Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 21429654
Gene Name MUC1
Condition Endometriosis
Association Associated
Mutation rs1801133 of MTHFR and rs4244593 of PEMT
Population size 313
Population details 313 (163 women with endometriosis, 150 controls)
Sex Female
Infertility type Female infertility
Associated genes BHMT, BHMT2, CBS, CHDH, CHKA, MTHFD1,MTHFR, MTR, MTRR, PCYT1A, PEMT, TCN
Other associated phenotypes Endometriosis-associated infertility
Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.

Eur J Obstet Gynecol Reprod Biol. 2011 Jul;157(1):67-72. doi:

Szczepanska, Malgorzata| Mostowska, Adrianna| Wirstlein, Przemyslaw| Lianeri, Margarita| Marianowski, Piotr| Skrzypczak, Jana| Jagodzinski, Pawel P

Department of Obstetrics, Gynecology and Gynecological Oncology, Division of Reproduction, Poland.

OBJECTIVE: Endometriosis has been considered an epigenetic disease. Single nucleotide polymorphisms (SNPs) located in genes encoding enzymes of the folate and choline metabolism may affect DNA methyltransferase activity. STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women. RESULTS: There were no significant differences between genotype and allele frequencies of these gene variants in infertile women with endometriosis (n=163) and controls (n=150). The lowest, but not statistically significant, p values of the trend test were observed for the CBS 844ins68 and MTR rs1805087 (ptrend=0.0527 and ptrend=0.0771, respectively) polymorphisms. However, the exhaustive multifactor dimensionality reduction analysis revealed an epistatic interaction between rs1801133 of MTHFR and rs4244593 of PEMT in endometriosis-associated infertility (p=0.0240). CONCLUSIONS: Our results showed moderate evidence for the contribution of SNPs located in genes encoding folate and choline metabolism enzymes to infertility in women with endometriosis.

Mesh Terms: Adult| Choline/*metabolism| Endometriosis/*genetics/physiopathology| Female| Folic Acid/*metabolism| Gene Frequency| Genetic Association Studies| Humans| Infertility, Female/*etiology| Methylenetetrahydrofolate Reductase (NADPH2)/*genetics| Mult