23
DOI: https://doi.org/10.1186/s43141-022-00400-w
English
eng
Aswa, Marwa
Contributor
<div id="abs0005" style="margin: 0px; padding: 0px; color: rgb(31, 31, 31); font-family: ElsevierGulliver, Georgia, "Times New Roman", Times, STIXGeneral, "Cambria Math", "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", "Arial Unicode MS", serif, sans-serif; font-size: 16px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0010" style="margin-right: 0px; margin-left: 0px; padding: 0px; margin-top: 24px !important; margin-bottom: 8px !important; font-size: 20px !important; line-height: 30px !important;">Background</h3><div class="u-margin-s-bottom" id="sp0105" style="margin-top: 0px; margin-right: 0px; margin-left: 0px; padding: 0px; margin-bottom: 16px !important;"><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;">Primary angle-closure glaucoma (PACG) is one of the major causes of <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/amaurosis" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">blindness</a> in the Middle East with </span><a href="https://www.sciencedirect.com/topics/neuroscience/gene-locus" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">genetic loci</a> and systemic </span><a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/oxidative-stress" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">oxidative stress</a><span style="margin: 0px; padding: 0px;"> as potential risk factors. The current case-control study aimed to investigate the associations of rs11024102 in <a href="https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/pleckstrin" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">Pleckstrin</a> homology domain-containing family A member 7 (</span></span><em style="margin: 0px; padding: 0px;">PLEKHA7</em>), rs3753841 in collagen 11 A1 (<em style="margin: 0px; padding: 0px;">COL11A1</em><span style="margin: 0px; padding: 0px;">), and the systemic <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/oxidative-stress" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">oxidative stress</a> markers with PACG in Egyptian patients. Thirty-five control subjects and 64 PACG patients were enrolled in this study. The polymorphisms in </span><em style="margin: 0px; padding: 0px;">PLEKHA7</em> and <em style="margin: 0px; padding: 0px;">COL11A1</em><span style="margin: 0px; padding: 0px;"> were analyzed using <a href="https://www.sciencedirect.com/topics/neuroscience/real-time-polymerase-chain-reaction" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">quantitative PCR</a>, and their associations were statistically tested with PACG at </span><em style="margin: 0px; padding: 0px;">homozygous, heterozygous, dominant, and recessive genetic models</em><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;">. The levels of <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/malonaldehyde" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">malondialdehyde</a><span style="margin: 0px; padding: 0px;"> (MDA), advanced glycation-end product (AOPP), protein carbonyl (PC), and <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/ischemia-modified-albumin" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">ischemia modified albumin</a><span style="margin: 0px; padding: 0px;"> (IMA) were quantitated colorimetrically, and their associations with PACG were analyzed statistically. The associations of MDA, <a href="https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/advanced-oxidation-protein-product" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">AOPP</a>, PC, and IMA with elevated </span></span></span><a href="https://www.sciencedirect.com/topics/neuroscience/intraocular-pressure" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">intraocular pressure</a> (IOP) were statistically tested.</span></div></div><div id="abs0010" style="margin: 0px; padding: 0px; color: rgb(31, 31, 31); font-family: ElsevierGulliver, Georgia, "Times New Roman", Times, STIXGeneral, "Cambria Math", "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", "Arial Unicode MS", serif, sans-serif; font-size: 16px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0015" style="margin-right: 0px; margin-left: 0px; padding: 0px; margin-top: 24px !important; margin-bottom: 8px !important; font-size: 20px !important; line-height: 30px !important;">Results</h3><div class="u-margin-s-bottom" id="sp0110" style="margin-top: 0px; margin-right: 0px; margin-left: 0px; padding: 0px; margin-bottom: 16px !important;"><span style="margin: 0px; padding: 0px;">Neither significant difference in the genotype distribution nor <a href="https://www.sciencedirect.com/topics/neuroscience/allele-frequency" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">allele frequency</a> of </span><em style="margin: 0px; padding: 0px;">PLEKHA7</em> 11024102 T>C (<em style="margin: 0px; padding: 0px;">p</em> = 0.425 and 0.517, respectively) and <em style="margin: 0px; padding: 0px;">COL11A1</em> rs3753841 <em style="margin: 0px; padding: 0px;">G>A</em> (<em style="margin: 0px; padding: 0px;">p</em> = 0.600 and 0.473, respectively) were recorded under any of the tested genetic models. Either rs11024102 <em style="margin: 0px; padding: 0px;">PLEKHA7</em> or rs3753841 <em style="margin: 0px; padding: 0px;">COL11A1</em> was not significantly (<em style="margin: 0px; padding: 0px;">p</em><span style="margin: 0px; padding: 0px;"><span style="margin: 0px; padding: 0px;"> > 0.025 after Bonferroni correction) associated with an increased risk of PACG in Egyptians. Egyptian patients with PACG showed significant elevations in the <a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/blood-level" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">serum levels</a> of MDA, </span><a href="https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/alpha-oxidation" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">AOPP</a><span style="margin: 0px; padding: 0px;">, and PC either in patients with or without cases with diabetes mellites, hypertension, coronary vascular diseases, and smoking. Serum levels of MDA, <a href="https://www.sciencedirect.com/topics/medicine-and-dentistry/advanced-oxidation-protein-product" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">AOPP</a>, and PC were significantly associated with PACG in Egyptians (</span></span><em style="margin: 0px; padding: 0px;">p</em> < 0.013 after Bonferroni correction). However, MDA and PC only showed significant associations with the elevation in the IOP (p = 0.007 and 0.045, respectively) in PACG patients.</div></div><div id="abs0015" style="margin: 0px; padding: 0px; color: rgb(31, 31, 31); font-family: ElsevierGulliver, Georgia, "Times New Roman", Times, STIXGeneral, "Cambria Math", "Lucida Sans Unicode", "Microsoft Sans Serif", "Segoe UI Symbol", "Arial Unicode MS", serif, sans-serif; font-size: 16px;"><h3 class="u-h4 u-margin-m-top u-margin-xs-bottom" id="sect0020" style="margin-right: 0px; margin-left: 0px; padding: 0px; margin-top: 24px !important; margin-bottom: 8px !important; font-size: 20px !important; line-height: 30px !important;">Conclusion</h3><div class="u-margin-s-bottom" id="sp0115" style="margin-top: 0px; margin-right: 0px; margin-left: 0px; padding: 0px; margin-bottom: 16px !important;"><em style="margin: 0px; padding: 0px;">Both</em><span style="margin: 0px; padding: 0px;"> rs11024102 and rs3753841 could not be considered as potential gene-dependent risk factors for PACG pathogenesis in Egyptians. On the other hand, serum levels of MDA, <a href="https://www.sciencedirect.com/topics/neuroscience/advanced-oxidation-protein-product" class="topic-link" style="margin: 0px; padding: 0px; background-color: rgba(0, 0, 0, 0); word-break: break-word; text-decoration-line: underline; text-decoration-thickness: 1px; text-decoration-color: rgb(31, 31, 31); color: rgb(31, 31, 31); text-underline-offset: 1px;">AOPP</a>, and PC might be considered risk factors for PACG. Moreover, MDA and PC could serve as good predictors for the elevation of the IOP in PACG disease.</span></div></div>
Elsevier
December 2022
pdf
Journal of Genetic Engineering and Biotechnology
Impact of rs11024102 PLEKHA7, rs3753841 COL11A1 single nucleotide polymorphisms, and serum levels of oxidative stress markers on the risk of primary angle-closure glaucoma in Egyptians
mixed material
Elsevier