|
KMID : 0381120190410010061
|
|
Genes and Genomics
2019 Volume.41 No. 1 p.61 ~ p.70
|
|
|
Association study of the three functional polymorphisms (TAS2R46G>A, OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss
|
|
Ryu Chang-Soo
Sakong Jung-Hyun
Ahn Eun-Hee
Kim Jung-Oh
Ko Da-Eun
Kim Ji-Hyang
Lee Woo-Sik
Kim Nam-Keun
|
|
|
Abstract
|
|
|
|
This study was purposed to investigate whether genetic polymorphisms in the function of stop-gain are associated with a fetal or placental development play roles and a development of idiopathic recurrent pregnancy loss (RPL) in Korean females. Three stop-gain polymorphisms were selected using next-generation sequencing screening, which allows for the rigorous examination and discovery of previously uncharacterized stop-gain genes and stop-gain expression profiles. Accordingly, we investigated the association of stop-gain polymorphisms in Korean women with RPL. Three functional polymorphisms in the TAS2R46G>A (rs2708381), OR4C16G>A (rs1459101), and OR4X1A>T (rs10838851) genes were genotyped using polymerase chain reaction (PCR)?restriction fragment length polymorphism assays and real-time PCR analysis. We determined that the OR4C16G>A polymorphism was associated with idiopathic RPL in Korean women (Adjusted odds ratio [AOR] 1.782; 95% confidence interval [CI] 1.004?3.163; P?=?0.048, and AOR 1.766; 95% CI 1.020?3.059; P?=?0.042). In addition, the prevalence of RPL was increased in women with the OR4C16GA?+?AA genotype and blood coagulation measures of prothrombin time (PT)?>?10.4 s (AOR 8.292; 95% CI 2.744?25.054). We suggest that the OR4C16G>A polymorphism might serve as a clinically useful biomarker for the development, prevention, and prognosis of RPL.
|
|
|
KEYWORD
|
|
|
Next-generation sequencing (NGS), Stop gain mutation, Nonsense mutation, Polymorphism, Recurrent pregnancy loss (RPL)
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
 
|
|