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Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's.
Lipids in Health and Disease ( IF 4.5 ) Pub Date : 2019-12-19 , DOI: 10.1186/s12944-019-1165-6 Zainab H Malalla 1 , Ahmad E Al-Serri 2 , Huda M AlAskar 1 , Wafaa Y Al-Kandari 1 , Suzanne A Al-Bustan 1
Lipids in Health and Disease ( IF 4.5 ) Pub Date : 2019-12-19 , DOI: 10.1186/s12944-019-1165-6 Zainab H Malalla 1 , Ahmad E Al-Serri 2 , Huda M AlAskar 1 , Wafaa Y Al-Kandari 1 , Suzanne A Al-Bustan 1
Affiliation
BACKGROUND
APOC3 is important in lipid transport and metabolism with limited studies reporting genetic sequence variations in specific ethnic groups. The present study aimed to analyze the full APOC3 sequence among Kuwaiti Arabs and test the association of selected variants with lipid levels and BMI.
METHODS
Variants were identified by Sanger sequencing the entire APOC3 gene in 100 Kuwaiti Arabs. Variants and their genotypes were fully characterized and used to construct haplotype blocks. Four variants (rs5128, rs2854117, rs2070668, KUAPOC3N3 g.5196 A > G) were selected for testing association with serum lipid levels and BMI in a cohort (n = 733).
RESULTS
APOC3 sequence (4.3 kb) of a Kuwaiti Arab was deposited in Genbank (accession number KJ437193). Forty-two variants including 3 novels were identified including an "A" insertion at genomic positions 116,700,599-116,700,600 (promoter region) and two substitutions in intron 1 at genomic positions 116,700,819 and 116,701,159. Only three variants, (rs5128, rs2854117, and rs2070668) were analyzed for association of which rs5128 showed a trend for association with increased BMI, TG and VLDL levels that was further investigated using multivariate analysis. A significant association of rs5128 with BMI (p < 0.05) was observed following a dominant genetic model with increased risk by an OR of 4.022 (CI: 1.13-14.30).
CONCLUSION
The present study is the first to report sequence analysis of APOC3 in an Arab ethnic group. This study supports the inclusion of rs5128 as a marker for assessing genetic risk to dyslipidemia and obesity and the inclusion of the novel variant g.5196 A > G for population stratification of Arabs.
中文翻译：
APOC3基因位点的序列分析和变体鉴定表明，rs5218与科威特样本中的BMI相关。
背景技术APOC3在脂质转运和代谢中很重要，只有有限的研究报道了特定种族的遗传序列变异。本研究旨在分析科威特阿拉伯人的完整APOC3序列，并测试所选变体与脂质水平和BMI的关联。方法通过Sanger测序100位科威特阿拉伯人的整个APOC3基因，鉴定出变异体。变异体及其基因型已得到充分表征，并用于构建单倍型模块。选择了四个变体（rs5128，rs2854117，rs2070668，KUAPOC3N3 g.5196 A> G），以测试与队列中的血脂水平和BMI的关联（n = 733）。结果科威特阿拉伯人的APOC3序列（4.3 kb）存放在Genbank中（登录号KJ437193）。确定了包括3部小说在内的42个变体，其中包括“ A” 在基因组位置116,700,599-116,700,600（启动子区域）中插入和在基因组位置116,700,819和116,701,159中内含子1中的两个取代。仅分析了三个变体（rs5128，rs2854117和rs2070668）的关联，其中rs5128显示出与BMI，TG和VLDL水平升高相关的趋势，并使用多变量分析进行了进一步研究。遵循显性遗传模型，观察到rs5128与BMI显着相关（p <0.05），OR增加为4.022（CI：1.13-14.30）。结论本研究是第一个报告阿拉伯族裔APOC3序列分析的研究。这项研究支持将rs5128作为评估血脂异常和肥胖的遗传风险的标记物，并包括新的变体g.5196 A>
更新日期：2019-12-19
中文翻译：
APOC3基因位点的序列分析和变体鉴定表明，rs5218与科威特样本中的BMI相关。
背景技术APOC3在脂质转运和代谢中很重要，只有有限的研究报道了特定种族的遗传序列变异。本研究旨在分析科威特阿拉伯人的完整APOC3序列，并测试所选变体与脂质水平和BMI的关联。方法通过Sanger测序100位科威特阿拉伯人的整个APOC3基因，鉴定出变异体。变异体及其基因型已得到充分表征，并用于构建单倍型模块。选择了四个变体（rs5128，rs2854117，rs2070668，KUAPOC3N3 g.5196 A> G），以测试与队列中的血脂水平和BMI的关联（n = 733）。结果科威特阿拉伯人的APOC3序列（4.3 kb）存放在Genbank中（登录号KJ437193）。确定了包括3部小说在内的42个变体，其中包括“ A” 在基因组位置116,700,599-116,700,600（启动子区域）中插入和在基因组位置116,700,819和116,701,159中内含子1中的两个取代。仅分析了三个变体（rs5128，rs2854117和rs2070668）的关联，其中rs5128显示出与BMI，TG和VLDL水平升高相关的趋势，并使用多变量分析进行了进一步研究。遵循显性遗传模型，观察到rs5128与BMI显着相关（p <0.05），OR增加为4.022（CI：1.13-14.30）。结论本研究是第一个报告阿拉伯族裔APOC3序列分析的研究。这项研究支持将rs5128作为评估血脂异常和肥胖的遗传风险的标记物，并包括新的变体g.5196 A>
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