Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population
Recurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims to investigate the association of SP-D single nuc...
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MDPI AG
2023-05-01
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| Online Access: | https://www.mdpi.com/2073-4425/14/5/1119 |
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| author | Zainab Rizvi Nakhshab Choudhry Aamir Jamal Gondal Nighat Yasmin |
| author_facet | Zainab Rizvi Nakhshab Choudhry Aamir Jamal Gondal Nighat Yasmin |
| author_sort | Zainab Rizvi |
| collection | DOAJ |
| description | Recurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims to investigate the association of SP-D single nucleotide polymorphisms (SNPs) with the onset of RAS. Blood samples from 212 subjects (106 cases/controls each) were collected during 2019 and genotyped for SP-D SNPs (rs721917, rs2243639, rs3088308) by polymerase chain reaction and restriction fragment length polymorphism followed by 12% polyacrylamide gel electrophoresis. Minor aphthous (75.5%) was the commonly observed ulcer type as compared to herpetiform (21.7%) and major aphthous ulcers (2.8%). A family history of RAS was reported in 70% of cases. RAS was found significantly associated with rs3088308 genotypes T/A (95% (Cl): 1.57–5.03, <i>p</i> = 0.0005), A/A (95% (Cl): 1.8–6.7, <i>p</i> = 0.0002), T-allele (95% (Cl): 1.09–2.36, <i>p</i> = 0.01), A-allele (95% (Cl): 1.42–3.91, <i>p</i> = 0.01), rs721917 genotype T/T (95% (Cl): 1.15–25.35, <i>p</i> = 0.03), and T-allele (95% (Cl): 1.28–3.10, <i>p</i> = 0.002). Female gender and obese body mass index (BMI) were significantly associated with rs3088308 genotypes T/A (95% (CI): 1.89–15.7, <i>p</i> = 0.001), T/T (95% (Cl): 1.52–11.9, <i>p</i> = 0.005), A-allele (95% (Cl): 1.65–7.58, <i>p</i> < 0.001), and T-allele (95% (Cl): 1.4–10.1, <i>p</i> <0.001) and rs721917 genotype T/T (95% (CI) = 1.3–33, <i>p</i> = 0.02), respectively. This study describes the association of SP-D SNPs (rs721917, rs3088308) with RAS in the Pakistani population. |
| first_indexed | 2024-03-11T03:41:23Z |
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| id | doaj.art-3f1ed12ab2c847c9905c2b97dfdb6cee |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T03:41:23Z |
| publishDate | 2023-05-01 |
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| spelling | doaj.art-3f1ed12ab2c847c9905c2b97dfdb6cee2023-11-18T01:30:43ZengMDPI AGGenes2073-44252023-05-01145111910.3390/genes14051119Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani PopulationZainab Rizvi0Nakhshab Choudhry1Aamir Jamal Gondal2Nighat Yasmin3Department of Oral Pathology, de’ Montmorency College of Dentistry, Lahore 54000, PakistanDepartment of Biochemistry, King Edward Medical University, Lahore 54000, PakistanDepartment of Biomedical Sciences, King Edward Medical University, Lahore 54000, PakistanDepartment of Biomedical Sciences, King Edward Medical University, Lahore 54000, PakistanRecurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims to investigate the association of SP-D single nucleotide polymorphisms (SNPs) with the onset of RAS. Blood samples from 212 subjects (106 cases/controls each) were collected during 2019 and genotyped for SP-D SNPs (rs721917, rs2243639, rs3088308) by polymerase chain reaction and restriction fragment length polymorphism followed by 12% polyacrylamide gel electrophoresis. Minor aphthous (75.5%) was the commonly observed ulcer type as compared to herpetiform (21.7%) and major aphthous ulcers (2.8%). A family history of RAS was reported in 70% of cases. RAS was found significantly associated with rs3088308 genotypes T/A (95% (Cl): 1.57–5.03, <i>p</i> = 0.0005), A/A (95% (Cl): 1.8–6.7, <i>p</i> = 0.0002), T-allele (95% (Cl): 1.09–2.36, <i>p</i> = 0.01), A-allele (95% (Cl): 1.42–3.91, <i>p</i> = 0.01), rs721917 genotype T/T (95% (Cl): 1.15–25.35, <i>p</i> = 0.03), and T-allele (95% (Cl): 1.28–3.10, <i>p</i> = 0.002). Female gender and obese body mass index (BMI) were significantly associated with rs3088308 genotypes T/A (95% (CI): 1.89–15.7, <i>p</i> = 0.001), T/T (95% (Cl): 1.52–11.9, <i>p</i> = 0.005), A-allele (95% (Cl): 1.65–7.58, <i>p</i> < 0.001), and T-allele (95% (Cl): 1.4–10.1, <i>p</i> <0.001) and rs721917 genotype T/T (95% (CI) = 1.3–33, <i>p</i> = 0.02), respectively. This study describes the association of SP-D SNPs (rs721917, rs3088308) with RAS in the Pakistani population.https://www.mdpi.com/2073-4425/14/5/1119recurrent aphthous stomatitissurfactant protein DSNPPakistan |
| spellingShingle | Zainab Rizvi Nakhshab Choudhry Aamir Jamal Gondal Nighat Yasmin Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population Genes recurrent aphthous stomatitis surfactant protein D SNP Pakistan |
| title | Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population |
| title_full | Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population |
| title_fullStr | Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population |
| title_full_unstemmed | Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population |
| title_short | Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population |
| title_sort | association of surfactant protein d single nucleotide polymorphisms rs721917 rs2243639 rs3088308 with recurrent aphthous stomatitis in pakistani population |
| topic | recurrent aphthous stomatitis surfactant protein D SNP Pakistan |
| url | https://www.mdpi.com/2073-4425/14/5/1119 |
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