Influence of oxytocin receptor single nucleotide sequence variants on contractility of human myometrium: an in vitro functional study

Table 2 Overview of the single-nucleotide sequence variants considered in the present work

Variant	Variant-type	Position (Ch37) ^a	MAF (Eur.) ^b	MAF (study) ^c	Genotype (REF/MA)	Association
rs1042778	3’UTR	g.8794545	0.38	0.41	(G/T)	maximal oxytocin infusion rate / total oxytocin dose [11]
rs11706648	Intron	g.8796547	0.32	0.28	(A/C)	maximal oxytocin infusion rate [11]
rs237888	Intron	g.8797095	0.06	0.05	(T/C)	cesarean section [11]
rs4686301	Intron	g.8798586	0.31	0.26	(C/T)	maximal oxytocin infusion rate / total oxytocin dose [11]
rs53576	Intron3	g.8804371	0.35	0.34	(G/A)	time from latent to active labor [10]
rs237895	Intron	g.8807423	0.41	0.42	(C/T)	maximal oxytocin infusion rate [11]
rs237902	Exon 3	g.8809184	0.33	0.32	(G/A)	preterm birth (suggestive) [8]
rs4686302	Exon 3	g.8809222	0.12	0.13	(C/T)	preterm birth [8]

MAF Minor allele frequency
REF/MA Reference /Minor Allele gene
^a position according to the genomic reference sequence NCBI Build 37.3 GRCh37.p5 assembly
^b in the European population (all available EUR subgroups) according to the 1000 Genomes EUR population (SNPnexus http://snp-nexus.org)
^c in the present study population

ISSN: 1471-2350