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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
September 4, 2008
Volume 21, No. 10

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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

HLA-A, -B and -DRB1 allele frequencies in the Bangladeshi population
Ali ME, et al.
Tissue Antigens 2008 Aug;72(2):115-9

Cytochrome P450 2J2*7 polymorphisms in Japanese, Mongolians and Ovambos
Takeshita H, et al.
Cell Biochem Funct 2008 Aug

 

Infectious and Parasitic Diseases

Genetic polymorphisms differently influencing the emergence of atrophy and fat accumulation in HIV-related lipodystrophy
Zanone Poma B, et al.
AIDS 2008 Sep;22(14):1769-78

Association of human leukocyte antigen polymorphism with outcomes of hepatitis B  virus infection
Ramezani A, et al.
J Gastroenterol Hepatol 2008 Aug

Sickle Cell Trait is Associated with a Delayed Onset of Malaria: Implications for Time-to-Event Analysis in Clinical Studies of Malaria
Crompton PD, et al.
J Infect Dis 2008 Aug

Polymorphism of codon25 in signal peptide region of transforming growth factor beta 1 and its association with chronic hepatitis C virus infection
Fang J, et al.
Zhonghua Gan Zang Bing Za Zhi 2008 Aug;16(8):586-9

 

Neoplasms

Role of hormonal genes and risk of prostate cancer: gene-gene interactions in a North Indian population
Sobti RC, et al.
Cancer Genet Cytogenet 2008 Sep;185(2):78-85

Liver-only metastatic colorectal cancer patients and thymidylate synthase polymorphisms for predicting response to 5-fluorouracil-based chemotherapy
Graziano F, et al.
Br J Cancer 2008 Sep;99(5):716-21

CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women
Ye Y, et al.
J Assist Reprod Genet 2008 Sep

No association between epidermal growth factor and epidermal growth factor receptor polymorphisms and nasopharyngeal carcinoma
Gao LB, et al.
Cancer Genet Cytogenet 2008 Sep;185(2):69-73

RET/PTC Rearrangements Preferentially Occurred in Papillary Thyroid Cancer among  Atomic Bomb Survivors Exposed to High Radiation Dose
Hamatani K, et al.
Cancer Res 2008 Sep;68(17):7176-82

NOD2/CARD15 polymorphism in patients with rectal cancer
Szeliga J, et al.
Med Sci Monit 2008 Sep;14(9):CR480-4

p53 codon 72 polymorphism and HPV status in lung cancer
Buyru N, et al.
Med Sci Monit 2008 Sep;14(9):CR493-7

Association of FGFR4 genetic polymorphisms with prostate cancer risk and prognosis
Fitzgerald LM, et al.
Prostate Cancer Prostatic Dis 2008 Sep

Functional genetic variations in cytotoxic T-lymphocyte antigen 4 and susceptibility to multiple types of cancer
Sun T, et al.
Cancer Res 2008 Sep;68(17):7025-34

Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients
Mann A, et al.
Eur J Cancer 2008 Aug

[Association of single nucleotide polymorphism at interleukin-10 gene 1082 nt with the risk of gastric cancer in Chinese population.]
Zhou SZ, et al.
Nan Fang Yi Ke Da Xue Xue Bao 2008 Aug;28(8):1335-8

Association of genetic polymorphisms at 8q24 with the risk of prostate cancer in  a Japanese population
Terada N, et al.
Prostate 2008 Aug

Contribution of BRCA1 germline mutation in patients with sporadic breast cancer
Malik FA, et al.
Int Semin Surg Oncol 2008 Aug;5(1):21

The Influence of HER2 Genotypes as Molecular Markers on Breast Cancer Outcome
Mutluhan H, et al.
DNA Cell Biol 2008 Aug

Polymorphisms of alcohol dehydrogenase 2 and aldehyde dehydrogenase 2 and colorectal cancer risk in Chinese males
Gao CM, et al.
World J Gastroenterol 2008 Aug;14(32):5078-83

Interaction between polymorphisms of the Human Leukocyte Antigen and HPV-16 Variants on the risk of invasive cervical cancer
de Araujo Souza PS, et al.
BMC Cancer 2008 Aug;8(1):246

CHEK2 1100delC and male breast cancer in the Netherlands
Wasielewski M, et al.
Breast Cancer Res Treat 2008 Aug

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
Pittman AM, et al.
Hum Mol Genet 2008 Aug

Polymorphisms of interleukin-1 and interleukin-2 genes in patients with gastric cancer in Korea
Shin WG, et al.
J Gastroenterol Hepatol 2008 Aug

HLA-G polymorphism and transitional cell carcinoma of the bladder in a Brazilian  population
Castelli EC, et al.
Tissue Antigens 2008 Aug;72(2):149-57

Thymidylate synthase genotypes and tumour regression in stage II/III rectal cancer patients after neoadjuvant fluorouracil-based chemoradiation
Stoehlmacher J, et al.
Cancer Lett 2008 Aug

Genetic variation in the toll-like receptor gene cluster (TLR10-TLR1-TLR6) and prostate cancer risk
Stevens VL, et al.
Int J Cancer 2008 Aug

Polymorphisms of fibroblast growth factor receptor 4 have association with the development of prostate cancer and benign prostatic hyperplasia and the progression of prostate cancer in a Japanese population
Ma Z, et al.
Int J Cancer 2008 Aug

Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12
Sun J, et al.
Nat Genet 2008 Aug

Clinical significance of GSTM1 and GSTT1 polymorphisms in younger patients with acute myeloid leukemia of intermediate-risk cytogenetics
Lee HS, et al.
Leuk Res 2008 Aug

Apoptosis gene polymorphisms, age, smoking and the risk of non-small cell lung cancer
Ter-Minassian M, et al.
Carcinogenesis 2008 Aug

Human leukocyte antigen class II allele association to disease progression in Iranian patients with chronic lymphocytic leukemia
Hojjat-Farsangi M, et al.
Hum Immunol 2008 Aug

 

Endocrine, Nutritional and Metabolic Diseases

CTLA4 Gene Polymorphisms in Children and Adolescents with Autoimmune Thyroid Diseases
Yesilkaya E, et al.
Genet Test 2008 Sep;12(3):461-4

Microsatellite polymorphism of the human leptin gene and risk of obesity
Gardezi AZ, et al.
J Crit Care 2008 Sep;23(3):440-4

Polymorphism of glutathione S-transferases as genetic risk factors for the development of complications in type 2 diabetes mellitus
Hossaini AM, et al.
J Crit Care 2008 Sep;23(3):444-8

The L162V Polymorphism of the Peroxisome Proliferator Activated Receptor Alpha Gene (PPARA) is not Associated with Type 2 Diabetes, BMI or Body Fat Composition
Silbernagel G, et al.
Exp Clin Endocrinol Diabetes 2008 Aug

Population-specific risk of type 2 diabetes (T2D) conferred by HNF4A P2 promoter  variants: a lesson for replication studies
Barroso I, et al.
Diabetes 2008 Aug

Vaspin (SERPINA12) Genotypes and Risk of Type 2 Diabetes: Results from the MONICA/KORA studies
Kempf K, et al.
Exp Clin Endocrinol Diabetes 2008 Aug

Association between CAPN10 UCSNP-43 gene polymorphism and polycystic ovary syndrome in Chilean women
Marquez JL, et al.
Clin Chim Acta 2008 Aug

Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes
Chistiakov DA, et al.
Acta Diabetol 2008 Aug

Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity
Johansson L, et al.
Eur J Endocrinol 2008 Aug

FEM1A and FEM1B: novel candidate genes for polycystic ovary syndrome
Goodarzi MO, et al.
Hum Reprod 2008 Aug

Associations between polymorphisms in the mitochondrial uncoupling proteins (UCPs) with T2DM
Lee HJ, et al.
Clin Chim Acta 2008 Aug

CYP3A53A allele is associated with reduced lowering-lipid response to atorvastatin in individuals with hypercholesterolemia
Willrich MA, et al.
Clin Chim Acta 2008 Aug

LRP5 in premature adrenarche and in metabolic characteristics of prepubertal children
Lappalainen S, et al.
Clin Endocrinol (Oxf) 2008 Aug

Association of CD40 Gene and Thyroglobulin Gene with later-onset Graves disease in Taiwanese
Hsiao JY, et al.
Eur J Endocrinol 2008 Aug

 

Diseases of the Blood & Blood-Forming Organ Disorders

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified  in iron metabolism-related genes
Mendes AI, et al.
Ann Hematol 2008 Sep

 

Mental Disorders

Genetic association analysis of tagging SNPs in alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes (CHRNA4 and CHRNB2) with schizophrenia in the Japanese population
Kishi T, et al.
J Neural Transm 2008 Sep

Association analysis of Rgs7 variants with panic disorder
Hohoff C, et al.
J Neural Transm 2008 Sep

Gender-dependent Association of a Functional NGF Polymorphism with Anxiety-related Personality Traits
Lang UE, et al.
Pharmacopsychiatry 2008 Sep;41(5):196-9

Positive association between SAT-1 -1415T/C polymorphism and anxiety
Vaquero-Lorenzo C, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Aug

Interaction between gene variants of the serotonin transporter promoter region (5-HTTLPR) and catechol O-methyltransferase (COMT) in borderline personality disorder
Tadic A, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Aug

The Role of GABRA2 in Alcohol Dependence, Smoking, and Illicit Drug Use in an Australian Population Sample
Lind PA, et al.
Alcohol Clin Exp Res 2008 Aug

An association study of ADSS gene polymorphisms with schizophrenia
Zhang F, et al.
Behav Brain Funct 2008 Aug;4(1):39

The psychology of psychiatric genetics: Evidence that positive emotions in females moderate genetic sensitivity to social stress associated with the BDNF Val-sup-6-sup-6Met polymorphism
Wichers M, et al.
J Abnorm Psychol 2008 Aug;117(3):699-704

COMT genetic variation affects fear processing: psychophysiological evidence
Montag C, et al.
Behav Neurosci 2008 Aug;122(4):901-9

 

Diseases of the Nervous System and Sense Organs

The apolipoprotein E epsilon4 allele is not associated with cognitive dysfunction in cardiac surgery
Silbert BS, et al.
Ann Thorac Surg 2008 Sep;86(3):841-7

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease
Ross OA, et al.
Parkinsonism Relat Disord 2008 Aug

LRP-associated protein gene (LRPAP1) and susceptibility to degenerative dementia
Pandey P, et al.
Genes Brain Behav 2008 Aug

The val(158)met COMT polymorphism's effect on atrophy in healthy aging and Parkinson's disease
Rowe JB, et al.
Neurobiol Aging 2008 Aug

Effect of COMT val(158)met genotype on cognition and personality
Sheldrick AJ, et al.
Eur Psychiatry 2008 Aug

Lack of evidence to support the glyoxalase 1 gene (GLO1) as a risk gene of autism in Han Chinese patients from Taiwan
Wu YY, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2008 Aug

Differential association between MAOA, ADHD and neuropsychological functioning in boys and girls
Rommelse NN, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Aug

Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients
Otaegui D, et al.
Mult Scler 2008 Aug

Coffee, caffeine-related genes, and Parkinson's disease: A case-control study
Facheris MF, et al.
Mov Disord 2008 Aug

Analysis of HLA DR2&DQ6 (DRB1*1501, DQA1*0102, DQB1*0602) Haplotypes in Iranian Patients with Multiple Sclerosis
Ghabaee M, et al.
Cell Mol Neurobiol 2008 Aug

The T244I variant of the interleukin-7 receptor-alpha gene and multiple sclerosis
Alcina A, et al.
Tissue Antigens 2008 Aug;72(2):158-61

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders
Liu X, et al.
Eur J Hum Genet 2008 Aug

 

Diseases of the Circulatory System

Association of beta-fibrinogen gene -148C/T and -455G/A polymorphisms and coronary artery disease in Chinese population: A Meta analysis
Chen X, et al.
Sci China C Life Sci 2008 Sep;51(9):814-20

Variants in the nestin gene and coronary heart disease
Meng W, et al.
Circ J 2008 Sep;72(9):1538-9

Association of cys 311 ser polymorphism of paraoxonase-2 gene with the risk of coronary artery disease
Jalilian A, et al.
Arch Iran Med 2008 Sep;11(5):544-9

Endothelial protein C receptor polymorphisms and risk of myocardial infarction
Medina P, et al.
Haematologica 2008 Sep;93(9):1358-63

Polymorphisms of the matrix metalloproteinase 9 gene and abdominal aortic aneurysm
Smallwood L, et al.
Br J Surg 2008 Sep;95(10):1239-44

Mutation Analysis of the Glycerol-3 Phosphate Dehydrogenase-1 Like (GPD1L) Gene in Japanese Patients With Brugada Syndrome
Makiyama T, et al.
Circ J 2008 Sep

Absence of TGFBR1 and TGFBR2 Mutations in Patients With Bicuspid Aortic Valve and Aortic Dilation
Arrington CB, et al.
Am J Cardiol 2008 Sep;102(5):629-31

Sex differences in environmental and genetic factors for hypertension
Ruixing Y, et al.
Am J Med 2008 Sep;121(9):811-9

Associations Between Single Nucleotide Polymorphisms on Chromosome 9p21 and Risk  of Coronary Heart Disease in Chinese Han Population
Zhou L, et al.
Arterioscler Thromb Vasc Biol 2008 Aug

Angiotensin-converting enzyme polymorphisms and risk of spontaneous deep intracranial hemorrhage in Taiwan
Chen CM, et al.
Eur J Neurol 2008 Aug

Polymorphisms of EDNRB, ATG, and ACE genes in salt-sensitive hypertension
Caprioli J, et al.
Can J Physiol Pharmacol 2008 Aug;86(8):505-10

Association of PARL rs3732581 genetic variant with insulin levels, metabolic syndrome and coronary artery disease
Powell BL, et al.
Hum Genet 2008 Aug

[Relationship of angiotensin-converting enzyme 2 gene polymorphisms and vulnerability to coronary heart disease in patients with type 2 diabetes mellitus.]
Yan QN, et al.
Nan Fang Yi Ke Da Xue Xue Bao 2008 Aug;28(8):1365-8

 

Diseases of the Respiratory System

Proinflammatory Cytokine Gene Polymorphisms among Iranian Patients with Asthma
Mahdaviani SA, et al.
J Clin Immunol 2008 Sep

Lung Function Response to 12-week Treatment with Combined Inhalation of Long-acting beta(2) Agonist and Glucocorticoid According to ADRB2 Polymorphism in Patients with Chronic Obstructive Pulmonary Disease
Kim WJ, et al.
Lung 2008 Aug

Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD
Sitkauskiene B, et al.
Respir Med 2008 Aug

Mannose-Binding Lectin Concentrations, MBL2 Polymorphisms, and Susceptibility to  Respiratory Tract Infections in Young Men
Rantala A, et al.
J Infect Dis 2008 Aug

Association of angiotensin I-converting enzyme gene polymorphisms with aspirin intolerance in asthmatics
Kim TH, et al.
Clin Exp Allergy 2008 Aug

Association of ADAM33 gene polymorphisms with adult concomitant allergic rhinitis and asthma in Chinese Han population
Zhang X, et al.
Mol Biol Rep 2008 Aug

 

Diseases of the Digestive System

Polymorphisms of the macrophage inflammatory protein 1 alpha and ApoE genes are associated with ulcerative colitis
Li K, et al.
Int J Colorectal Dis 2008 Sep

Impact of serotonin transporter and catechol-O-methyl transferase genes polymorphism on gastrointestinal dysfunction in Swedish and Japanese familial amyloidotic polyneuropathy patients
Obayashi K, et al.
Clin Chim Acta 2008 Aug

TLR4 single-nucleotide polymorphisms alter mucosal cytokine and chemokine patterns in Mexican patients with Helicobacter pylori-associated gastroduodenal diseases
Trejo-de la O A, et al.
Clin Immunol 2008 Aug

The broad effects of the functional IL-10 promoter-592 polymorphism: modulation of IL-10, TIMP-3, and OPG expression and their association with periodontal disease outcome
Claudino M, et al.
J Leukoc Biol 2008 Aug

A preliminary investigation of the association between haptoglobin polymorphism,  serum ferritin concentration and fatty liver disease
Nakagawa T, et al.
Clin Chim Acta 2008 Aug

Association of vitamin D receptor gene polymorphisms in Iranian patients with inflammatory bowel disease
Naderi N, et al.
J Gastroenterol Hepatol 2008 Aug

Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population
Fiebig A, et al.
Genomics 2008 Aug

UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia
Carpenter SL, et al.
Am J Hematol 2008 Aug

OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease
Li M, et al.
World J Gastroenterol 2008 Aug;14(31):4923-7


Diseases of the Genitourinary System

ABCB1 G2677 Allele Is Associated with High Dose Requirement of Cyclosporin A to Prevent Renal Allograft Rejection in North India
Singh R, et al.
Arch Med Res 2008 Oct;39(7):695-701

Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as a cause of diabetic nephropathy in type 1 diabetes: results of large case-control and follow-up studies
Wanic K, et al.
Diabetes 2008 Sep;57(9):2547-51

Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse
Chen HY, et al.
Int J Gynaecol Obstet 2008 Aug

Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy  in the GoKinD study population
Greene CN, et al.

Hum Genet 2008 Aug

 

Complications of Pregnancy, Childbirth, and the Puerperium

Toll Receptor 4 Asp299Gly Polymorphism and its association with Preterm Birth and Premature Rupture of Membranes in a South American population
Rey G, et al.
Mol Hum Reprod 2008 Aug

Maternal and Neonatal Interleukin-1 Receptor Antagonist Genotype and Pregnancy Outcome in a Population with a High Rate of Pre-term Birth
Chaves JH, et al.
Am J Reprod Immunol 2008 Aug

Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis
Dudding T, et al.
J Thromb Haemost 2008 Aug

Correlation of angiotensin converting enzyme activity and the genotypes of the I/D polymorphism in the ACE gene with preterm birth and birth weight
Uma R, et al.
Eur J Obstet Gynecol Reprod Biol 2008 Aug

Paternal Thrombophilic Gene Mutations Are Not Associated with Recurrent Miscarriage
Toth B, et al.
Am J Reprod Immunol 2008 Aug

Progesterone receptor gene polymorphisms are not associated with preterm birth in a Hispanic population
Diaz-Cueto L, et al.
Int J Gynaecol Obstet 2008 Aug

 

Diseases of the Musculoskeletal System and Connective Tissue

A polymorphism in the human serotonin 5-HT2A receptor gene may protect against systemic sclerosis by reducing platelet aggregation
Beretta L, et al.
Arthritis Res Ther 2008 Sep;10(5):R103

Evidence of epistasis between Interleukin-1 and Selenoprotein-S with susceptibility to RA
Marinou I, et al.
Ann Rheum Dis 2008 Aug

ACTN3 Genotype is Associated with Muscle Phenotypes in Women across the Adult Age Span
Walsh S, et al.
J Appl Physiol 2008 Aug

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men
Chu K, et al.
Bone 2008 Aug

Association of allograft inflammatory factor-1 gene polymorphism with rheumatoid  arthritis
Pawlik A, et al.
Tissue Antigens 2008 Aug;72(2):171-5

Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases
Martinez A, et al.
Arthritis Rheum 2008 Aug;58(9):2598-602

The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels  in patients with lupus
Kariuki SN, et al.
Arthritis Rheum 2008 Aug;58(9):2818-23

Replication of the tumor necrosis factor receptor-associated factor 1/complement  component 5 region as a susceptibility locus for rheumatoid arthritis in a European family-based study
Kurreeman FA, et al.
Arthritis Rheum 2008 Aug;58(9):2670-4

Association of IRF5 gene polymorphisms with rheumatoid arthritis in a Tunisian population
Maalej A, et al.
Scand J Rheumatol 2008 Aug:1-5

Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density
Sogabe N, et al.
Biomed Res 2008 Aug;29(4):213-9

Interaction of interleukin-6 and estrogen receptor gene polymorphisms on bone mass accrual in Chinese adolescent girls
Xing L, et al.
J Bone Miner Metab 2008;26(5):493-8

 

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Page last reviewed: September 4, 2008 (archived document)
Content Source: National Office of Public Health Genomics