Effect of stimulation protocol on the risk of luteinized unruptured follicle (LUF) in polycystic ovarian syndrome (PCOS):does LUF affect luteal phase profile? (original) (raw)
sequence was screened for novel and known bi-allelic SNPs. Polymorphisms were tested under linkage disequilibrium analysis to define markers representing total sequence variation and haplotype blocks in this population. Newly identified tagging SNPs were then evaluated by TaqMan genotyping in 96 age matched normal responders (>6 antral follicles, 6-13 oocytes retrieved). RESULTS: Sequence analysis identified 5 tagging SNPs captured all AMHR2 haplotypes effectively (dbSNP IDs; rs2002555, rs2272002, rs2071558, rs3741664, rs11170555). Subsequent haplotyping of a case/control population identified a diverse haplotype distribution in both populations. Unique haplotypes were only identified in the poor responder group at a small percentage (3.2%), suggesting that a larger population is needed to fully validate their significance. CONCLUSIONS: Evaluation of genetic heterogeneity of AMHR2 requires characterization of at least 5 tagging SNPs. Initial evaluation suggests a specific haplotype may increase the probability of poor ovarian responsiveness. Larger studies evaluating this relationship with ovarian responsiveness and reserve are ongoing.