scholarly journals NAT2 and oral clefts: evaluation of genetic risk and the relative importance of embryo and maternal genotypes

2018 ◽  
Vol 21 (1) ◽  
Author(s):  
Maria Rita Santos ◽  
Hebe Campaña ◽  
Laura Smeldy Jurado Medina ◽  
Camila Sala ◽  
Marina Muzzio ◽  
...  
Keyword(s):  
Latin American ◽  
Cleft Lip ◽  
Collaborative Study ◽  
Acetylator Phenotype ◽  
Relative Importance ◽  
Slow Acetylator ◽  
Oral Clefts ◽  
Maternal Genotype ◽  
Pcr Rflp ◽  
Case Mother

Non-syndromic cleft lip with or without cleft palate (NSCLP) is a congenital malformation that shows the characteristics of a multifactorial pathology. In order to describe the genetic predisposition to this disorder, NAT genes were analyzed with special interest since they codify for N-acetyltransferases, the enzymes responsible for the biotransformation of arylamines, hydrazine drugs and a great number of toxins and carcinogens present in diet, cigarette smoke and the environment. The allelic transmission of NAT2 that determines the slow acetylator phenotype in 174 trios (case-mother/father) from ECLAMC (Latin American Collaborative Study of Congenital Malformations) maternities in Argentina was evaluated. The *4, *5B, *6, and *7 variants by PCR-RFLP were analyzed. A higher risk for the 5B*5B* genotypes (OR=2. 24; p=0.050) was found, at the expense of the cases from Patagonia, without the influence of the maternal genotype.             

scholarly journals FOXE1 mutations in Thai patients with oral clefts

2013 ◽  
Vol 95 (5) ◽  
pp. 133-137 ◽  
Author(s):  
CHALURMPON SRICHOMTHONG ◽  
RUNGNAPA ITTIWUT ◽  
PICHIT SIRIWAN ◽  
KANYA SUPHAPEETIPORN ◽  
VORASUK SHOTELERSUK
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Genetic Factors ◽  
Heterozygous State ◽  
Coding Region ◽  
Thai Population ◽  
Oral Clefts ◽  
Pcr Rflp ◽  
Genotype A

SummaryNon-syndromic oral clefts comprising cleft lip with and without cleft palate (CL/P) and cleft palate only (CPO) are common birth defects worldwide. Their aetiology involves both environmental and genetic factors. FOXE1 has previously been reported to be associated with oral clefts in some populations. Here, we investigate whether mutations in FOXE1 play a part in the formation of oral cleft in a Thai population. We first performed PCR–RFLP to genotype a previously reported associated polymorphism, c.-1204C > G (rs111846096), in our cohort. No association was found. In addition, two unrelated unaffected controls were found to be homozygous GG, indicating that homozygous GG at this c.-1204 position was not sufficient for the development of oral clefts. We then sequenced the entire coding region of FOXE1 in 458 unrelated individuals (146 CPOs, 108 CL/Ps and 204 Thai controls). Five different non-synonymous variants, c.274G > T (p.D92Y), c.569C > G (p.P190R), c.569C > T (p.P190L), c.664C > T (p.R222C) and c.1090G > A (p.G364S), were identified in CPOs and one, c.572C > G (p.P191R), in CL/P. All these six variants were in heterozygous state, each identified in one patient, and absent in 204 controls. Except the p.P190R, which was previously reported, the other five variants were novel. Our study identifies probable susceptibility variants of FOXE1 for oral clefts in the Thai population.

Prominence of slow acetylator phenotype among patients with sulfonamide hypersensitivity reactions

1991 ◽  
Vol 49 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Michael J Rieder ◽  
N H Shear ◽  
A Kanee ◽  
B K Tang ◽  
Stephen P Spielberg
Keyword(s):  
Acetylator Phenotype ◽  
Hypersensitivity Reactions ◽  
Slow Acetylator

scholarly journals Chromosomal localization of human genes for arylamine N-acetyltransferase

1994 ◽  
Vol 297 (3) ◽  
pp. 441-445 ◽  
Author(s):  
D Hickman ◽  
A Risch ◽  
V Buckle ◽  
N K Spurr ◽  
S J Jeremiah ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
In Situ Hybridization ◽  
Yeast Artificial Chromosome ◽  
Chromosomal Localization ◽  
Artificial Chromosome ◽  
Acetylator Phenotype ◽  
Chromosome 8 ◽  
Slow Acetylator ◽  
Human Genes

Arylamine N-acetyltransferase is encoded at two loci, AAC-1 and AAC-2, on human chromosome 8. The products of the two loci are able to catalyse N-acetylation of arylamine carcinogens, such as benzidine and other xenobiotics. AAC-2 is polymorphic and individuals carrying the slow-acetylator phenotype are more susceptible to benzidine-induced bladder cancer. We have identified yeast artificial chromosome clones encoding AAC-1 and AAC-2 and have used the cloned DNAs as fluorescent probes for in situ hybridization. The hybridization patterns allow assignment of AAC-1 and AAC-2 to chromosome 8p21.3-23.1, a region in which deletions have been associated with bladder cancer [Knowles, Shaw and Proctor (1993) Oncogene 8, 1357-1364].

NAT2 and CYP1B1 genetic polymorphisms in patients with genital endometriosis depending on tolerability of melatonin

2021 ◽  
Vol 70 (4) ◽  
pp. 35-42
Author(s):  
Tatyana E. Ivashchenko ◽  
Maria I. Yarmolinskaya ◽  
Saimat S. Tkhazaplizheva
Keyword(s):  
Genetic Polymorphism ◽  
Rflp Analysis ◽  
Acetylator Phenotype ◽  
Wild Type ◽  
Melatonin Administration ◽  
Pcr Rflp ◽  
Genes Encoding ◽  
Poor Tolerance ◽  
Nat2 Gene ◽  
Rapid Acetylator

BACKGROUND: Genital endometriosis is one of the most pressing problems of modern gynecology. Melatonin is a promising drug with a potentially curative effect on endometriosis. AIM: The aim of this study was to conduct a comparative analysis of the genetic polymorphism of some genes encoding enzymes involved in melatonin metabolism. MATERIALS AND METHODS: The genetic polymorphism in the NAT2 and CYP1B1 genes encoding enzymes involved in melatonin metabolism in patients with different tolerance to this drug was analyzed by PCR-RFLP analysis. RESULTS: In patients with genital endometriosis, the presence of a wild-type allele (N) of the NAT2 gene was associated with poor tolerance of melatonin. The NAT2 (N / N) rapid acetylator phenotype combined with the low catalytic activity of CYP1B1 (C / C) occurred more frequently in endometriosis patients having poor melatonin tolerability compared to the group of patients who tolerated the therapy well. CONCLUSIONS: For patients with genital endometriosis with the wild-type (N) allele of the NAT2 gene, melatonin administration is inappropriate due to numerous side effects during the drug use.

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

2020 ◽  
Vol 57 (6) ◽  
pp. 671-677 ◽  
Author(s):  
Yah-Huei Wu-Chou ◽  
Kuo-Ting Philip Chen ◽  
Yi-Chieh Lu ◽  
Yin-Ting Lin ◽  
Hsien-Fang Chang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Strong Association ◽  
Nucleotide Polymorphisms ◽  
Test Analysis ◽  
Oral Clefts ◽  
The Family ◽  
Abca4 Gene ◽  
Family Based ◽  
New Evidence

Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. Design: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. Participants: The study sample consisted of 334 case–parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. Results: We found only the SNP rs560426 within the ABCA4 gene showed strong association with NSCPO ( P = .03498; Permuted P = .05382). No association between other 9 selected SNPs in ABCA4-ARHGAP29 region and the risk of nonsyndromic oral clefts was found. For the haplotype analyses, we found only haplotype T-C (rs570926 and rs3789431) in ABCA4 block 2 showed significant association with nonsyndromic NSCL/P in these Taiwanese trios. Conclusions: We used a family-based analysis in 334 Taiwanese case–parent trios to validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. This study provides a new evidence for an association between the intron variant rs560426 within ABCA4 and nonsyndromic cleft palate which may contribute their regulatory role in craniofacial development.

Carbamazepine-Isoniazid Interaction

PEDIATRICS ◽  
1983 ◽  
Vol 71 (1) ◽  
pp. 139-139
Author(s):  
J. M. WRIGHT
Keyword(s):  
Case Report ◽  
Steady State ◽  
Significant Interaction ◽  
Similar Case ◽  
Drug Regimen ◽  
Acetylator Phenotype ◽  
Serum Concentrations ◽  
Slow Acetylator ◽  
Steady State Serum ◽  
Clinically Significant

To the Editor.— The case report of carbamazepine intoxication secondary to isoniazid administration recently described in this journal1 is a clinically significant interaction. I have previously presented2 a similar case in which a patient receiving carbamazepine, valproate, and nitrazepam developed severe carbamazepine intoxication when isoniazid was added to the drug regimen. The patient was determined to have inherited the slow acetylator phenotype. On careful rechallenge, 300 mg of isoniazid increased carbamazepine steady-state serum concentrations by 85% and decreased carbamazepine clearance by 45%.

Birth weight and gestational age of newborns with cleft lip with or without cleft palate and with isolated cleft palate

2004 ◽  
Vol 27 (2) ◽  
pp. 185-190 ◽  
Author(s):  
Diego Wyszynski ◽  
Andrea Sarkozi ◽  
Peter Vargha ◽  
Andrew Czeizel
Keyword(s):  
Birth Weight ◽  
Cleft Palate ◽  
Gestational Age ◽  
Premature Birth ◽  
Cleft Lip ◽  
Very Low Birth Weight ◽  
Elevated Risk ◽  
Healthy Controls ◽  
Oral Clefts ◽  
Isolated Cleft Palate

The birth weight and gestational age of 1368 newborns with isolated cleft lip with or without cleft palate and 582 with isolated cleft palate were compared to those of matched healthy controls. The results indicate that fetuses with oral clefts are at elevated risk of having low and very low birth weight, but not of having a premature birth. Speculations on a relationship between these findings and the presence of oral clefts are presented.

scholarly journals Azerbaijan-Venezuela relations

2021 ◽  
pp. 45-58
Author(s):  
Nariman Aliev ◽  
Vadim Mikhailovich Vysotskii ◽  
Andrea Dohnalova
Keyword(s):  
Foreign Policy ◽  
Latin American ◽  
Collaborative Study ◽  
Armed Forces ◽  
Common Interest ◽  
Case Study Method ◽  
Bilateral Relations ◽  
The Moment ◽  
Global Agenda

The object of this collaborative study is the evolution of Azerbaijan-Venezuela relations since the moment of their establishment in 1995 till the present day. The purpose of the article is to define the main stages of development of bilateral relations between Azerbaijan and Venezuela, detect the potential prospects of their development, denote areas of common interest in the global agenda, and study the source base of bilateral relations. Using the case study method, the authors not only analyze the actions of both parties aimed at the development of bilateral relations, but also predict the official strategy of Baku and Caracas of further advancement of the interstate dialogue. The authors arrive at a conclusion that the geopolitical grounds of Azerbaijan’s foreign policy have been influenced by its defeat in the First Karabakh War (1992 - 1994) and the occupation of 20% of its territory by the Armenian armed forces. In subsequent years, all foreign policy maneuvers of official Baku were reduced to one goal: to restore its territorial integrity. That was the reason for Baku’s aspiration to garner the support of other states. In this direction, the most fruitful one was the work of Azerbaijan diplomacy in Latin American countries including Venezuela. Notably, official Baku and Caracas have similar stands on many issues of global and domestic policy. For Venezuelan President Nicolas Maduro, close connections with Azerbaijan is an additional proof of his legitimacy in political in-fighting against the opposition. The scientific novelty of the research consists in the fact that it is one of the first attempts to analyze Azerbaijan-Venezuela relations from a comprehensive perspective.  

Talon Cusp Associates With MMP2 in a Cohort of Individuals Born With Oral Clefts

2020 ◽  
pp. 105566562095856
Author(s):  
Bianca G. N. Cavalcante ◽  
Rosa Helena W. Lacerda ◽  
Ionária O. Assis ◽  
Mariana Bezamat ◽  
Adriana Modesto ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Dental Development ◽  
Internal Anatomy ◽  
Dental Anomalies ◽  
Extended Phenotype ◽  
Nucleotide Polymorphism ◽  
Chi Square ◽  
Single Nucleotide ◽  
Oral Clefts

Objective: The aim of this study was to use dental development as a tool to subphenotype oral clefts and investigate the association of MMP2 with dentin-pulp complex anomalies, in order to identify dental anomalies that are a part of a “cleft syndrome.” Design: Two hundred and ninety individuals born with cleft lip and palate were evaluated and several clinical features, such as cleft completeness or incompleteness, laterality, and presence of dental anomalies were used to assess each individual’s cleft status. We tested for overrepresentation of MMP2 single nucleotide polymorphism rs9923304 alleles depending on individuals having certain dental anomalies. Chi-square and Fisher exact tests were used in all comparisons (α = .05). Results: All individuals studied had at least one dental anomaly outside the cleft area. Significant differences between individuals born with clefts with and without talon cusp ( P = .04) were observed for the frequency of the MMP2 less common allele. Conclusion: All individuals born with cleft lip and palate had alterations of the dentition, and a quarter to half of the individuals had alterations of the internal anatomy of their teeth, which further indicates that dental anomalies can be considered as an extended phenotype for clefts. MMP2 was associated with talon cusp in individuals born with oral clefts.

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