Open AccessAssociation of genetic variants of PD 1 with recurrent pregnancy loss
Author(s) -
Hayashi Yuko,
Nishiyama Takeshi,
Nakatochi Masahiro,
Suzuki Shugo,
Takahashi Satoru,
SugiuraOgasawara Mayumi
Publication year - 2018
Publication title -
reproductive medicine and biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.005
H-Index - 22
eISSN - 1447-0578
pISSN - 1445-5781
DOI - 10.1002/rmb2.12093
Subject(s) - single nucleotide polymorphism , pregnancy , allele , medicine , genetic association , obstetrics , gene , oncology , genetics , genotype , biology
Purpose Programmed cell death 1 ( PD 1) and PD ligand 1 ( PDL 1) are speculated to have an important role in maintaining a normal pregnancy and there are also a few reports of an association between the single‐nucleotide polymorphisms ( SNP s) of PD 1 or PDL 1 and diseases in humans. The association was examined between the polymorphisms of PD 1 , PDL 1 , CTLA 4 and recurrent pregnancy loss ( RPL ). Methods The study group consisted of 243 women with two or more pregnancy losses and 176 parous women. The frequency of three SNP s of PD 1, two of PDL 1 , and four of CTLA 4 were compared between the patients and controls. Next, the subsequent live birth rates in the patients with RPL with and without risk alleles were examined. Results Two SNP s (rs36084323 and rs3481962) of PD 1 were found to occur at significantly higher frequencies in the patient group than in the control group. The subsequent live birth rate of the patients with vs. without the risk alleles of rs36084323 and rs3481962 were 83.3% vs. 83.3% and 81.6% vs. 84.0%, respectively. Conclusion Variations of the PD 1 gene were identified as risk factors for RPL . However, the presence or absence of the PD 1 risk alleles had no predictive effect on the subsequent pregnancy outcome.