Genetic Study Of Pelvic Organ Prolapse

Background and objectives:Pelvic organ prolapse(POP)is a common female pelvic floor dysfunction.Current researches show that onset of POP necessitates genetic and environmental factors.However,genetic work about POP still remains necessary with no definitive conclusions of pathogenic genes.Materials and Methods:Our research group has found eleven POP families from the outpatient department of Obstetrics and Gynecology at Peking Union Medical College Hospital.Clinical information and peripheral blood samples were collected from probands and some family members.11 probands were performed of Whole-Genome Sequencing(WGS).This experiment complemented the clinical information and peripheral blood samples of some other family members.Meanwhile,peripheral blood samples of over 100 general population and over 60 sporadic POP patients were collected.Sanger sequencing and validation was performed on probands and family members.Further validation was conducted in general population and sporadic POP patients.Results:34 candidate genes,including 61 single nucleotide polymorphism(SNP)and 2 insertion/deletion(InDel).Among them,4 candidate genes,consisting of 6 SNPs,were screened after Sanger sequencing in the family.Combined with the sequencing results of general population and sporadic POP patients,those above 6 SNPs do not meet the criteria of co-segregation of phenotype and genotype.Therefore,we do not consider PRRC1(rs 185192084),FKBP4(rs 145261648),LRRC40(rs143005597),LRRC40(rs200628762),FBN3(rs 199641502),FBN3(rs149496112)as the responsive loci causing POP.Conclusion:We do not consider PRRC1(rs 185192084),FKBP4(rs145261648),LRRC40(rs143005597),LRRC40(rs200628762),FBN3(rs 199641502),FBN3(rs149496112)as the possible genetic loci of causing POP.