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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 22, 2007
Volume 18, 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

CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure
Sistonen J, et al.
Pharmacogenet Genomics 2007 Feb;17(2):93-101

HLA-A, -B, -DR and -DQ allele and haplotype frequencies in the Moroccan population: a general population study
Brick C, et al.
Transfus Clin Biol 2007 Feb

Characterization of HPSE gene single nucleotide polymorphisms in Jewish populations of Israel
Ostrovsky O, et al.
Acta Haematol 2007;117(1):57-64

Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population
Lukac-Bajalo J, et al.
Clin Biochem 2006 Dec

Differential duplication of an intronic region in the NFATC1 gene in patients with congenital heart disease
Yehya A, et al.
Genome 2006 Sep;49(9):1092-8

 

Infectious and Parasitic Diseases

IL-1B-511 C-->T Polymorphism is Associated with Increased Host Susceptibility to Helicobacter pylori Infection in Chinese
Liou JM, et al.
Helicobacter 2007 Apr;12(2):142-9

Influence of HLA Alleles on Shedding of Kaposi Sarcoma-Associated Herpesvirus in Saliva in an African Population
Alkharsah KR, et al.
J Infect Dis 2007 Mar;195(6):809-16

NRAMP1 and TNF-alpha polymorphisms and susceptibility to tuberculosis in Thais
Vejbaesya S, et al.
Respirology 2007 Mar;12(2):202-6

The Haptoglobin 2-2 Genotype Is Associated with a Reduced Incidence of Plasmodium falciparum Malaria in Children on the Coast of Kenya
Atkinson SH, et al.
Clin Infect Dis 2007 Mar;44(6):802-9

Frequency of CCR5 variants among rural populations with low HIV-1 prevalence in Cameroon
Torimiro JN, et al.
AIDS 2007 Feb;21(4):527-8

Polymorphisms in Toll-like receptor 9 influence the clinical course of HIV-1 infection
Bochud PY, et al.
AIDS 2007 Feb;21(4):441-6

 

Neoplasms

MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer
Valle L, et al.
Clin Genet 2007 Mar;71(3):232-7

Alcohol Dehydrogenase Genetic Polymorphisms, Low-to-Moderate Alcohol Consumption, and Risk of Breast Cancer
Visvanathan K, et al.
Alcohol Clin Exp Res 2007 Mar;31(3):467-76

Association of testis derived transcript gene variants and prostate cancer risk
Liu X, et al.
J Urol 2007 Mar;177(3):894-8

ABCB1 and GST polymorphisms associated with TP53 status in breast cancer
Nordgard SH, et al.
Pharmacogenet Genomics 2007 Feb;17(2):127-36

Association between the TP53 codon72 polymorphism and oral cancer risk and prognosis
Kuroda Y, et al.
Oral Oncol 2007 Feb

Dietary Folate Intake in Combination with MTHFR C677T Genotype and Promoter Methylation of Tumor Suppressor and DNA Repair Genes in Sporadic Colorectal Adenomas
van den Donk M, et al.
Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):327-33

The Prevalence of BRCA2 Mutations in Familial Pancreatic Cancer
Couch FJ, et al.
Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):342-6

Toll-like receptor 4 genetic variation and advanced prostate cancer risk
Cheng I, et al.
Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):352-5

Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations
Kadouri L, et al.
J Med Genet 2007 Feb

Germ line and somatic mutations of BRAF V599E in ovarian carcinoma
Ueda M, et al.
Int J Gynecol Cancer 2007 Feb

Interleukin-1 Beta-511 polymorphism and risk of cervical cancer
Kang S, et al.
J Korean Med Sci 2007 Feb;22(1):110-3

Influence of genetic polymorphisms in CYP3A4, CYP3A5, GSTP1, GSTM1, GSTT1 and MDR1 genes on survival and therapy-related toxicity in multiple myeloma
Schilthuizen C, et al.
Haematologica 2007 Feb;92(2):277-8

Susceptibility to Oral Cancer by Genetic Polymorphisms at CYP1A1, GSTM1 and GSTT1 Loci among Indians: Tobacco Exposure as a Risk Modulator
Devasena A, et al.
Carcinogenesis 2007 Feb

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis
Carvalho MA, et al.
Cancer Res 2007 Feb;67(4):1494-501

Common Genetic Variation in TP53 Is Associated with Lung Cancer Risk and Prognosis in African Americans and Somatic Mutations in Lung Tumors
Mechanic LE, et al.
Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):214-22

Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk
Frank B, et al.
Carcinogenesis 2007 Feb

The significance of C3435T point mutation of the MDR1 gene in endometrial cancer
Mrozikiewicz PM, et al.
Int J Gynecol Cancer 2007 Feb

Dietary Folate Intake, MTHFR Genetic Polymorphisms, and the Risk of Endometrial Cancer among Chinese Women
Xu WH, et al.
Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):281-7

The RAD51 135 G>C Polymorphism Modifies Breast Cancer and Ovarian Cancer Risk in Polish BRCA1 Mutation Carriers
Jakubowska A, et al.
Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):270-5

Cyclin D1 Guanine/Adenine 870 Polymorphism With Altered Protein Expression Is Associated With Genomic Instability and Aggressive Clinical Biology of Esophageal Adenocarcinoma
Izzo JG, et al.
J Clin Oncol 2007 Feb;25(6):698-707

Interaction of soy and 17beta-HSD1 gene polymorphisms in the risk of endometrial cancer
Dai Q, et al.
Pharmacogenet Genomics 2007 Feb;17(2):161-7

Evidence of gene-gene interactions in lung carcinogenesis in a large pooled analysis
Vineis P, et al.
Carcinogenesis 2007 Feb

Myeloperoxidase G-463A polymorphism and lung cancer: A HuGE Genetic Susceptibility to Environmental Carcinogens pooled analysis
Taioli E, et al.
Genet Med 2007 Feb;9(2):67-73

Genetic Variation in the Premature Aging Gene WRN: A Case-Control Study on Breast Cancer Susceptibility
Ding SL, et al.
Cancer Epidemiol Biomarkers Prev 2007 Feb;16(2):263-9

Association between interleukin-1 gene polymorphisms and Helicobacter pylori infection in gastric carcinogenesis in a Chinese population
Li C, et al.
J Gastroenterol Hepatol 2007 Feb;22(2):234-9

Protective association of MTHFR polymorphism on cervical intraepithelial neoplasia is modified by riboflavin status
Piyathilake CJ, et al.
Nutrition 2007 Feb

Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: A meta-analysis
Kiyohara C & Yoshimasu K
Int J Med Sci 2007;4(2):59-71

 

Endocrine, Nutritional and Metabolic Diseases

B-cell numbers in the blood of patients with non-HLA*B8 or non-HLA*B44 common variable immunodeficiency
Johnston DT & Schroeder HW Jr
Ann Allergy Asthma Immunol 2007 Feb;98(2):163-7

Metabolic syndrome and ADRB3 gene polymorphism in severely obese patients from South Italy
Bracale R, et al.
Eur J Clin Nutr 2007 Feb

Frequency and significance of the novel single nucleotide missense polymorphism Val109Asp in the human gene encoding omentin in Caucasian patients with type 2 diabetes mellitus or chronic inflammatory bowel diseases
Schaffler A, et al.
Cardiovasc Diabetol 2007 Feb;6(1):3

Fetal growth is increased by maternal type 1 diabetes and HLA DR4-related gene interactions
Hummel M, et al.
Diabetologia 2007 Feb

CYP17 genotype is associated with short menstrual cycles, early oral contraceptive use and BRCA mutation status in young healthy women
Henningson M, et al.
Mol Hum Reprod 2007 Feb

Short allele of serotonin transporter gene promoter is a risk factor for obesity in adolescents
Sookoian S, et al.
Obesity (Silver Spring) 2007 Feb;15(2):271-6

Association of lipoprotein lipase gene polymorphisms with obesity and type 2 diabetes in an Asian Indian population
Radha V, et al.
Int J Obes (Lond) 2007 Feb

Homocysteine levels in children and adolescents are associated with the methylenetetrahydrofolate reductase 677C>T genotype, but not with physical activity, fitness or fatness: The European Youth Heart Study
Ruiz JR, et al.
Br J Nutr 2007 Feb;97(2):255-62

Gene-environment interaction and the GNB3 gene in the Atherosclerosis Risk in Communities Study
Grove ML, et al.
Int J Obes (Lond) 2007 Feb

Hemochromatosis gene sequence deviations in german patients with porphyria cutanea tarda
Frank J, et al.
Physiol Res 2007;55 Suppl 2:S75-83

 

Diseases of the Blood & Blood-Forming Organ Disorders

Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in Central Greece compared to the rest of the country
Samara M, et al.
Am J Hematol 2007 Feb

HFE gene mutations in Tunisian major beta-Thalassemia and iron overload
Mellouli F, et al.
Transfus Clin Biol 2007 Feb

Apolipoprotein E gene polymorphism and left ventricular function in Iranian patients with thalassemia major
Bazrgar M, et al.
Haematologica 2007 Feb;92(2):256-7

 

Mental Disorders

The monoamine oxidase A (MAO-A) gene, family function and maltreatment as predictors of destructive behaviour during male adolescent alcohol consumption
Nilsson KW, et al.
Addiction 2007 Mar;102(3):389-98

Monoamine Metabolites Level in CSF is Related to the 5-HTT Gene Polymorphism in Treatment-Resistant Depression
Kishida I, et al.
Neuropsychopharmacology 2007 Feb

Gender-Dependent Association of the Functional Catechol-O-Methyltransferase Val158Met Genotype with Sensation Seeking Personality Trait
Lang UE, et al.
Neuropsychopharmacology 2007 Feb

Effects of craving and DRD4 VNTR genotype on the relative value of alcohol: an initial human laboratory study
Mackillop J, et al.
Behav Brain Funct 2007 Feb;3(1):11

The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland
Turunen JA, et al.
Schizophr Res 2007 Feb

Clinical and Genetic Dissection of Anger Expression and CREB1 Polymorphisms in Major Depressive Disorder
Perlis RH, et al.
Biol Psychiatry 2007 Feb

The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH genetics initiative for schizophrenia sample
Philibert RA, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Feb

 

Diseases of the Nervous System and Sense Organs

HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin
Restagno G, et al.
J Neurol Neurosurg Psychiatry 2007 Mar;78(3):327

TNF-alpha, TNF-beta and IL-4 gene polymorphisms in Iranian patients with multiple sclerosis
Kamali-Sarvestani E, et al.
Acta Neurol Scand 2007 Mar;115(3):161-6

Leucine 7-proline 7 polymorphism in the signal peptide of neuropeptide Y is not a risk factor for exudative age-related macular degeneration
Kaarniranta K, et al.
Acta Ophthalmol Scand 2007 Mar;85(2):188-91

Interleukin-18 gene polymorphisms predict risk and outcome of Alzheimer's disease
Bossu P, et al.
J Neurol Neurosurg Psychiatry 2007 Feb

Association of a polymorphism in MDR1 C3435T with response to antiepileptic drug treatment in ethic Han Chinese children with epilepsy
Chen L, et al.
Zhongguo Dang Dai Er Ke Za Zhi 2007 Feb;9(1):11-4

Population Estimation of the Effects of Cytochrome P450 2C9 and 2C19 Polymorphisms on Phenobarbital Clearance in Japanese
Goto S, et al.
Ther Drug Monit 2007 Feb;29(1):118-21

Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan
Lee YC, et al.
J Neurol Sci 2007 Feb

Apolipoprotein E gene polymorphism, total plasma cholesterol level, and Parkinson disease dementia
Jasinska-Myga B, et al.
Arch Neurol 2007 Feb;64(2):261-5

Genotype and Plasma Concentration of Cystatin C in Patients with Late-Onset Alzheimer Disease
Chuo LJ, et al.
Dement Geriatr Cogn Disord 2007 Feb;23(4):251-7

The Influence of Mutations in the SLC26A4 Gene on the Temporal Bone in a Population With Enlarged Vestibular Aqueduct
Madden C, et al.
Arch Otolaryngol Head Neck Surg 2007 Feb;133(2):162-8

Complement Factor H Polymorphism in Age-Related Macular Degeneration
Narayanan R, et al.
Ophthalmology 2007 Feb

Association of short-term memory with a variant within DYX1C1 in developmental dyslexia
Marino C, et al.
Genes Brain Behav 2007 Feb

Influence of MTHFR Genotype on Contingent Negative Variation And MRI Abnormalities in Migraine
de Tommaso M, et al.
Headache 2007 Feb;47(2):253-65

 

Diseases of the Circulatory System

Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study
Choquette A, et al.
Clin Genet 2007 Mar;71(3):245-53

Interactions and associations of paraoxonase gene cluster polymorphisms with myocardial infarction in a Pakistani population
Saeed M, et al.
Clin Genet 2007 Mar;71(3):238-44

Functional SNP in a Sp1-binding site of AGTRL1 gene is associated with susceptibility to brain infarction
Hata J, et al.
Hum Mol Genet 2007 Feb

No association of polymorphisms in the gene encoding 5-lipoxygenase-activating protein and myocardial infarction in a large central European population
Koch W, et al.
Genet Med 2007 Feb;9(2):123-9

Gain of function gene mutations and venous thromboembolism: Distinct roles in different clinical settings
Colaizzo D, et al.
J Med Genet 2007 Feb

Angiotensinogen M235T polymorphism and the risk of myocardial infarction and stroke among hypertensive patients on ACE-inhibitors or beta-blockers
Schelleman H, et al.
Eur J Hum Genet 2007 Feb

Glycoprotein Ib{alpha} Polymorphism (T145M), Elevated Lipoprotein-Associated Phospholipase A2, and Hypertriglyceridemia Predict Risk for Recurrent Coronary Events in Diabetic Postinfarction Patients
Corsetti JP, et al.
Diabetes 2007 Feb

Impact of NAD(P)H oxidase p22(phox) gene polymorphism on vascular aging in Korean centenarian and nonagenarian
Kim KI, et al.
Int J Cardiol 2007 Feb

Estrogen receptor alpha polymorphism and risk of cardiovascular disease, cancer, and hip fracture: cross-sectional, cohort, and case-control studies and a meta-analysis
Kjaergaard AD, et al.
Circulation 2007 Feb;115(7):861-71

Pharmacogenetic interactions of three candidate gene polymorphisms with ACE-inhibitors or beta-blockers and the risk of atherosclerosis
Schelleman H, et al.
Br J Clin Pharmacol 2007 Feb

Cholesteryl Ester-Transfer Protein (CETP) Polymorphism and the Association of Acute Coronary Syndromes by Obesity Status in Greek Subjects: The CARDIO2000-GENE Study
Dedoussis GV, et al.
Hum Hered 2007 Feb;63(3-4):155-61

 

Diseases of the Respiratory System

Association between the Polymorphisms of IL-4 Gene Promoter (-590C>T), IL-13 Coding Region (R130Q) and IL-16 Gene Promoter (-295T>C) and Allergic Asthma
Hosseini-Farahabadi S, et al.
Iran J Allergy Asthma Immunol 2007 Mar;6(1):9-14

Correlation of IL-1alpha and IL-4 Gene Polymorphisms and Clinical Parameters in Idiopathic Pulmonary Fibrosis
Vasakova M, et al.
Scand J Immunol 2007 Mar;65(3):265-70

Repeat length polymorphism of the serotonin transporter gene influences pulmonary artery pressure in heart failure
Olson TP, et al.
Am Heart J 2007 Mar;153(3):426-32

Ethnic Specific Gene-Gene Interaction between IL-13 and IL-4R{alpha} Among African American Asthmatics
Battle NC, et al.
Am J Respir Crit Care Med 2007 Feb

 

Diseases of the Digestive System

Genetic Polymorphisms of NOD1 and IL-8, but not Polymorphisms of TLR4 Genes, Are Associated with Helicobacter pylori-Induced Duodenal Ulcer and Gastritis
Hofner P, et al.
Helicobacter 2007 Apr;12(2):124-31

Interleukin-24, RANTES and CCR5 gene polymorphisms are not associated with chronic adult periodontitis
Savarrio L, et al.
J Periodontal Res 2007 Apr;42(2):152-8

Association of NOD2/CARD15 mutations on Crohn's disease phenotype in an Italian population
Bianchi V, et al.
Eur J Gastroenterol Hepatol 2007 Mar;19(3):217-23

Crohn's disease and polymorphism of heat shock protein gene HSP70-2 in the Tunisian population
Zouiten-Mekki L, et al.
Eur J Gastroenterol Hepatol 2007 Mar;19(3):225-8

The Contribution of the DLG5 113A Variant in Early-Onset Inflammatory Bowel Disease
Russell RK, et al.
J Pediatr 2007 Mar;150(3):268-73

Different HLA class II associations in ulcerative colitis patients with and without primary sclerosing cholangitis
Karlsen TH, et al.
Genes Immun 2007 Feb

GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese
Lee YC, et al.
J Gastroenterol Hepatol 2007 Feb;22(2):227-33

Cytochrome P450 2C19 polymorphism influences the preventive effect of lansoprazole on the recurrence of erosive reflux esophagitis
Kawamura M, et al.
J Gastroenterol Hepatol 2007 Feb;22(2):222-6

Polymorphisms of TLR4 but not CD14 are associated with a decreased risk of aggressive periodontitis
James JA, et al.
J Clin Periodontol 2007 Feb;34(2):111-7

IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease
Dubinsky MC, et al.
Inflamm Bowel Dis 2007 Feb

Genetic polymorphisms of mannan binding lectin (MBL), serum levels of MBL, the MBL associated serine protease and H-ficolin in patients with Crohn's disease
Nielsen RG, et al.
Gut 2007 Feb;56(2):311-2

 

Diseases of the Genitourinary System

Interleukin-8 and CXCR1 receptor functional polymorphisms and susceptibility to acute pyelonephritis
Artifoni L, et al.
J Urol 2007 Mar;177(3):1102-6

Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men
Zhang W, et al.
Reproduction 2007 Feb;133(2):511-6

Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis
Bonache S, et al.
Int J Androl 2007 Feb

Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1
Tazon-Vega B, et al.
Nephrol Dial Transplant 2007 Feb

 

Diseases of the Musculoskeletal System and Connective Tissue

Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families
Jiang H, et al.
Acta Pharmacol Sin 2007 Mar;28(3):375-81

Influence of HLA-DRB1 Genes and the Shared Epitope on Genetic Susceptibility to Rheumatoid Arthritis in Taiwanese
Liu SC, et al.
J Rheumatol 2007 Feb

Association of a single-nucleotide variation (A1330V) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) with bone mineral density in adult Japanese women
Ezura Y, et al.
Bone 2007 Feb

Interaction Between Birthweight and Polymorphism in the Calcium-Sensing Receptor Gene in Determination of Adult Bone Mass: The Hertfordshire Cohort Study
Lips MA, et al.
J Rheumatol 2007 Feb

Role of APRIL (TNFSF13) polymorphisms in the susceptibility to systemic lupus erythematosus in Japanese
Kawasaki A, et al.
Rheumatology (Oxford) 2007 Feb

 

Certain Conditions Originating in the Perinatal Period

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
Au KS, et al.
Genet Med 2007 Feb;9(2):88-100

 

Injury and Poisoning

CD14-159 C ALLELE IS ASSOCIATED WITH INCREASED RISK OF MORTALITY AFTER BURN INJURY
Barber RC, et al.
Shock 2007 Mar;27(3):232-7

 

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Page last reviewed: February 22, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics