Single-nucleotide polymorphisms in the lysyl oxidase-like protein 4 and complement component 3 genes are associated with increased risk for endometriosis and endometriosis-associated infertility

Fertil Steril. 2011 Aug;96(2):512-5. doi: 10.1016/j.fertnstert.2011.06.001. Epub 2011 Jul 5.

Abstract

This study was conducted to assess genetic associations with endometriosis in a Puerto Rican population. Statistically significant differences in the allelic frequencies and genotype distribution of genetic variants in lysyl oxidase-like protein 4 (LOXL4) and complement component 3 (C3) were documented in patients with endometriosis-associated infertility versus controls, and in patients with endometriosis versus controls, respectively. In women who have the risk genotype at both single-nucleotide polymorphisms, the estimated risk for endometriosis nearly doubled.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Amino Acid Oxidoreductases / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • Complement C3 / genetics*
  • Endometriosis / complications
  • Endometriosis / enzymology
  • Endometriosis / genetics*
  • Endometriosis / immunology
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Infertility, Female / enzymology
  • Infertility, Female / genetics*
  • Infertility, Female / immunology
  • Linkage Disequilibrium
  • Odds Ratio
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Protein-Lysine 6-Oxidase
  • Puerto Rico
  • Risk Assessment
  • Risk Factors

Substances

  • C3 protein, human
  • Complement C3
  • Amino Acid Oxidoreductases
  • LOXL4 protein, human
  • Protein-Lysine 6-Oxidase