Table 1.

Variants in eIF4E and eIF4ENIF1 Identified in Women With POI

Chrom Number	Chrom Pos (in HG19)	Target Name	Ref. Base	Variant Found	Variant Name	Variant Function	Reference Codon	Variant Codon	Nucleotide Change	Ethnicitya	POI MAFb	Control MAF	P Value
4	99 850 297	EIF4E exon 1	T	TC	rs14990298	Intronic				EA	0.014	0.0029	.1
4	99 850 284	EIF4E exon 1	G	C	rs72905084	Intronic				AA	NA	0.053	NDc
4	99 808 254	EIF4E exon 5	C	T	rs62323192	Coding, Synon.	GAC = Asp	GAT = Asp	375C>T	EA	0.263	0.287	.6
4	99 808 225	EIF4E exon 5	G	Ad	Novel	Intronic				EA	0.014	NA	ND
22	31 859 859	EIF4ENIF1 exon 5	T	C	rs5753627	Coding, Synon.	GTT = Val	GTC = Val	393T>C	EA	0.041	0.078	.2
22	31 844 270	EIF4ENIF1 exon 13	C	T	rs9621258	Intronic				EA	0.014	0.057	.1
22	31 843 567	EIF4ENIF1 exon 14	C	G	rs2273251	Intronic				AA/EA	0.276	0.202	.2
22	31 838 085	EIF4ENIF1 exon 17	C	T	rs5997988	Coding, Synon.	AGC = Ser	AGT = Ser	1704C>T	AA/EA	0.434	0.447	.8

Abbreviations: AA, African American woman; Chrom, Chromosome; EA, European Americans; MAF, minor allele frequency; NA, not applicable; ND, not determined; Pos, position; Ref, reference; Synon, synonymous. The frequencies of the variants identified in 38 women with POI are not different from those in the control population, with the exception of one novel intronic variant in eIF4E of unclear significance.

^aEthnicity refers to the ethnicity of the subject(s) with POI that carries the variant allele.

^bThe POI minor allele frequency (POI MAF) is calculated as the number of variant alleles in a total of 74 alleles for variants found in European American women, 76 alleles for those found in both African American and European American women, and NA for the allele found in the single African American woman in the group.

^cND signifies that the P value was not applicable because the variant was found in the only African American subject or was a novel change.

^dThe novel variant in eIF4E exon 5 is a splice site region variant with a marginally decreased donor site (www.mutationtaster.org).