Frequency of CYP1A1*2A polymorphisms and deletion of the GSMT1 gene in a Peruvian mestizo population

The polymorphic variants of CYP1A1 and the deletion of GSTM1 are present in the Peruvian mestizo population. Wild type and mutated genotypes (WT/*2A and *2A/ *2A) were identified, whose allele frequencies are 0.31 (T allele) and 0.69 (C allele), respectively; 53% with wild type GSTM1 (+) and 47% with null GSTM1. The frequency in Iquiteño emigrants was 0.72 CYP1A1*2A and 25% GSTM1 (-); from Lima 0.67 CYP1A1*2A and 33% of GSTM1 (-). The Hardy-Weinberg equilibrium test for the studied population showed that both frequencies are out of balance, p > .05. The presence of the risk allele of the CYP1A1*2A polymorphism and the deletion in the GSTM1 gene are high, which could be indicative of a phase I and II metabolic imbalance in this group of Peruvian populations, with potential risks of activating agents procarcinogens thus affecting the incidence of tumor pathologies with an environmental component.

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Frequency of CYP2D63 and 4 and metabolizer phenotypes in three mestizo Peruvian populations

Pharmacia ◽

10.3897/pharmacia.68.e75165 ◽

2021 ◽

Vol 68 (4) ◽

pp. 891-898

Author(s):

Angel T. Alvarado ◽

Roberto Ybañez-Julca ◽

Ana María Muñoz ◽

César Tejada-Bechi ◽

Roberto Cerro ◽

...

Keyword(s):

Clinical Practice ◽

Allele Frequency ◽

Latin American ◽

Metabolic Activity ◽

Wild Type ◽

Allelic Variants ◽

Population Evolution ◽

Hardy Weinberg Equilibrium ◽

Equilibrium Test ◽

Intermediate Metabolizers

Wild type genotypes (CYP2D6) and their allelic variants have been described in a sample of a Peruvian mestizo population. The global allele frequency was 0.015 for CYP2D6*3 and 0.051 for CYP2D6*4. The percentages of genotypes described were 97% CYP2D6*1/*1 and 3.0% CYP2D6*1/*3; 90.60% for CYP2D6*1/*1, 8.55% CYP2D6*1/*4 and 0.85% CYP2D6*4/*4. The allelic frequencies of CYP2D6*3 in the Lima subpopulations were 0.022 and 0.010 for Junin; CYP2D6*4 of 0.048, 0.060, and 0.050 for residents of Lima, Junín, and Tacna, respectively. The Hardy-Weinberg equilibrium test for the studied population showed that both frequencies are in equilibrium, p <.05. The metabolizer phenotype was inferred according to the genotypes: 11.54% were classified as intermediate metabolizers (*1/*3 or *1/*4) and 0.85% as poor metabolizers (*4/*4). It is concluded that the frequencies of the CYP2D6*3 and CYP2D6*4 alleles are low for the Peruvian mestizo population compared to the Latin American and tricontinental population, due to their natural population evolution, which is manifested by their decreased metabolic activity, the same that is relevant in clinical practice.

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Zoledronic acid in cancer patients with bone metastases: Results of Phase I and II trials

Seminars in Oncology ◽

10.1053/sonc.2001.24157 ◽

2001 ◽

Vol 28 (2C) ◽

pp. 25-34 ◽

Cited By ~ 1

Author(s):

James R. Berenson

Keyword(s):

Zoledronic Acid ◽

Phase I ◽

Bone Metastases ◽

Cancer Patients ◽

Phase I And Ii

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Evaluation of Dredged Material Disposal and Management for Appomattox River Federal Navigation Channel, Petersburg, Virginia. Phase I and II - Environmental and Engineering Studies

10.21236/ada408172 ◽

2002 ◽

Author(s):

Roy Wade ◽

Richard A. Price ◽

John W. Simmers ◽

Cynthia Price ◽

Michael R. Palermo

Keyword(s):

Phase I ◽

Dredged Material ◽

Engineering Studies ◽

Navigation Channel ◽

Dredged Material Disposal ◽

Phase I And Ii

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Phase I and II Archaeological Investigations at Shaw Air Force Base and the Poinsett Electronic Combat Range, Sumter County, South Carolina

10.21236/ada433130 ◽

2005 ◽

Author(s):

Alvin J. Banguilan ◽

John S. Cable ◽

Charles E. Cantley ◽

Leslie Raymer ◽

Victoria Dabir-Banguilan

Keyword(s):

South Carolina ◽

Phase I ◽

Air Force ◽

Air Force Base ◽

Phase I And Ii

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A 44-kb deleted-type copy number variation is associated with decreasing complement component activity and calf mortality in Japanese Black cattle

BMC Genomics ◽

10.1186/s12864-021-07415-6 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Shinji Sasaki ◽

Youko Miki ◽

Takayuki Ibi ◽

Hiroyuki Wakaguri ◽

Yuichi Yoshida ◽

...

Keyword(s):

Infectious Disease ◽

Copy Number Variation ◽

Copy Number ◽

Risk Allele ◽

Wild Type ◽

Japanese Black Cattle ◽

Complement Activity ◽

Categorical Trait ◽

Number Variation ◽

Calf Mortality

Abstract Background Calf mortality generally occurs in calves prior to weaning, which is a serious problem in cattle breeding. Several causative variants of monogenic Mendelian disorders in calf mortality have been identified, whereas genetic factors affecting the susceptibility of calves to death are not well known. To identify variants associated with calf mortality in Japanese Black cattle, we evaluated calf mortality as a categorical trait with a threshold model and performed a genome-wide copy number variation (CNV) association study on calf mortality. Results We identified a 44-kb deleted-type CNV ranging from 103,317,687 to 103,361,802 bp on chromosome 5, which was associated with the mortality of 1–180-day-old calves. The CNV harbored C1RL, a pseudogene, and an IncRNA localized in the C1R and C1S gene cluster, which is a component of the classical complement activation pathway for immune complexes for infectious pathogens. The average complement activity in CNVR_221 homozygotes at postnatal day 7 was significantly lower than that of wild-type animals and heterozygotes. The frequency of the risk allele in dead calves suffering from diarrhea and pneumonia and in healthy cows was 0.35 and 0.28, respectively (odds ratio = 2.2, P = 0.016), suggesting that CNVR_221 was associated with the mortality of Japanese Black calves suffering from an infectious disease. Conclusions This study identified a deleted-type CNV associated with the mortality of 1–180-day-old calves. The complement activity in CNVR_221 homozygotes was significantly lower than that in heterozygotes and wild type animals. The frequency of the risk allele was higher in dead calves suffering from an infectious disease than in healthy cows. These results suggest that the existence of CNVR_221 in calves could be attributed to a reduction in complement activity, which in turn leads to susceptibility to infections. Thus, the risk allele could serve as a useful marker to reduce the mortality of infected Japanese Black calves.

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Osteosarcoma Pathogenesis Leads the Way to New Target Treatments

International Journal of Molecular Sciences ◽

10.3390/ijms22020813 ◽

2021 ◽

Vol 22 (2) ◽

pp. 813

Author(s):

Isabel Fernandes ◽

Cecília Melo-Alvim ◽

Raquel Lopes-Brás ◽

Miguel Esperança-Martins ◽

Luís Costa

Keyword(s):

Clinical Trials ◽

Phase I ◽

Poor Prognosis ◽

Therapeutic Targets ◽

Rare Condition ◽

Basic Research ◽

Metastatic Setting ◽

Phase I And Ii ◽

The Way

Osteosarcoma (OS) is a rare condition with very poor prognosis in a metastatic setting. Basic research has enabled a better understanding of OS pathogenesis and the discovery of new potential therapeutic targets. Phase I and II clinical trials are already ongoing, with some promising results for these patients. This article reviews OS pathogenesis and new potential therapeutic targets.

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