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Background: This study aimed to investigate the genetic association of specific Single Nucleotide Polymorphisms (SNPs) within the muscle segment homeobox gene 1 (MSX1) with susceptibility to the peg-shaped teeth in 36 Jordanian Arab families and case–control samples in the Jordanian Arab population. Methods: This cohort involved 108 individuals (36 trios families), which were used for family-based genetic study. Additionally, 56 patients and 57 controls were used for case–control study. Genomic DNA samples from both families and case–control were extracted according to distinguished processes. Then, polymerase chain reaction technique (PCR) was conducted using specific primers for the axons of the MSX1. Moreover, DNA sequencing genotyping method analysis of SNPs was used to detect specified SNPs in the MSX1 linked with peg-shaped teeth. Hardy–Weinberg Equilibrium and Chi-square were used to evaluate the data quality and the presence of any genotypic error. In addition, Transmission Disequilibrium Test (TDT) was used identify family-based association in which trios of parents and proband are used. Results: The results of this study showed fourteen polymorphic sites in this gene, eight of them (rs121913129, rs104893852, rs104893853, rs121913130, rs104893850, rs1095, rs3775261, and rs1042484) were none-polymorphic. Meanwhile, the minor allele frequencies of the rest of the SNPs were polymorphic (rs8670, rs12532, rs3821949, rs4464513, rs1907998, and rs6446693). However, none of these SNPs were associated with peg-shaped teeth. Moreover, the haplotype genetic analysis revealed that there was no genetic association with peg-shaped teeth disorder susceptibility (P > 0.05) in the Jordanian families of Arab descent. Conclusions: The present findings can be used in estimation of prevalence of peg-shaped teeth in the Jordanian population. However, our findings revealed that there is no evidence that the MSX1 polymorphisms had a crucial role in the peg-shaped teeth phenomenon, emphasizing that other genes might have this role. These findings are beneficial for clinicians to comprehensively understand the molecular aspects of teeth abnormalities. [ABSTRACT FROM AUTHOR]

aim,1 Laith AL-Eitan,2 Nour Abdo,3 Asem Alqudah,4 Hatem Aman11Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan; 2Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan; 3Department of Public Health, Faculty of Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan; 4Department of Ophthalmology, Faculty of Medicine, Jordan University of Science and Technology, Irbid 22110, JordanCorrespondence: Rami AlkhatibDepartment of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, JordanTel +9622776319493Email rqalkhatib@just.edu.jo Background: Glaucoma is a neurodegenerative disease that leads to progressive loss of retinal ganglion cells, causing irreversible visual field defects. At the present time, glaucoma is clinically defined but the exact etiology is unknown. The aim of this study is to genotype rs2472493 and rs2487032 SNIPs within ABCA1 gene in 52 Jordanian Arab patients with primary glaucoma and 96 control subjects, and also to investigate the genetic association of these SNPs with primary glaucoma. Methods: DNA was extracted from both patients and controls according to a well-established procedure. Then, DNA was amplified by PCR using specific primers for this gene. Analysis of polymorphisms was carried out by using DNA sequencing genotyping method. Results: The results showed that the two SNPs (rs2472493 and rs2487032) located upstream of ABCA1 gene have no significant associations with primary glaucoma disorder (P > 0.05). Conclusion: This study is the first of its kind to reveal no genetic association between ABCA1 gene and primary glaucoma disorder in Jordanian population of Arab descent. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to genotype thirteen Single Nucleotide Polymorphisms (SNPs) within the paired box gene 9 (PAX9) in 36 Jordanian Arab families with peg-shaped teeth, and also to investigate the association between the PAX9 gene and peg-shaped teeth disorder., Methods: Genomic DNA samples were extracted from families according to distinguished processes. Then, DNA was amplified by polymerase chain reaction technique (PCR) using specified primers for the exons of the PAX9 gene. In addition, single nucleotide polymorphisms analysis was conducted using the DNA sequencing genotyping method to identify specific single nucleotide polymorphisms in the PAX9 gene associated with peg-shaped teeth., Results: Thirteen single nucleotide polymorphisms in the PAX9 gene (Chromosome 14q13.3) were used; seven of them (rs104894467, rs104894469, rs28933373, rs28933970, rs28933971, rs28933972, and rs7143727) were non-polymorphic, and the other six were polymorphic (rs2073244, rs2073246, rs2295222, rs4904155, rs4904210, and rs12881240). Both rs12881240 and rs2295222 SNPs showed significant association with peg-shaped teeth disorder (P < 0.05). Moreover, the haplotype genetic analysis revealed that there is a genetic association with peg-shaped teeth disorder susceptibility (P < 0.05) in the Jordanian families of Arab descent., Conclusion: Our findings exhibited significant variations compared to the data recorded from other countries., (Copyright © 2020 Elsevier Ltd. All rights reserved.)