Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 21733505
Gene Name C3
Condition Endometriosis
Association Associated
Population size 384
Population details 384 (147 controls without endometriosis or infertility, 214 subjects with endometriosis, with or without infertility, 72 subjects with endometriosis without known infertility problems, 73 subjects with endometriosis-associated infertility)
Sex Female
Infertility type Female infertility
Associated genes LOXL4, C3
Other associated phenotypes Endometriosis-associated infertility
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

Ruiz, Lynnette A| Dutil, Julie| Ruiz, Abigail| Fourquet, Jessica| Abac, Sonia| Laboy, Joaquin| Flores, Idhaliz

Department of Microbiology, Ponce School of Medicine and Health Sciences, Ponce, Puerto Rico 00716-2348, USA.

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.

Mesh Terms: Adult| Amino Acid Oxidoreductases/*genetics| Case-Control Studies| Chi-Square Distribution| Complement C3/*genetics| Endometriosis/complications/enzymology/*genetics/immunology| Female| Gene Frequency| Genetic Predisposition to Disease| Humans|