PMID- 22222969 OWN - NLM STAT- MEDLINE DCOM- 20130123 LR - 20220331 IS - 1347-4715 (Electronic) IS - 1342-078X (Print) IS - 1342-078X (Linking) VI - 17 IP - 5 DP - 2012 Sep TI - Failure to detect significant association between estrogen receptor-alpha gene polymorphisms and endometriosis in Japanese women. PG - 423-8 LID - 10.1007/s12199-011-0259-1 [doi] AB - OBJECTIVES: The aim of the study was to test whether estrogen receptor 1 (ESR1) gene polymorphisms are correlated with the risk of the development of endometriosis in Japanese women, as a preliminary study. METHODS: To compare allelic frequencies and genotype distributions, a case-control study of 100 affected women and 143 women with no evidence of disease was performed using 10 microsatellite repeat markers and 66 single-nucleotide polymorphisms (SNPs) in the ESR1 gene region. RESULTS: Although our results might be insufficient to detect genetic susceptibility, owing to the small sample size and low genetic power, statistical analysis of the differences in allelic frequency between the cases and controls at each microsatellite locus demonstrated that no microsatellite locus in the ESR1 gene displayed a significant association with the disease when multiple testing was taken into account. Also, there were no statistically significant differences in the SNP allele frequencies and genotypes between the cases and controls when multiple testing was taken into account. CONCLUSION: The findings in our pilot study suggest that ESR1 polymorphisms do not contribute to endometriosis susceptibility. FAU - Matsuzaka, Yasunari AU - Matsuzaka Y AD - Division of Basic Molecular Science and Molecular Medicine, School of Medicine, Tokai University, Bohseidai, Isehara, Kanagawa, Japan. yasunari.matsuzaka@helmholtz-muenchen.de FAU - Kikuti, Yukie Y AU - Kikuti YY FAU - Izumi, Shun-ichiro AU - Izumi S FAU - Goya, Kenichi AU - Goya K FAU - Suzuki, Takahiro AU - Suzuki T FAU - Cai, Li-yi AU - Cai LY FAU - Oka, Akira AU - Oka A FAU - Inoko, Hidetoshi AU - Inoko H FAU - Kulski, Jerzy K AU - Kulski JK FAU - Kimura, Minoru AU - Kimura M LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120106 PL - Japan TA - Environ Health Prev Med JT - Environmental health and preventive medicine JID - 9609642 RN - 0 (ESR1 protein, human) RN - 0 (Estrogen Receptor alpha) SB - IM MH - Adult MH - Case-Control Studies MH - Endometriosis/epidemiology/*genetics MH - Estrogen Receptor alpha/*genetics MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease/epidemiology MH - Humans MH - Japan/epidemiology MH - Microsatellite Repeats MH - Middle Aged MH - Pilot Projects MH - Polymerase Chain Reaction MH - *Polymorphism, Genetic MH - Polymorphism, Single Nucleotide MH - Risk Factors PMC - PMC3437353 EDAT- 2012/01/10 06:00 MHDA- 2013/01/24 06:00 PMCR- 2013/09/01 CRDT- 2012/01/07 06:00 PHST- 2011/08/23 00:00 [received] PHST- 2011/11/29 00:00 [accepted] PHST- 2012/01/07 06:00 [entrez] PHST- 2012/01/10 06:00 [pubmed] PHST- 2013/01/24 06:00 [medline] PHST- 2013/09/01 00:00 [pmc-release] AID - 259 [pii] AID - 10.1007/s12199-011-0259-1 [doi] PST - ppublish SO - Environ Health Prev Med. 2012 Sep;17(5):423-8. doi: 10.1007/s12199-011-0259-1. Epub 2012 Jan 6.