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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
September 7, 2006
Volume 17, No. 10

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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

Intra- and Inter-ethnic Differences in the Allele Frequencies of Cytochrome P450 2B6 Gene in Chinese
Guan S, et al.
Pharm Res 2006 Sep;23(9):1983-90

Three novel single nucleotide polymorphisms of the human thiopurine s-methyltransferase gene in Japanese individuals
Sasaki T, et al.
Drug Metab Pharmacokinet 2006 Aug;21(4):332-6

XRCC1 Arg399Gln Genetic Polymorphism in a Turkish Population
Kocabas NA & Karahalil B
Int J Toxicol 2006 Sep-2006 Oct;25(5):419-22

Amylin S20G mutation in Mexican population
Garcia-Gonzalez CL, et al.
Diabetes Res Clin Pract 2006 Sep

CYP2C19 Genetic Polymorphism in Thai, Burmese and Karen Populations
Tassaneeyakul W, et al.
Drug Metab Pharmacokinet 2006 Aug;21(4):286-90

 

Infectious and Parasitic Diseases

MICA*008/A5.1 allele and HCMV infection in kidney transplanted donees of Hunan Han nationality
Huang BS, et al.
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2006 Aug;31(4):479-82

Cytokine gene polymorphisms and susceptibility to cutaneous leishmaniasis in Iranian patients
Kamali-Sarvestani E, et al.
Cytokine 2006 Sep

Gender susceptibility to chronic hepatitis C virus infection associated with interleukin 10 promoter polymorphism
Paladino N, et al.
J Virol 2006 Sep;80(18):9144-50

           

 

Neoplasms

MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease
Pinto C, et al.
Br J Cancer 2006 Aug

Role of MTHFR polymorphisms and folate levels in different phenotypes of sporadic colorectal cancers
Chang SC, et al.
Int J Colorectal Dis 2006 Aug

GenexGene interaction between MnSOD and GPX-1 and breast cancer risk: a nested case-control study
Cox DG, et al.
BMC Cancer 2006 Aug;6(1):217

Clinical impact of MMP and TIMP gene polymorphisms in gastric cancer
Kubben FJ, et al.
Br J Cancer 2006 Aug

Polymorphisms in the MTHFR and VDR genes and skin cancer risk
Han J, et al.
Carcinogenesis 2006 Aug

The Association Between Polymorphisms in Glutathione S-Transferase (GSTM1 and GSTT1) and Lung Cancer Outcome
Gonlugur U, et al.
Cancer Invest 2006 Aug;24(5):497-501

Association of p73 G4C14-to-A4T14 (GC/AT) polymorphism with breast cancer survival
Li H, et al.
Carcinogenesis 2006 Aug

 

Endocrine, Nutritional and Metabolic Diseases

The K121Q Polymorphism of the Plasma Cell Glycoprotein-1 Gene is not Associated with Diabetes Mellitus Type 2 in German Caucasians
Gouni-Berthold I, et al.
Horm Metab Res 2006 Aug;38(8):524-9

ApoE Polymorphism Is Associated With C-Reactive Protein in Low-HDL Family Members and in Normolipidemic Subjects
Kahri J, et al.
Mediators Inflamm 2006;2006(3):12587

Endogenous estradiol and its association with estrogen receptor gene polymorphisms
Sowers MR, et al.
Am J Med 2006 Sep;119(9 Suppl 1):S16-22

Aromatase gene (CYP 19) polymorphisms and endogenous androgen concentrations in a multiracial/multiethnic, multisite study of women at midlife
Sowers MR, et al.
Am J Med 2006 Sep;119(9 Suppl 1):S23-30

Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women's Health Across the Nation (SWAN)
Sowers MR, et al.
Am J Med 2006 Sep;119(9 Suppl 1):S61-8

Association between farm exposure and atopy, according to the CD14 C-159T polymorphism
Leynaert B, et al.
J Allergy Clin Immunol 2006 Sep;118(3):658-65

The association of genetic polymorphisms in sex hormone biosynthesis and action with insulin sensitivity and diabetes mellitus in women at midlife
Lo JC, et al.
Am J Med 2006 Sep;119(9 Suppl 1):S69-78

Association between PON 1 polymorphisms, PON activity and diabetes complications
Hofer SE, et al.
J Diabetes Complications 2006 Sep-2006 Oct;20(5):322-8

PPAR-{gamma}2 Pro12Ala Variant, Insulin Resistance and Plasma Long-chain Polyunsaturated Fatty Acids in Childhood Obesity
Scaglioni S, et al.
Pediatr Res 2006 Aug

Associations of a novel IL4RA polymorphism, Ala57Thr, in Greenlander Inuit
Khoo SK, et al.
J Allergy Clin Immunol 2006 Sep;118(3):627-34

CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal
Sowers MR, et al.
Am J Med 2006 Sep;119(9 Suppl 1):S44-51

Analysis of a missense variant of the human N-formyl peptide receptor that is associated with agonist-independent beta-arrestin association and indices of inflammation
Bhattacharya M, et al.
Pharmacogenomics J 2006 Sep

Features of the metabolic syndrome are modulated by an interaction between the peroxisome proliferator-activated receptor-delta -87T>C polymorphism and dietary fat in French-Canadians
Robitaille J, et al.
Int J Obes (Lond) 2006 Sep

 

Mental Disorders

GABRB2 Association with Schizophrenia: Commonalities and Differences Between Ethnic Groups and Clinical Subtypes
Lo WS, et al.
Biol Psychiatry 2006 Aug

Association of THR105Ile, a functional polymorphism of histamine N-methyltransferase (HNMT), with alcoholism in German Caucasians
Reuter M, et al.
Drug Alcohol Depend 2006 Sep

Association of a Triallelic Serotonin Transporter Gene Promoter Region (5-HTTLPR) Polymorphism With Stressful Life Events and Severity of Depression
Zalsman G, et al.
Am J Psychiatry 2006 Sep;163(9):1588-93

Novelty Seeking Involved in Mediating the Association Between the Dopamine D4 Receptor Gene Exon III Polymorphism and Heavy Drinking in Male Adolescents: Results from a High-Risk Community Sample
Laucht M, et al.
Biol Psychiatry 2006 Aug

The effect of polymorphism at the serotonin transporter gene on decision-making, memory and executive function in ecstasy users and controls
Roiser JP, et al.
Psychopharmacology (Berl) 2006 Aug

Effect of the catechol-O-methyltransferase valmet genotype on children's early phases of facial stimuli processing
Battaglia M, et al.
Genes Brain Behav 2006 Aug

Alcohol dependence is associated with the ZNF699 gene, a human locus related to Drosophila hangover, in the Irish affected sib pair study of alcohol dependence (IASPSAD) sample
Riley BP, et al.
Mol Psychiatry 2006 Aug

Association of the dysbindin gene with bipolar affective disorder
Breen G, et al.
Am J Psychiatry 2006 Sep;163(9):1636-8

Association between polymorphisms in serotonin transporter gene and attention deficit hyperactivity disorder in Chinese Han subjects
Li J, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Aug

           

 

Diseases of the Nervous System and Sense Organs

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
Gass J, et al.
Hum Mol Genet 2006 Sep

The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor
Deng H, et al.
Neurosci Lett 2006 Aug

CACNA1I Is Not Associated With Childhood Absence Epilepsy in the Chinese Han Population
Wang J, et al.
Pediatr Neurol 2006 Sep;35(3):187-90

Association of ABCB1 genotypes with paclitaxel-mediated peripheral neuropathy and neutropenia
Sissung TM, et al.
Eur J Cancer 2006 Sep

VEGF Polymorphisms are Associated with Neovascular Age-related Macular Degeneration
Churchill AJ, et al.
Hum Mol Genet 2006 Aug

Prefrontal-Hippocampal Coupling During Memory Processing Is Modulated by COMT Val158Met Genotype
Bertolino A, et al.
Biol Psychiatry 2006 Aug

A common variant in the ACE gene is associated with peripheral neuropathy in women with type 2 diabetes mellitus
Stephens JW, et al.
J Diabetes Complications 2006 Sep-2006 Oct;20(5):317-21

Case-control study of UCHL1 S18Y variant in Parkinson's disease
Tan EK, et al.
Mov Disord 2006 Aug

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia
Rizzu P, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Aug

Reelin gene polymorphisms in the Indian population: A possible paternal 5'UTR-CGG-repeat-allele effect on autism
Dutta S, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Aug

Human leucocyte antigen class II polymorphism in Irish patients with multiple sclerosis
Dunne C, et al.
Tissue Antigens 2006 Sep;68(3):257-62

Cerebrovascular disease, APOE epsilon4 allele and cognitive decline in a cognitively normal population
Qiu C, et al.
Neurol Res 2006 Sep;28(6):650-6

Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population
Albani D, et al.
Neurobiol Aging 2006 Sep

SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
Corrado L, et al.
Neuromuscul Disord 2006 Sep

 

Diseases of the Circulatory System

Endothelial NO Synthase Gene Polymorphisms and Hypertension. A Meta-Analysis
Zintzaras E, et al.
Hypertension 2006 Aug

MEF2A gene and susceptibility to coronary artery disease in the Chinese people
Yuan H, et al.
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2006 Aug;31(4):453-7

Codon 54 polymorphism of the fatty acid binding protein (FABP) 2 gene is associated with increased cardiovascular risk in the dyslipidemic diabetic participants of the veterans affairs HDL intervention trial (VA-HIT)
Georgopoulos A, et al.
Atherosclerosis 2006 Aug

Polymorphism of SG13S114T/A in the ALOX5AP gene and the risk for stroke in a large Chinese cohort
Zhang WL, et al.
Yi Chuan Xue Bao 2006 Aug;33(8):678-84

Polymorphism in the Angiotensinogen Gene, Hypertension, and Ethnic Differences in the Risk of Recurrent Coronary Events
Goldenberg I, et al.
Hypertension 2006 Aug

Haplotypes of the plasminogen activator gene associated with ischemic stroke
Saito K, et al.
Thromb Haemost 2006 Sep;96(3):331-6

Involvement of -308 TNF-alpha and 1267 Hsp70-2 polymorphisms and zinc status in the susceptibility of coronary artery disease (CAD) in old patients
Giacconi R, et al.
Biogerontology 2006 Sep

 

Diseases of the Respiratory System

Polymorphism of the CD14 gene in perennial allergic rhinitis
Kang HJ, et al.
Int J Pediatr Otorhinolaryngol 2006 Aug

beta(2)-adrenergic receptor polymorphisms are associated with asthma and COPD in adults
Matheson MC, et al.
J Hum Genet 2006 Sep

 

Diseases of the Digestive System

Assessment of Single Nucleotide Polymorphism at IL-1A+4845 and IL-1B+3954 as Genetic Susceptibility Test for Chronic Periodontitis in Maharashtrian Ethnicity
Agrawal AA, et al.
J Periodontol 2006 Sep;77(9):1515-21

Association analysis of MYO9B gene polymorphisms and inflammatory bowel disease in a Norwegian cohort
Amundsen SS, et al.
Tissue Antigens 2006 Sep;68(3):249-52

Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease
Schafmayer C, et al.
Hepatology 2006 Aug;44(3):650-7

HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: A large-scale study
Donaldson PT, et al.
Hepatology 2006 Aug;44(3):667-74

Association of Matrix Metalloproteinase-9 Promoter Gene Polymorphism With Chronic Periodontitis
Keles GC, et al.
J Periodontol 2006 Sep;77(9):1510-4

Interleukin-10 Haplotype Frequencies in Children With Gingivitis
Dashash M, et al.
J Periodontol 2006 Sep;77(9):1503-9

TNFalpha genotype influences development of IgA-ASCA antibodies in Crohn's disease patients with CARD15 wild type
Castro-Santos P, et al.
Clin Immunol 2006 Sep

Polymorphisms in the steroid and xenobiotic receptor gene influence survival in primary sclerosing cholangitis
Karlsen TH, et al.
Gastroenterology 2006 Sep;131(3):781-7

 

Diseases of the Genitourinary System

Association of tumor necrosis factors-beta gene polymorphism with endometriosis in women in Guangdong Province
Luo M, et al.
Nan Fang Yi Ke Da Xue Xue Bao 2006 Aug;26(8):1163-5

Matrix Metalloproteinase-1 Gene Polymorphism in Renal Transplant Patients With and Without Gingival Enlargement
Kurzawski M, et al.
J Periodontol 2006 Sep;77(9):1498-502

Endothelial nitric oxide synthase gene intron 4 a/b VNTR polymorphism in children with APSGN
Dursun H, et al.
Pediatr Nephrol 2006 Aug

 

Complications of Pregnancy, Childbirth, and the Puerperium

Paraoxonase gene polymorphism, serum lipid, and oxidized low-density lipoprotein in preeclampsia
Kim YJ, et al.
Eur J Obstet Gynecol Reprod Biol 2006 Aug

 

Diseases of the Skin and Subcutaneous Tissue

Genetic Association Studies between the T Cell Immunoglobulin Mucin (TIM) Gene Locus and Childhood Atopic Dermatitis
Page NS, et al.
Int Arch Allergy Immunol 2006 Aug;141(4):331-6

 

Diseases of the Musculoskeletal System and Connective Tissue

The association of bone mineral density with estrogen receptor gene polymorphisms
Greendale GA, et al.
Am J Med 2006 Sep;119(9 Suppl 1):S79-86

Association of HLA-C3 and smoking with vasculitis in patients with rheumatoid arthritis
Turesson C, et al.
Arthritis Rheum 2006 Aug;54(9):2776-83

Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis
Wessels JA, et al.
Arthritis Rheum 2006 Aug;54(9):2830-9

No associations between OPG gene polymorphisms or serum levels and measures of osteoporosis in elderly Australian women
Ueland T, et al.
Bone 2006 Aug

Estrogen Receptor beta (ESR2) Polymorphisms in Interaction With Estrogen Receptor alpha (ESR1) and Insulin-Like Growth Factor I (IGF1) Variants Influence the Risk of Fracture in Postmenopausal Women
Rivadeneira F, et al.
J Bone Miner Res 2006 Sep;21(9):1443-56

Tumour necrosis factor alpha promoter polymorphisms and etanercept therapy in juvenile idiopathic arthritis
Schmeling H & Horneff G
Rheumatol Int 2006 Sep

No evidence for an association between the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene and fibromyalgia syndrome
Alasehirli B, et al.
Rheumatol Int 2006 Sep

 

Congenital Anomalies

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
Beaty TH, et al.
Hum Genet 2006 Sep

 

Injury and Poisoning

Dipsogenic genes associated with weight changes during ironman triathlons
Saunders CJ, et al.
Hum Mol 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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