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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 25, 2007
Volume 19, No. 17

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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

CYP2F1 genetic polymorphism: Identification of interethnic variations
Tournel G, et al.
Xenobiotica 2007 Oct:1-6

 

Infectious and Parasitic Diseases

Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis
Cho HJ, et al.
Tuberculosis (Edinb) 2007 Nov;87(6):551-6

SLC11A1 (formerly NRAMP1) polymorphisms associated with multidrug-resistant tuberculosis
Takahashi K, et al.
Tuberculosis (Edinb) 2007 Oct

A CXCL2 polymorphism is associated with better outcomes in patients with severe sepsis
Villar J, et al.
Crit Care Med 2007 Oct;35(10):2292-7

CCL3L1 and CCR5 influence cell-mediated immunity and affect HIV-AIDS pathogenesis via viral entry-independent mechanisms
Dolan MJ, et al.
Nat Immunol 2007 Oct

 

Neoplasms

Vascular endothelial growth factor gene polymorphisms in thyroid cancer
Hsiao PJ, et al.
J Endocrinol 2007 Nov;195(2):265-70

Absence of epidermal growth factor receptor mutations in cervical cancer
Arias-Pulido H, et al.
Int J Gynecol Cancer 2007 Oct

Proline homozygosity in codon 72 of TP53 is a factor of susceptibility to nasopharyngeal carcinoma in Tunisia
Hadhri-Guiga B, et al.
Cancer Genet Cytogenet 2007 Oct;178(2):89-93

Prognostic importance of DNA repair gene polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln in lung cancer patients from India
Sreeja L, et al.
J Cancer Res Clin Oncol 2007 Oct

Sun Exposure, Vitamin D Receptor Gene Polymorphisms, and Breast Cancer Risk in a  Multiethnic Population
John EM, et al.
Am J Epidemiol 2007 Oct

Epidermal growth factor receptor gene amplification and gefitinib sensitivity in  patients with recurrent lung cancer
Sasaki H, et al.
J Cancer Res Clin Oncol 2007 Oct

Tissue inhibitor of metalloproteinase-2 G-418C polymorphism is associated with an increased risk of gastric cancer in a Chinese population
Yang L, et al.
Eur J Surg Oncol 2007 Oct

MSH2 118T>C and MSH6 159C>T Promoter Polymorphisms and the Risk of Colorectal Cancer
Mrkonjic M, et al.
Carcinogenesis 2007 Oct

The predictive value of p53 and p33(ING1b) in patients with Dukes'C colorectal cancer
Ahmed IA, et al.
Colorectal Dis 2007 Oct

Implication of BRCA2 -26G>A 5'UTR polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72Arg>Pro polymorphism
Gochhait S, et al.
Breast Cancer Res 2007 Oct;9(5):R71

EGF promoter SNPs, plasma EGF levels and risk of breast cancer in Chinese women
Wang Y, et al.
Breast Cancer Res Treat 2007 Oct

CASP8 polymorphisms, estrogen and progesterone receptor status, and breast cancer risk
Han S, et al.
Breast Cancer Res Treat 2007 Oct

Haplotypes of the estrogen receptor beta gene and breast cancer risk
Int J Cancer 2007 Oct

Genetic polymorphisms of TLR3 are associated with Nasopharyngeal carcinoma risk in Cantonese population
He JF, et al.
BMC Cancer 2007 Oct;7(1):194

Genetic Polymorphisms in the UGT1A1 Gene and Breast Cancer Risk in Greek Women
Tsezou A, et al.
Genet Test 2007 Fall;11(3):303-6

Association of interleukin-8 (IL-8 or CXCL8) -251T/A and CXCR2 +1208C/T gene polymorphisms with breast cancer
Kamali-Sarvestani E, et al.
Neoplasma 2007;54(6):484-9

 

Endocrine, Nutritional and Metabolic Diseases

Low-density lipoprotein receptor-related protein-5 C/T polymorphism in exon 18 is associated with C peptide and proinsulin levels in control women and patients with polycystic ovary syndrome
Bendlova B, et al.
Fertil Steril 2007 Oct

Susceptible Alleles of the CD40 and CTLA-4 Genes Are Not Associated with the Relapse after Antithyroid Withdrawal in Graves' Disease
Kim KW, et al.
Thyroid 2007 Oct

Paraoxonase 1 gene polymorphisms and enzyme activities in diabetes mellitus
Flekac M, et al.
Physiol Res 2007 Oct

Low physical activity accentuates the effect of the FTO rs9939609 polymorphism on body fat accumulation
Andreasen CH, et al.
Diabetes 2007 Oct

Adiponectin Gene Variation -4522C/T Is Associated with Type 2 Diabetic Obesity and Insulin Resistance in Chinese
Liu H, et al.
J Genet Genomics 2007 Oct;34(10):877-84

Non-Replication of the Type 5 17{beta}-Hydroxysteroid Dehydrogenase Gene Association with Polycystic Ovary Syndrome
Goodarzi MO, et al.
J Clin Endocrinol Metab 2007 Oct

TUB is a candidate gene for late-onset obesity in women
Snieder H, et al.
Diabetologia 2007 Oct

Association study between single nucleotide polymorphisms in the VEGF gene and polycystic ovary syndrome
Lee EJ, et al.
Fertil Steril 2007 Oct

Lack of Association of VDR Gene Polymorphisms with Thyroid Autoimmune Disorders:  Familial and Case/Control Studies
Maalej A, et al.
J Clin Immunol 2007 Oct

Single nucleotide polymorphisms in genes encoding LKB1 (STK11), TORC2 (CRTC2) and AMPK alpha2-subunit (PRKAA2) and risk of type 2 diabetes
Keshavarz P, et al.
Mol Genet Metab 2007 Oct

Novel melanocortin 4 receptor gene mutations in severely obese children
Lee YS, et al.
Clin Endocrinol (Oxf) 2007 Oct

Genetic variants within the LPIN1 gene, encoding lipin, are influencing phenotypes of the metabolic syndrome in humans
Wiedmann S, et al.
Diabetes 2007 Oct

Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' disease
Kisiel B, et al.
Clin Endocrinol (Oxf) 2007 Oct

 

Diseases of the Blood & Blood-Forming Organ Disorders

Status of Donor-Recipient HLA Class I Ligands and Not the KIR Genotype Is Predictive for the Outcome of Unrelated Hematopoietic Stem Cell Transplantation in Beta-Thalassemia Patients
La Nasa G, et al.
Biol Blood Marrow Transplant 2007 Nov;13(11):1358-68

 

Mental Disorders

Variation in GABRA2 Predicts Drinking Behavior in Project MATCH Subjects
Bauer LO, et al.
Alcohol Clin Exp Res 2007 Nov;31(11):1780-7

A polymorphism at the 3'-untranslated region of the CLOCK gene is associated with adult attention-deficit hyperactivity disorder
Kissling C, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Chromosome 4q31-34 panic disorder risk locus: Association of neuropeptide Y Y5 receptor variants
Domschke K, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Association between Monoamine Oxidase A Polymorphisms and Anger-Related Personality Traits in Korean Women
Yang JW, et al.
Neuropsychobiology 2007 Oct;56(1):19-23

Serotonin Transporter Gene Polymorphism (5-HTTLPR) and Anxiety Reactivity in Daily Life: A Daily Process Approach to Gene-Environment Interaction
Gunthert KC, et al.
Psychosom Med 2007 Oct

Association between serotonin 1D gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid learning disorder.
Li J, et al.
Beijing Da Xue Xue Bao 2007 Oct;39(5):535-8

Is MYO9B the missing link between schizophrenia and celiac disease?
Jungerius BJ, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS
Michaelovsky E, et al.
Int J Neuropsychopharmacol 2007 Oct:1-13

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome
Zinn AR, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Effects of Environmental Stress and Gender on Associations among Symptoms of Depression and the Serotonin Transporter Gene Linked Polymorphic Region (5-HTTLPR)
Brummett BH, et al.
Behav Genet 2007 Oct

Association of dopamine, serotonin, and nicotinic gene polymorphisms with methylphenidate response in ADHD
Tharoor H, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

The association between DRD2/ANKK1, 5-HTTLPR gene, and specific personality trait on antisocial alcoholism among Han Chinese in Taiwan
Wu CY, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Replication study and meta-analysis of the genetic association of GRM3 gene polymorphisms with schizophrenia in a large Japanese case-control population
Albalushi T, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with  acutely exacerbated schizophrenia? Results from treatment responses to risperidone in a naturalistic setting
Kim B, et al.
Hum Psychopharmacol 2007 Oct

Divergent backward masking performance in schizophrenia and bipolar disorder: Association with COMT
Goghari VM & Sponheim SR
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Gene-Environment interactions in the development of combined type ADHD: Evidence  for a synapse-based model
Todd RD & Neuman RJ
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

No evidence for genetic association between DARPP-32 (PP1R1B) polymorphisms and attention deficit hyperactivity disorder
Laurin N, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Dopa decarboxylase and tyrosine hydroxylase gene variants in suicidal behavior
Giegling I, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

 

Diseases of the Nervous System and Sense Organs

Cognitive phenotypes in Alzheimer's disease and genetic risk
Snowden JS, et al.
Cortex 2007 Oct;43(7):835-45

Association of the MMP-3 5A/6A gene polymorphism with multiple sclerosis in patients from Serbia
Djuric T, et al.
J Neurol Sci 2007 Oct

Screening of the SPTBN2 (SCA5) gene in German SCA patients
Zuhlke C, et al.
J Neurol 2007 Oct

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria
Ramsebner R, et al.
Otol Neurotol 2007 Oct;28(7):884-6

Multiple sclerosis and the CTLA4 autoimmunity polymorphism CT60: no association in patients from Germany, Hungary and Poland
Greve B, et al.
Mult Scler 2007 Oct

Polymorphisms of the cannabinoid 1 receptor gene and cognitive impairment in multiple sclerosis
Woolmore JA, et al.
Mult Scler 2007 Oct

The association analysis of RELN and GRM8 genes with autistic spectrum disorder in chinese han population
Li H, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene
Verny C, et al.
Eur J Neurol 2007 Oct

Serotonin Transporter (5-HTTLPR) Genotype and Amygdala Activation: A Meta-Analysis
Munafo MR, et al.
Biol Psychiatry 2007 Oct

Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population
Wang L, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct

NPHS2 Variation in Sporadic Focal Segmental Glomerulosclerosis
McKenzie LM, et al.
J Am Soc Nephrol 2007 Oct

A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia
Tsai YY, et al.
Eye 2007 Oct

 

Diseases of the Circulatory System

A protective role of a cholesteryl ester transfer protein gene variant towards ischaemic stroke in Sardinians
Quarta G, et al.
J Intern Med 2007 Nov;262(5):555-61

Functional BSND Variants in Essential Hypertension
Sile S, et al.
Am J Hypertens 2007 Nov;20(11):1176-82

Free Interleukin (IL)-18 Levels, and the Impact of IL18 and IL18BP Genetic Variation, in CHD Patients and Healthy Men
Thompson SR, et al.
Arterioscler Thromb Vasc Biol 2007 Oct

Genetic Variation in ABCA1 Predicts Ischemic Heart Disease in the General Population
Frikke-Schmidt R, et al.
Arterioscler Thromb Vasc Biol 2007 Oct

Factor V Leiden: prevalence and thromboembolic complications after total hip replacement in Ireland
Bowler DJ, et al.
Ir J Med Sci 2007 Oct

 

Diseases of the Respiratory System

T cell-specific T-box transcription factor haplotype is associated with allergic  asthma in children
Munthe-Kaas MC, et al.
J Allergy Clin Immunol 2007 Oct

 

Diseases of the Digestive System

Association of beta-defensin 1 single nucleotide polymorphisms with Crohn's disease
Kocsis AK, et al.
Scand J Gastroenterol 2007 Oct:1-9

Cholecystokinin receptor A gene polymorphism in gallstone disease and gallbladder cancer
Srivastava A, et al.
J Gastroenterol Hepatol 2007 Oct

Association of myo9b gene in Italian patients with inflammatory bowel diseases
Latiano A, et al.
Aliment Pharmacol Ther 2007 Oct

Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo
Lappalainen M, et al.
Inflamm Bowel Dis 2007 Oct

Polymorphisms of the MCP-1 and HSP70-2 Genes in Korean Patients with Alcoholic Chronic Pancreatitis
Lee SH, et al.
Dig Dis Sci 2007 Oct

Genetic contribution of major histocompatibility complex class II region to type  1 autoimmune hepatitis susceptibility in Venezuela
Fortes MD, et al.
Liver Int 2007 Oct

Role of IL-6, TNF-A and LT-A variants in the modulation of the clinical expression of plaque-induced gingivitis
Scapoli C, et al.
J Clin Periodontol 2007 Oct

The extent of periodontal disease and the IL-6(-174) genotype as determinants of  serum IL-6 level
Raunio T, et al.
J Clin Periodontol 2007 Oct

Influence of the inducible nitric oxide synthase gene (NOS2A) on inflammatory bowel disease susceptibility
Martin MC, et al.
Immunogenetics 2007 Oct

 

Diseases of the Genitourinary System

Adhesion Molecule Polymorphisms in Acute Renal Allograft Rejection
Khazen D, et al.
Transplant Proc 2007 Oct;39(8):2563-4

Human Platelet Antigens: HPA-1, -2, -3, -4, and -5 Polymorphisms in Kidney Transplantation
Gorgi Y, et al.
Transplant Proc 2007 Oct;39(8):2568-70

 

Diseases of the Musculoskeletal System and Connective Tissue

The Relationship Between IL-1 Gene Polymorphism and Marginal Bone Loss Around Dental Implants
Lin YH, et al.
J Oral Maxillofac Surg 2007 Nov;65(11):2340-4

Association of CA Repeat Polymorphism in Estrogen Receptor beta Gene with Postmenopausal Osteoporosis in Chinese
Geng L, et al.
J Genet Genomics 2007 Oct;34(10):868-76

Association between early onset and organ manifestations of systemic lupus erythematosus (SLE) and a down-regulating promoter polymorphism in the MBL2 gene
Jakab L, et al.
Clin Immunol 2007 Oct

Association of the estrogen receptor alpha gene polymorphisms with osteoporosis in the Mexican population
Gomez R, et al.
Clin Genet 2007 Oct

 

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