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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, Daeun, Kim, Ji Hyang, Lee, Woo Sik, Kim, Nam Keun
Genes & genomics 2019 v.41 no.1 pp. 61-70
Koreans, biomarkers, blood coagulation, confidence interval, females, genes, genetic polymorphism, genotype, genotyping, high-throughput nucleotide sequencing, odds ratio, pregnancy, prognosis, prothrombin, quantitative polymerase chain reaction, screening, women, South Korea
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.