title: Single nucleotide polymorphisms associated with nonsyndromic cryptorchidism in Mexican patients.
abstract: Cryptorchidism is a frequent genitourinary malformation considered as an important risk factor for infertility and testicular malignancy. The aetiology of cryptorchidism is multifactorial in which certain SNPs, capable of inhibiting the development of the gubernaculum, are implicated. We analysed 16 SNPs by allelic discrimination and automated sequencing in 85 patients and 99 healthy people, with the objective to identify the association between these variants and isolated cryptorchidism. In two different patients with unilateral cryptorchidism, we found the variants rs121912556 and p.R105R of INSL3 gene in a heterozygous form associated with cryptorchidism, so we could considered them as risk factors for cryptorchidism. On the other hand, SNPs rs10421916 of INSL3 gene, as well as the variants rs1555633 and rs7325513 in the RXFP2 gene, and rs3779456 variant of the HOXA10 gene were statistically significant, when the patients and controls were compared and could be considered as protective factors since are predominantly present in controls. The genotype-phenotype correlation did not show statistical significance. With these results, we could conclude that these polymorphisms can be considered as important variants in our population and would contribute in the future knowledge of the aetiology and physiopathology of cryptorchidism.
authors.affiliation: Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, México.
authors.forename: M
authors.initials: M
authors.lastname: Chávez-Saldaña
authors.affiliation: Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, México.
authors.forename: R M
authors.initials: RM
authors.lastname: Vigueras-Villaseñor
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México.
authors.forename: E
authors.initials: E
authors.lastname: Yokoyama-Rebollar
authors.affiliation: Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, México.
authors.forename: D A
authors.initials: DA
authors.lastname: Landero-Huerta
authors.affiliation: Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, México.
authors.forename: J C
authors.initials: JC
authors.lastname: Rojas-Castañeda
authors.affiliation: Laboratorio de Genética Molecular y Farmacogenética, Instituto Nacional de Cancerología, Ciudad de México, México.
authors.forename: L
authors.initials: L
authors.lastname: Taja-Chayeb
authors.affiliation: Servicio de Urología, Instituto Nacional de Pediatría, Ciudad de México, México.
authors.forename: J O
authors.initials: JO
authors.lastname: Cuevas-Alpuche
authors.affiliation: Departamento de Biología de la Reproducción, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, México.
authors.forename: E
authors.initials: E
authors.lastname: Zambrano
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007328:Insulin / Q000097:blood / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008800:Mexico; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D043562:Receptors, G-Protein-Coupled / Q000235:genetics
chemical_list: D000080905:Homeobox A10 Proteins; D018398:Homeodomain Proteins; D007328:Insulin; C084797:Leydig insulin-like protein; D011506:Proteins; C472867:RXFP2 protein, human; D043562:Receptors, G-Protein-Coupled; C069634:HOXA10 protein, human
keywords: 
  HOXA10
  ; 
  INSL3
  ; LGR8/GREAT (RXFP2); isolated cryptorchidism