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

Department of Microbiology, Ponce School of Medicine and Health Sciences, Ponce, Puerto Rico 00716-2348, USA.
Fertility and sterility (Impact Factor: 4.59). 08/2011; 96(2):512-5. DOI: 10.1016/j.fertnstert.2011.06.001
Source: PubMed


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.

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    • "That LOX was expressed in 79% of human breast cancers revealed the attenuated metastasis of human breast cancer cells by a downregulation of adhesion kinase and the paxillin-signaling pathway [128,136]. SNPs in the LOX-like protein 4 were reported in patients with endometriosis, a semi-malignant tumor [137]. LOX overexpression can be found in myofibroblasts and myoepithelial cells around in situ tumors and at the invasion front of infiltrating breast cancers [129]. "
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    • "To date, the genetic risk factors for endometriosis-related infertility have included the 17β-hydroxysteroid dehydrogenase type 1, ESR1, ESR2, and luteinizing hormone beta-subunit genes [30–33]. Furthermore, polymorphisms situated in FOXP, complement component 3, and lysyl oxidase-like protein 4 genes have also been reported as genetic factors which affect fertility in women with endometriosis [27, 34]. "
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