scholarly journals Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population

Cureus ◽  
2021 ◽  
Author(s):  
Farzane Vafaeie ◽  
Toba Kazemi ◽  
Saeede Khosravi ◽  
Ebrahim Miri Moghaddam
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Keivan Moradi ◽  
Aboozar Mohammadi ◽  
Mohsen Kazeminia

Abstract Background The quantification of hemoglobin A2 (Hb A2; α2δ2) is used as a valuable test to differentiate α- and ß-thal carriers in clinical laboratories. Therefore, the HBD (δ-globin) gene variants could result in reduced levels of Hb A2 and have implications for thalassemia screening programs. The aim of the present study was to predict the consequences of HBD gene variants identified in the Iranome project. Results The highest number of variants was in the Persian Gulf Islanders. The variants of p.Gln132Glu (HBD: c.394C>G), p.Gly17Arg (HBD: c.49G>C), p.Thr5Ile (HBD: c.14C>T), and p.Ala28Ser (HBD: c.82G>T) presented damage results in three or more prediction tools. In addition, it seems that the p.Gly30= (HBD: c.90C>T) decreases the use of authentic splice and, instead, creates a new donor splice site (DSS) or leads to the use of a cryptic DSS. Conclusions Most of these variants have been associated with a decrease in Hb A2 levels. Due to the high mutational diversity in the HBB gene in the Iranian population and the use of Hb A2 quantification to differentiate α- and ß-thal carriers among Iranian clinical laboratories, some attention should be taken to a possible co-inheritance of HBD gene variants to avoid the misdiagnosis of ß-thal carriers.


2016 ◽  
Vol 18 (11) ◽  
Author(s):  
Navid Delshad ◽  
Majid Ghayour-Mobarhan ◽  
Hamed Mirzaei ◽  
Kamal Razavi-Azarkhiavi ◽  
Mohsen Moohebati ◽  
...  

Gene ◽  
2019 ◽  
Vol 696 ◽  
pp. 88-94 ◽  
Author(s):  
Saeed Kalantari ◽  
Alireza Sharafshah ◽  
Parvaneh Keshavarz ◽  
Arash Davoudi ◽  
Razie Habibipour

2020 ◽  
Vol 34 (11) ◽  
pp. 1326-1330
Author(s):  
Iñigo Pallardo-Fernández ◽  
José Ramón Muñoz-Rodríguez ◽  
Carmen González-Martín ◽  
Luis F Alguacil

Background: Preclinical work revealed significant interactions between ligands of the histamine H3 receptor and different drugs of abuse. In the case of psychostimulants, the results reported are somewhat controversial and human data are still scarce, despite the fact that an inverse agonist of the H3 receptor (pitolisant) has reached the market after approval for the treatment of narcolepsy. Aims: We have studied associations between histamine H3 receptor gene variants and cocaine use disorder to increase the knowledge of the possible involvement of histamine H3 receptor in drug abuse. Methods: Seven single nucleotide polymorphisms of the histamine H3 receptor gene were genotyped by using a multiplexing assay in 248 samples of subjects with cocaine use disorder and 500 randomized samples of subjects representative of the Spanish population. Results: The study of the epidemiological information associated to the samples revealed that subjects with cocaine use disorder broadly abused alcohol, tobacco and cannabinoids. Two single nucleotide polymorphisms (rs3787430 and rs74627870) were found significantly associated with the occurrence of addiction and one more (rs13042865) was specifically related to the severity of cocaine dependence within drug abusers. Conclusions: The associations found in this study further extend the hypothesis that histamine H3 receptor function could be relevant in drug abuse in general and cocaine addiction in particular.


2020 ◽  
Vol 11 (2) ◽  
pp. 63-75 ◽  
Author(s):  
Amy M. Fowler ◽  
Kelley Salem ◽  
Michael DeGrave ◽  
Irene M. Ong ◽  
Shane Rassman ◽  
...  

2003 ◽  
Vol 11 (5) ◽  
pp. 612-618 ◽  
Author(s):  
Christophe Garenc ◽  
Louis Pérusse ◽  
Yvon C. Chagnon ◽  
Tuomo Rankinen ◽  
Jacques Gagnon ◽  
...  

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