The importance of this has been recently highlighted in a GWAS meta-analysis where it was identified that the SNP rs804279 in the GATA4/NEIL2 gene loci was strongly associated with the NIH diagnostic criteria, which encompasses only hyperandrogenic PCOS phenotypes, compared to the Rotterdam criteria, which also encompasses the non-hyperandrogenic PCOS phenotypes [17]. Here, GATA4 is linked to polycystic ovary syndrome.