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来自COL3A1基因的rs1800255多态性与盆腔器官脱垂风险

Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse.

作者信息

Teixeira Fernando Henrique, Fernandes César Eduardo, do Souto Ricardo Peres, de Oliveira Emerson

机构信息

Faculdade de Medicina do ABC, Av. Lauro Gomes, 2000, Santo André, SP, CEP 09060-870, Brazil.

出版信息

Int Urogynecol J. 2020 Jan;31(1):73-78. doi: 10.1007/s00192-019-03965-2. Epub 2019 Apr 30.

Abstract

INTRODUCTION AND HYPOTHESIS

Genetic variations of type III collagen may compromise the supportive structures of the female pelvic floor and consequently favor pelvic organ prolapse. The single nucleotide polymorphism G/A rs1800255 located in the coding region for type III collagen (COL3A1) was evaluated as a risk factor for pelvic organ prolapse.

METHODS

A single-center prospective cohort study including women with clinical diagnosis of stage III and IV prolapse (POP group) and prolapse stage 0 or I (control group). Sociodemographic, clinical data and obstetric history were retrieved by physician interview. DNA including the rs1800255 polymorphism was amplified by polymerase chain reaction from blood genomic cells and digested with AluI restriction enzyme for distinction of G and A variants. Qualitative variables were compared using the chi-square and Fisher's exact tests and unpaired t-test for quantitative variables. After stratification of the groups, risk factors for POP were estimated using odds ratios (ORs) from the binary logistic regression model.

RESULTS

A total of 292 women were included, 112 in the POP group and 180 in the control group. There was no significant difference between groups regarding rs1800255. Age and home birth were the only significant risk factors for pelvic organ prolapse.

CONCLUSION

Polymorphism rs1800255 from COL3A1 gene was not a risk factor for pelvic organ prolapse.

摘要

引言与假设

III型胶原蛋白的基因变异可能会损害女性盆底的支撑结构,从而增加盆腔器官脱垂的风险。位于III型胶原蛋白(COL3A1)编码区的单核苷酸多态性G/A rs1800255被评估为盆腔器官脱垂的一个风险因素。

方法

一项单中心前瞻性队列研究,纳入临床诊断为III期和IV期脱垂的女性(盆腔器官脱垂组)以及脱垂0期或I期的女性(对照组)。通过医生访谈收集社会人口统计学、临床数据和产科病史。从血液基因组细胞中通过聚合酶链反应扩增包含rs1800255多态性的DNA,并用AluI限制性内切酶消化以区分G和A变体。定性变量采用卡方检验和Fisher精确检验进行比较,定量变量采用非配对t检验。对分组进行分层后,使用二元逻辑回归模型的比值比(OR)估计盆腔器官脱垂的风险因素。

结果

共纳入292名女性,盆腔器官脱垂组112名,对照组180名。关于rs1800255,两组之间无显著差异。年龄和在家分娩是盆腔器官脱垂仅有的显著风险因素。

结论

COL3A1基因的rs1800255多态性不是盆腔器官脱垂的风险因素。

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