title: MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility.
abstract: BACKGROUND
  Mucin 4 (MUC4) plays an important role in protecting and lubricating the epithelial surface of reproductive tracts, but its role in the pathogenesis of endometriosis is largely unknown.
  
  
  METHODS
  To correlate MUC4 polymorphism with the risk of endometriosis and endometriosis-related infertility, we performed a case-control study of 140 patients and 150 healthy women. Six unique single-nucleotide polymorphisms (SNPs) (rs882605, rs1104760, rs2688513, rs2246901, rs2258447 and rs2291652) were selected for this study. DNA fragments containing the target SNP sites were amplified by polymerase chain reaction using the TaqMan SNP Genotyping Assay System to evaluate allele frequency and distribution of genotype in MUC4 polymorphisms.
  
  
  RESULTS
  Both the T/G genotype of rs882605 and the frequency of haplotype T-T (rs882605 and rs1104760) were higher in patients than in controls and were statistically significant. The frequency of the C allele at rs1104760, the C allele at rs2688513, the G allele at rs2246901 and the A allele at rs2258447 were associated with advanced stage of endometriosis. Moreover, the G allele at rs882605 was verified as a key genetic factor for infertility in patients. Protein sequence analysis indicated that amino acid substitutions by genetic variations at rs882605, rs2688513 and rs2246901 occur in the putative functional loops and the type D von Willebrand factor (VWFD) domain in the MUC4 sequence.
  
  
  CONCLUSIONS
  MUC4 polymorphisms are associated with endometriosis development and endometriosis-related infertility in the Taiwanese population.
authors.affiliation: Human Genetic Center, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Cherry Yin-Yi
authors.initials: CY
authors.lastname: Chang
authors.forename: Hui-Wen
authors.initials: HW
authors.lastname: Chang
authors.forename: Chih-Mei
authors.initials: CM
authors.lastname: Chen
authors.forename: Chia-Ying
authors.initials: CY
authors.lastname: Lin
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Chih-Ho
authors.initials: CH
authors.lastname: Lai
authors.forename: Wei-Yong
authors.initials: WY
authors.lastname: Lin
authors.forename: Hsing-Ping
authors.initials: HP
authors.lastname: Liu
authors.forename: Jim Jinn-Chyuan
authors.initials: JJ
authors.lastname: Sheu
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007246:Infertility / Q000235:genetics*; D055264:Mucin-4 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan
chemical_list: C524658:MUC4 protein, human; D055264:Mucin-4