Single Nucleotide Polymorphisms in the P2X7 Receptor Gene are Associated with Stress Fracture Risk

Objective: The objective of this study is to determine the associations among genetic variations in the P2X7 receptor gene, decreased bone mineral density (BMD), and the risk of osteoporosis in patients aged older than 50 years with ankle fractures. Methods: Patients were genotyped for 15 nonsynonymous single-nucleotide polymorphisms (SNPs) in the P2X7 gene. The sample was divided into two groups according to the bone densitometry results: an intervention group with osteopenia (T scores between –1.0 and –2.5) or osteoporosis (T scores ≤ –2.5) and a control group with values within the normal range (T scores ≥ –1). A total of 121 patients were evaluated: 65 in the intervention group and 56 in the control group. Results: The results suggested that SNPs 1, 4, 11, 13, 14, and 15 were loss-of-function (LOF) variants. SNP 12 was also associated with LOF in our population, but its RNA expression has not been analyzed to date. Conclusions: In conclusion, we demonstrate that functional polymorphisms in P2X7 are associated with BMD and with an increased risk of ankle fractures. The limitations of our study are its focus on nonsynonymous polymorphisms, which do not cover all genetic variations in P2X7, and its small sample size compared with the international literature. A strength of this study is that it is the first to evaluate P2X7 in the Brazilian population.

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Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures

European Journal of Human Genetics ◽

10.1038/ejhg.2011.253 ◽

2012 ◽

Vol 20 (6) ◽

pp. 675-681 ◽

Cited By ~ 52

Author(s):

Niklas R Jørgensen ◽

Lise B Husted ◽

Kristen K Skarratt ◽

Leanne Stokes ◽

Charlotte L Tofteng ◽

...

Keyword(s):

Bone Loss ◽

Single Nucleotide Polymorphisms ◽

Vertebral Fractures ◽

P2x7 Receptor ◽

Receptor Gene ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Post Menopausal

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Single nucleotide polymorphisms in the progesterone receptor gene and association with uterine leiomyoma tumor characteristics and disease risk

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2008.06.015 ◽

2008 ◽

Vol 199 (6) ◽

pp. 648.e1-648.e9 ◽

Cited By ~ 9

Author(s):

Stefan P. Renner ◽

Reiner Strick ◽

Peter A. Fasching ◽

Sonja Oeser ◽

Peter Oppelt ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Progesterone Receptor ◽

Uterine Leiomyoma ◽

Disease Risk ◽

Receptor Gene ◽

Tumor Characteristics ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Progesterone Receptor Gene

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Single Nucleotide Polymorphisms Identification and Genotyping Analysis of Melanocortin 1 Receptor Gene in Various Plumage Colours Magelang Ducks

International Journal of Poultry Science ◽

10.3923/ijps.2015.207.212 ◽

2015 ◽

Vol 14 (4) ◽

pp. 207-212 ◽

Cited By ~ 5

Author(s):

Ayu Rahayu ◽

Dattadewi Purwantini ◽

Dyah Maharani ◽

Tety Hartatik

Keyword(s):

Single Nucleotide Polymorphisms ◽

Receptor Gene ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Melanocortin 1 Receptor

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Histamine H3 receptor gene variants associated with drug abuse in patients with cocaine use disorder

Journal of Psychopharmacology ◽

10.1177/0269881120961253 ◽

2020 ◽

Vol 34 (11) ◽

pp. 1326-1330

Author(s):

Iñigo Pallardo-Fernández ◽

José Ramón Muñoz-Rodríguez ◽

Carmen González-Martín ◽

Luis F Alguacil

Keyword(s):

Drug Abuse ◽

Single Nucleotide Polymorphisms ◽

Receptor Gene ◽

Gene Variants ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Histamine H3 Receptor ◽

Cocaine Use ◽

H3 Receptor ◽

Histamine H3

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.

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