Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population

Abstract

We have characterised a novel structural variation in human ESR1 gene. The available data indicate a deleterious action of the ESR1 deletion in both male and couple fertility. The potential effects of this deletion on other oestrogen-related diseases need to be determined.

Common Variants of the Liver Fatty Acid Binding Protein Gene Influence the Risk of Type 2 Diabetes and Insulin Resistance in Spanish Population

“…This study also included a large number of subjects but in the same way as we did with Hortega, those subjects with low genotyping call rate were not included. Description of the sampling methodology and characteristics of this study were previously published [14], [15].…”

Estrogen receptor α single nucleotide polymorphism modifies the risk of azoospermia in childhood cancer survivors

“…Interestingly, among the patients from the general population, carriers of an Aallele in rs2207396 also presented with significantly lower sperm concentration than their counterparts with a G in the same position. An interstitial deletion of ERa in the same gene region has also been associated with idiopathic male infertility [28].…”

ESR1 promoter polymorphism is not associated with nonsyndromic cryptorchidism

“…The distribution pattern of TA alleles in this study population shows two major peaks at 13-15 and 20-24 repeats and a lower distribution of intermediate [16][17][18][19] repeat alleles. According to previous studies (17,21), we established three allele groups: [1] group H, including alleles with a high number of TA repeats (TA R20); [2] group M, including alleles with a medium number of TA repeats (15< TA <20); and [3] group L, including low TA alleles (TA %15).…”

“…The median number (range) of the TA repeat was 15 (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26) and 15 (7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26) for the cryptorchid and control groups, respectively. The allelic distribution of patients with unilateral and bilateral cryptorchidism was similar, with median values of 16 (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26...…”

“…Although the literature on ESR1 polymorphisms and cryptorchidism is limited to the AGATA haplotype (SNP12), ESR1 polymorphisms have been extensively analyzed in relationship to male infertility/spermatogenic impairment or hypospadias (15)(16)(17)(18)(19)(20). Among them the (TA) n variable number of tandem repeat polymorphism within the promoter region of ESR1 gene seems to be the most promising because its position in the promoter implies a potential regulatory function.…”