Suppr超能文献

与沙特低体力活动女性相关的功能性DNA变异:一项微阵列初步研究。

Functional DNA variations associated with Saudi female with low VO: a pilot microarray study.

作者信息

Al Asoom Lubna Ibrahim, Alsuwat Hind Saleh, Rafique Nazish, Al Makhaita Marwah, Alamoudi Widyan, AbdulAzeez Sayed, Borgio Jesu Francis

机构信息

Department of Physiology, College of Medicine, Imam Abdulrahman Bin Faisal University Dammam 31441, Saudi Arabia.

Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), Imam Abdulrahman Bin Faisal University Dammam 31441, Saudi Arabia.

出版信息

Am J Transl Res. 2019 Jun 15;11(6):3659-3670. eCollection 2019.

Abstract

The study aims to explore the genetic predispositions and molecular pathways of low cardiorespiratory fitness (VO) in young Saudi females ( = 70). Young females were grouped based on the level of VO according to the specification of the physical fitness specialist certification as low VO (< 28.9; = 19) and high VO (> 33; = 14) and genotyped for 243345 putative functional exonic variants. The -rs10037485T, -rs75380747G and -rs13695C SNPs on chromosome 5, 12 and 17, respectively were found to be the most significant among young Saudi females with low VO ( < 8.01 × 10). Linkage disequilibrium (LD) analysis among the significant SNPs ( < 0.001) have revealed risk and protective haplotypes with high degree (-value < 1.0 × 10) of LD. The most significant risk haplotypes with the low VO in young Saudi females are: Chromosome 1: -rs10800201G; -rs4657537A; rs4657583T (-value = 2.00 × 10); Chromosome 3: rs978979G; -rs7637449A; -rs111934125T; -rs9835332G (-value = 5.00 × 10) and Chromosome 17: -rs13696C; -rs1901187C (-value = 1.00 × 10). Functional Enrichment Analysis revealed that the genes with SNPs < 0.001 have significantly involved in the heart rate ( = 0.00442), body weight ( = 0.00629), breath tests ( = 0.0147), proteolysis ( = 0.00623) and cardiac muscle fiber development ( = 0.0263). In conclusion we could say that the identified genetic predispositions and gene-annotation enrichment in low VO in young Saudi females revealed that they are at high risk for developing cardiovascular complications.

摘要

该研究旨在探索沙特年轻女性(n = 70)中心血管呼吸适能(VO)较低的遗传易感性和分子途径。年轻女性根据体能专家认证规范,按照VO水平分为低VO组(< 28.9;n = 19)和高VO组(> 33;n = 14),并对243345个推定的功能性外显子变体进行基因分型。分别位于5号、12号和17号染色体上的-rs10037485T、-rs75380747G和-rs13695C单核苷酸多态性(SNP)在VO较低的沙特年轻女性中最为显著(p < 8.01 × 10)。对显著SNP(p < 0.001)进行连锁不平衡(LD)分析,发现了具有高度(p值 < 1.0 × 10)LD的风险和保护单倍型。沙特年轻女性中与低VO相关的最显著风险单倍型为:1号染色体:-rs10800201G;-rs4657537A;rs4657583T(p值 = 2.00 × 10);3号染色体:rs978979G;-rs7637449A;-rs111934125T;-rs9835332G(p值 = 5.00 × 10);17号染色体:-rs13696C;-rs1901187C(p值 = 1.00 × 10)。功能富集分析表明,SNP p < 0.001的基因显著参与心率(p = 0.00442)、体重(p = 0.00629)、呼吸测试(p = 0.0147)、蛋白水解(p = 0.00623)和心肌纤维发育(p = 0.0263)。总之,我们可以说,在沙特年轻女性中确定的低VO遗传易感性和基因注释富集表明,她们发生心血管并发症的风险很高。

相似文献

1
Functional DNA variations associated with Saudi female with low VO: a pilot microarray study.
Am J Transl Res. 2019 Jun 15;11(6):3659-3670. eCollection 2019.
2
Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.
Mol Biol Rep. 2020 Oct;47(10):7623-7632. doi: 10.1007/s11033-020-05832-6. Epub 2020 Sep 29.
4
Identification of novel genetic variants associated with cardiorespiratory fitness.
Prog Cardiovasc Dis. 2020 May-Jun;63(3):341-349. doi: 10.1016/j.pcad.2020.02.001. Epub 2020 Feb 6.
5
Functional multigenic variations associated with hodgkin lymphoma.
Int J Lab Hematol. 2021 Dec;43(6):1472-1482. doi: 10.1111/ijlh.13644. Epub 2021 Jul 3.
6
Aerobic Profile During High-intensity Performance in Professional Saudi Athletes.
Pak J Biol Sci. 2018;21(1):24-28. doi: 10.3923/pjbs.2018.24.28.
7
Atherogenic lipidomics profile in healthy individuals with low cardiorespiratory fitness: The HUNT3 fitness study.
Atherosclerosis. 2022 Feb;343:51-57. doi: 10.1016/j.atherosclerosis.2022.01.001. Epub 2022 Jan 20.
8
Cardiorespiratory fitness and its association with adiposity indices in young adults.
Pak J Med Sci. 2017 May-Jun;33(3):659-664. doi: 10.12669/pjms.333.12294.
9
The association of adiposity, physical fitness, vitamin D levels and haemodynamic parameters in young Saudi females.
J Taibah Univ Med Sci. 2017 Jun 15;13(1):51-57. doi: 10.1016/j.jtumed.2017.05.004. eCollection 2018 Feb.
10
Cardiorespiratory fitness levels and their association with cardiovascular profile in patients with rheumatoid arthritis: a cross-sectional study.
Rheumatology (Oxford). 2015 Dec;54(12):2215-20. doi: 10.1093/rheumatology/kev035. Epub 2015 Jul 25.

引用本文的文献

1
Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis.
Arch Med Sci. 2021 Mar 22;20(5):1529-1537. doi: 10.5114/aoms/116606. eCollection 2024.
2
Prediction of the maximum oxygen consumption (VO) for young Saudi females using exercise parameters.
J Family Community Med. 2024 Oct-Dec;31(4):289-294. doi: 10.4103/jfcm.jfcm_58_24. Epub 2024 Oct 10.
3
Validation of VO Prediction Using International Formulae for Young Saudi Men.
Int J Med Sci. 2024 Aug 26;21(12):2285-2292. doi: 10.7150/ijms.99236. eCollection 2024.

本文引用的文献

3
Vitamin D and Cardiorespiratory Fitness in the General Population: A Systematic Review.
Int J Vitam Nutr Res. 2017 Sep;87(5-6):330-341. doi: 10.1024/0300-9831/a000490. Epub 2018 Nov 30.
4
Cardiorespiratory fitness and development of abdominal obesity.
Prev Med. 2019 Jan;118:232-237. doi: 10.1016/j.ypmed.2018.10.020. Epub 2018 Nov 8.
5
Aerobic Profile During High-intensity Performance in Professional Saudi Athletes.
Pak J Biol Sci. 2018;21(1):24-28. doi: 10.3923/pjbs.2018.24.28.
6
Maximal oxygen uptake: New and more accurate predictive equation.
Eur J Prev Cardiol. 2018 Jul;25(10):1075-1076. doi: 10.1177/2047487318780442. Epub 2018 Jun 6.
7
Physical activity promotion in Saudi Arabia: A critical role for clinicians and the health care system.
J Epidemiol Glob Health. 2018 Mar;7 Suppl 1(Suppl 1):S7-S15. doi: 10.1016/j.jegh.2017.10.005. Epub 2017 Oct 24.
8
Cardiorespiratory Fitness and Cardiovascular Disease Prevention: an Update.
Curr Atheroscler Rep. 2018 Jan 16;20(1):1. doi: 10.1007/s11883-018-0711-4.
9
Expression Atlas: gene and protein expression across multiple studies and organisms.
Nucleic Acids Res. 2018 Jan 4;46(D1):D246-D251. doi: 10.1093/nar/gkx1158.
10
The Reactome Pathway Knowledgebase.
Nucleic Acids Res. 2018 Jan 4;46(D1):D649-D655. doi: 10.1093/nar/gkx1132.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验