{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mika KM"],"funding":["NIH National Institute of General Medical Sciences","Burroughs Wellcome Preterm Birth Initiative","March of Dimes Prematurity Research Center","NIGMS NIH HHS"],"pagination":["509-521"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6174278"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["103(4)"],"pubmed_abstract":["Variation in female reproductive traits, such as fertility, fecundity, and fecundability, are heritable in humans, but identifying and functionally characterizing genetic variants associated with these traits have been challenging. Here, we explore the functional significance and evolutionary history of a G/A polymorphism at SNP rs2523393, which is an eQTL for HLA-F and is significantly associated with fecundability (the probability of being pregnant within a single menstrual cycle). We replicated the association between the rs2523393 genotype and HLA-F expression by using GTEx data and demonstrate that HLA-F is upregulated in the endometrium during the window of implantation and by progesterone in decidual stromal cells. Next, we show that the rs2523393 A allele creates a GATA2 binding si"],"journal":["American journal of human genetics"],"pubmed_title":["An Ancient Fecundability-Associated Polymorphism Creates a GATA2 Binding Site in a Distal Enhancer of HLA-F."],"pmcid":["PMC6174278"],"funding_grant_id":["T32GM007197","T32 GM007197","22-FY18-809","1013760"],"pubmed_authors":["Li X","Mika KM","Lynch VJ","DeMayo FJ"],"additional_accession":[]},"is_claimable":false,"name":"An Ancient Fecundability-Associated Polymorphism Creates a GATA2 Binding Site in a Distal Enhancer of HLA-F.","description":"Variation in female reproductive traits, such as fertility, fecundity, and fecundability, are heritable in humans, but identifying and functionally characterizing genetic variants associated with these traits have been challenging. Here, we explore the functional significance and evolutionary history of a G/A polymorphism at SNP rs2523393, which is an eQTL for HLA-F and is significantly associated with fecundability (the probability of being pregnant within a single menstrual cycle). We replicated the association between the rs2523393 genotype and HLA-F expression by using GTEx data and demonstrate that HLA-F is upregulated in the endometrium during the window of implantation and by progesterone in decidual stromal cells. Next, we show that the rs2523393 A allele creates a GATA2 binding si","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Oct","modification":"2026-04-08T13:33:28.635Z","creation":"2026-04-08T03:15:01.855Z"},"accession":"S-EPMC6174278","cross_references":{"pubmed":["30245028"],"doi":["10.1016/j.ajhg.2018.08.009"]}}