• PMID: 22591465
• Gene Name: SHBG
• Condition: Testicular maldescent
• Association: 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.
• Mutation: (TAAAA)n polymorphism
• Population size: 487
• Population details: 487 (180 children with all phenotypes of TMD, 307 parents (156 mothers and 151 fathers).)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Testicular maldescent

The (TAAAA)n polymorphism of sex hormone-binding globulin gene is not associated with testicular maldescent

Mamoulakis C, Sofikitis N, Tsounapi P, Vlachopoulou E, Chatzikyriakidou A, Antypas S, Tzortzakakis D, Sofras F, Takenaka A, Georgiou I.

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. CI - © 2012 Blackwell Verlag GmbH. FAU - Mamoulakis, C AU - Mamoulakis C AD - Department of Urology, University of Crete, Medical School, Heraklion, Crete, Greece. c.mamoulakis@med.uoc.gr FAU - Sofikitis, N AU - Sofikitis N FAU - Tsounapi, P AU - Tsounapi P FAU - Vlachopoulou, E AU - Vlachopoulou E FAU - Chatzikyriakidou, A AU - Chatzikyriakidou A FAU - Antypas, S AU - Antypas S FAU - Tzortzakakis, D AU - Tzortzakakis D FAU - Sofras, F AU - Sofras F FAU - Takenaka, A AU - Takenaka A