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The ( TAAAA ) n polymorphism of sex hormone‐binding globulin gene is not associated with testicular maldescent
Author(s) -
Mamoulakis C.,
Sofikitis N.,
Tsounapi P.,
Vlachopoulou E.,
Chatzikyriakidou A.,
Antypas S.,
Tzortzakakis D.,
Sofras F.,
Takenaka A.,
Georgiou I.
Publication year - 2013
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/j.1439-0272.2012.01306.x
Subject(s) - sex hormone binding globulin , gene , globulin , biology , andrology , endocrinology , hormone , medicine , genetics , androgen
Summary The aim of this family‐based study was to investigate the potential association/genetic linkage of the ( TAAAA ) n polymorphism of sex hormone‐binding globulin gene proximal promoter with testicular maldescent ( TMD ). Genomic DNA was extracted from the peripheral blood of 487 subjects (174 index families): (i) 180 children with all phenotypes of TMD , (ii) 307 parents (156 mothers and 151 fathers). Conventional polymerase chain reaction amplification products were electrophoresed on 10% nondenaturating polyacrylamide gel and visualised by silver staining. After excluding ambiguous parental–child trios and most cases of index families with missing parental genotypes, 429 individuals were left for analysis: 138 completely typed nuclear families (five included a second affected child) and five child–parent couples (one parent missing). Eight fathers presented history of TMD , that is, a total of 156 cases with TMD were analysed. Alleles were analysed with the affected family‐based control method and logistic regression‐based extension of the transmission disequilibrium test for multiallelic loci. ( ΤΑΑΑΑ ) n polymorphism analysis revealed six alleles based on repeat numbers ( n = 5–10). No association/genetic linkage between the ( TAAAA ) n polymorphism and TMD was detected. Other factors should be investigated to potentially explain the genetic predisposition that seems to exist in at least a subgroup of these patients.