 Mar;3(1):6

 

 

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Page last reviewed: March 15, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics