• PMID: 22245602
• Gene Name: ESR2
• Condition: Testicular germ cell cancer
• Association: The results suggest that polymorphisms in ESR1, ESR2 and LHCGR contribute to the risk of developing TGCC, histological subtype, and risk to metastasis.
• Mutation: ESR2 (rs1256063), LHCGR (rs4597581, rs4953617, rs7371084), ESR1 (rs9397080)
• Population size: 581
• Population details: 581 (367 patients and 214 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ESR1, ESR2, LHCGR
• Other associated phenotypes: Male infertility

Association of polymorphisms in genes encoding hormone receptors ESR1, ESR2 and LHCGR with the risk and clinical features of testicular germ cell cancer

Brokken LJ, Lundberg-Giwercman Y, Rajpert De-Meyts E, Eberhard J, Ståhl O, Cohn-Cedermark G, Daugaard G, Arver S, Giwercman A.

Testicular germ cell cancer (TGCC) is the most common malignancy in young men. Genetic variants known to be associated with risk of TGCC only partially account for the observed familial risks. We aimed to identify additional polymorphisms associated with risk as well as histological and clinical features of TGCC in 367 patients and 214 controls. Polymorphisms in ESR2 (rs1256063; OR=0.53, 95% CI: 0.35-0.79) and LHCGR (rs4597581; OR=0.68, 95% CI: 0.51-0.89, and rs4953617; OR=1.88, 95% CI: 1.21-2.94) associated with risk of TGCC. Polymorphisms in ESR1 (rs9397080; OR=1.85, 95% CI: 1.18-2.91) and LHCGR (rs7371084; OR=2.37, 95% CI: 1.26-4.49) associated with risk of seminoma and metastasis, respectively. SNPs in ESR1 (rs9397080) and LHCGR (rs7371084) were predictors of higher LH levels and higher androgen sensitivity index in healthy subjects. The results suggest that polymorphisms in ESR1, ESR2 and LHCGR contribute to the risk of developing TGCC, histological subtype, and risk to metastasis. CI - Copyright © 2012 Elsevier Ireland Ltd. All rights reserved. FAU - Brokken, Leon J S AU - Brokken LJ AD - Department of Clinical Sciences, Molecular Reproductive Medicine, Lund University, Sweden. leon.brokken@med.lu.se FAU - Lundberg-Giwercman, Yvonne AU - Lundberg-Giwercman Y FAU - Rajpert De-Meyts, Ewa AU - Rajpert De-Meyts E FAU - Eberhard, Jakob AU - Eberhard J FAU - Ståhl, Olof AU - Ståhl O FAU - Cohn-Cedermark, Gabriella AU - Cohn-Cedermark G FAU - Daugaard, Gedske AU - Daugaard G FAU - Arver, Stefan AU - Arver S