Genetics of Female Pelvic Organ Prolapse: Up to Date
Abstract
:1. Introduction
2. Materials and Methods
3. Pathogenesis of POP
3.1. Damage in Pelvic Floor Muscles and Nerves
3.2. Disorders of ECM Metabolism in the Pelvic Floor
3.2.1. Oxidative Stress (OS)
3.2.2. Mitochondrial Dysfunction
3.2.3. Hormonal Changes
3.2.4. Inflammation
4. Genetic Studies of POP
4.1. Linkage Analyses
4.2. Candidate Gene Association Studies
4.2.1. COL1A1
4.2.2. COL3A1
4.2.3. LAMC1
4.2.4. LOXL
4.2.5. FBLN5
4.2.6. MMPs and TIMPs
4.2.7. ER
4.3. Whole Exome Sequencing (WES)
4.4. Genome-Wide Association Studies (GWAS)
5. Epigenetic Studies of POP
5.1. DNA Methylation
5.2. MicroRNA
6. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Gene | SNPs | Sample Size (Case/Control) | Population | Correlation to POP | Year | Reference |
---|---|---|---|---|---|---|
COL1A1 | rs1800012 | 52/28 | Japanese | No | 2021 | [54] |
348/286 | Brazilian | No | 2020 | [55] | ||
48/48 | Chinese | No | 2019 | [56] | ||
36/36 | Caucasian, Ashkenazi–Jewish Israeli | No | 2009 | [57] | ||
Sp1 G>T | 137/96 | Italian | No | 2012 | [58] | |
15/15 | Korean | No | 2009 | [59] | ||
107/209 | Brazilian | No | 2008 | [60] | ||
COL3A1 | rs1800255 | 52/28 | Japanese | No | 2021 | [54] |
348/286 | Brazilian | No | 2020 | [55] | ||
48/48 | Chinese | No | 2019 | [54] | ||
112/180 | Brazilian | No | 2019 | [61] | ||
272/82 | Dutch | No | 2014 | [62] | ||
202/102 | Netherland | Positive | 2009 | [63] | ||
84/147 | Taiwan | Negative | 2008 | [64] | ||
Exon 31, 2092G>A | 107/209 | Brazilian | No | 2011 | [65] | |
36/36 | Korean | Positive | 2008 | [66] | ||
rs76425569 | 48/48 | Chinese | Positive | 2019 | [56] | |
rs388222 | 48/48 | Chinese | Positive | 2019 | [56] | |
rs2281968 | 48/48 | Chinese | Positive | 2019 | [56] | |
LAMC1 | rs10911193(C/T) | 239/197 | Non-Hispanic white women | No | 2012 | [67] |
165/246 | Caucasian/African–American | No | 2010 | [68] | ||
family pedigree | American | Positive | 2007 | [51] | ||
rs20563 (A/G) | 165/246 239/197 | Caucasian/African–American non-Hispanic white women | No | 2010 | [68] | |
rs20558 (T/C) | 165/246 | Caucasian/African–American | No | 2010 | [68] | |
LOXL1 | rs2165241 | 426/410 | Brazilian | No | 2022 | [69] |
52/28 | Japanese | No | 2021 | [54] | ||
LOXL4 | rs2862296 | 52/28 | Japanese | Positive | 2021 | [54] |
285/247 | Brazilian | No | 2018 | [70] | ||
FBLN5 | rs2018736 | 210/292 | Russian | Positive | 2014 | [71] |
rs12589592 | 210/292 | Russian | Positive | 2014 | [71] | |
rs12586948 | 112/180 | Brazilian | No | 2020 | [72] | |
MMP1 | −1607/−1608,1G/2G | 133/132 | Poland | No | 2013 | [73] |
137/96 | Italian | Positive | 2012 | [58] | ||
MMP3 | −1612/−1617,5A/6A | 133/132 | Poland | No | 2013 | [73] |
−1171 5A/6A | 137/96 | Italian | No | 2012 | [58] | |
−1171 5A/6A rs3025058 | 112/180 | Brazilian | No | 2019 | [74] | |
MMP9 | −1562 C/T | 137/96 | Italian | No | 2012 | [58] |
rs17576 | 239/197 | non-Hispanic white women | No | 2012 | [75] | |
92/152 | Taiwanese | Positive | 2010 | [76] | ||
MMP10 | rs17435959 | 91/172 | Chinese | Positive | 2015 | [77] |
ESR1 | rs2234693 | 88/108 | Chinese | Positive | 2019 | [78] |
rs17847075 | 88/108 | Chinese | Positive | 2019 | [78] | |
rs2228480 G/A | 26/26 | Israel | Positive | 2017 | [79] |
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Li, Y.; Li, Z.; Li, Y.; Gao, X.; Wang, T.; Huang, Y.; Wu, M. Genetics of Female Pelvic Organ Prolapse: Up to Date. Biomolecules 2024, 14, 1097. https://doi.org/10.3390/biom14091097
Li Y, Li Z, Li Y, Gao X, Wang T, Huang Y, Wu M. Genetics of Female Pelvic Organ Prolapse: Up to Date. Biomolecules. 2024; 14(9):1097. https://doi.org/10.3390/biom14091097
Chicago/Turabian StyleLi, Yuting, Zihan Li, Yinuo Li, Xiaofan Gao, Tian Wang, Yibao Huang, and Mingfu Wu. 2024. "Genetics of Female Pelvic Organ Prolapse: Up to Date" Biomolecules 14, no. 9: 1097. https://doi.org/10.3390/biom14091097