Young Joo Jeon1, Young Ran Kim2, Bo Eun Lee1, Sun Hee Cha2, Myoung-Jin Moon2, Doyeun Oh3, Woo Sik Lee4, Nam Keun Kim5. 1. Institute for Clinical Research, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea. 2. Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea. 3. Department of Internal Medicine, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea. 4. Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 135-081, South Korea. 5. Institute for Clinical Research, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea. Electronic address: namkkim@naver.com.
Abstract
OBJECTIVE: To investigate the association between potentially functional plasminogen activator inhibitor-1 (PAI-1) genetic polymorphisms and primary ovarian insufficiency (POI). DESIGN: Case-control study. SETTING: Urban university-based hospital. PATIENT(S): A cohort of 137 POI patients and 227 controls. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotyping of five PAI-1 polymorphisms (-844G>A [rs2227631], -675 4G/5G [rs1799889], 43G>A (Ala>Thr) [rs6092], 9785G>A [rs2227694], and 11053T>G [rs7242]) was assessed by polymerase chain reaction-restriction fragment length polymorphism assay. RESULT(S): PAI-1 polymorphisms 9785GA+AA, -844A/9785A, 4G/9785A, and 9785A/11053G were associated with POI occurrence. Moreover, -844GA+AA and 11053TG+GG were associated with lower serum E2 levels in controls. CONCLUSION(S): We have identified an association between five PAI-1 polymorphisms and POI occurrence. However, the mechanism underlying the function of these polymorphisms in POI remains to be determined. Further studies are needed to improve understanding of the roles of PAI-1 polymorphisms and genes in related pathways, using a larger and more heterogeneous cohort.
OBJECTIVE: To investigate the association between potentially functional plasminogen activator inhibitor-1 (PAI-1) genetic polymorphisms and primary ovarian insufficiency (POI). DESIGN: Case-control study. SETTING: Urban university-based hospital. PATIENT(S): A cohort of 137 POI patients and 227 controls. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotyping of five PAI-1 polymorphisms (-844G>A [rs2227631], -675 4G/5G [rs1799889], 43G>A (Ala>Thr) [rs6092], 9785G>A [rs2227694], and 11053T>G [rs7242]) was assessed by polymerase chain reaction-restriction fragment length polymorphism assay. RESULT(S): PAI-1 polymorphisms 9785GA+AA, -844A/9785A, 4G/9785A, and 9785A/11053G were associated with POI occurrence. Moreover, -844GA+AA and 11053TG+GG were associated with lower serum E2 levels in controls. CONCLUSION(S): We have identified an association between five PAI-1 polymorphisms and POI occurrence. However, the mechanism underlying the function of these polymorphisms in POI remains to be determined. Further studies are needed to improve understanding of the roles of PAI-1 polymorphisms and genes in related pathways, using a larger and more heterogeneous cohort.
Authors: Hee Young Cho; Han Sung Park; Eun Hee Ahn; Eun Ju Ko; Hyeon Woo Park; Young Ran Kim; Ji Hyang Kim; Woo Sik Lee; Nam Keun Kim Journal: J Pers Med Date: 2021-12-16