Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias
Authors' conclusion
The results reveal that ΔESR1, which has been registered as "DEL_6_75504" in gnomAD SVs v2.1, is the true susceptibility factor for cryptorchidism and hypospadias. It appears that ΔESR1 was produced in a single ancestral founder of modern humans and has been maintained within the genome of multiple ethnic groups by selection.
Study context
- Population
- Italian boys (hitherto unreported) and previously reported and newly recruited Japanese boys230 Italian, 415 Japanese
- Participants
- 80 / 150 / 149 / 141 / 125
- Comparison
- Cryptorchidism or hypospadias vs normal genitalia
- Italian cryptorchidismn = 80
- Italian normal genitalian = 150reference
- Japanese cryptorchidismn = 149
- Japanese hypospadiasn = 141
- Japanese normal genitalian = 125reference
- Outcome
- ΔESR1 (2249-bp ESR1 intron 6 microdeletion) and cryptorchidism/hypospadias
Methodological detailshaplotype analysis, whole genome sequencing, Cochran-Armitage trend test, in vitro expression analyses (MCF-7 cells)
- Haplotype analysis
- Whole genome sequencing
- Cochran-Armitage trend test
- In vitro expression analyses (MCF-7 cells)
Main finding
As reported in the abstract
- "AGATC" haplotype positively associated with cryptorchidism in Italian boys
- Identical 2249-bp microdeletion (ΔESR1), from a microhomology-mediated replication error, in Japanese and Italian boys with the haplotype
- ΔESR1 strongly associated with cryptorchidism and hypospadias (Cochran-Armitage trend test)
- ΔESR1 in nearly absolute linkage disequilibrium (LD) with the "AGATC" haplotype
- ESR1 expression upregulated in MCF-7 cells with homozygous deletion encompassing ΔESR1 or involving a CTCF-binding site within ΔESR1
Original publication
Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias. J Clin Endocrinol Metab. Published 3 April 2023. doi:10.
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