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27.01.2016 | Original Article

Polymorphism of 3′ UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report

verfasst von: Simmi K. Ratan, Anju Sharma, Seema Kapoor, Sunil K. Polipalli, Divya Dubey, Tarun K. Mishra, Shandip K. Sinha, Satish K. Agarwal

Erschienen in: Pediatric Surgery International | Ausgabe 5/2016

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Abstract

Objective

To study MAMLD1 gene polymorphisms, serum LH and testosterone levels amongst Indian children with isolated hypospadias (IH) and controls.

Materials and methods

Screening of the MAMLD1 gene was performed by PCR sequencing method in 100 Indian children aged 0–12 years presenting with IH and 100 controls. LH and testosterone hormone levels were also assessed (categorized in four age-wise groups).

Results

IH subjects had significantly higher incidence of MAMLD1 polymorphism as compared to controls (33 vs 15 %, p = 0.01). Of various genomic variants identified in this study, the noteworthy novel ones were missense mutation P299A and single nucleotide polymorphism c.2960C>T in 3′ UTR of Exon 7. While p 299A was found to cause protein structural instability consequent to amino acid change, eighty percent subjects with c.2960C>T in 3′ UTR of Exon 7 (corresponding to newly discovered currently non-validated exon 11) were found to have lower testosterone levels when compared with their age group mean. IH showed statistically higher incidence of c.2960C>T in comparison to controls (22 vs 10 %, p value 0.046) and about 2.5-folds higher risk of this anomaly.

Conclusion

Occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3′ UTR of its exon 7 is associated with a higher risk of IH in Indian children, probably by lowering androgenic levels.

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Titel: Polymorphism of 3′ UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report
verfasst von: Simmi K. Ratan
Anju Sharma
Seema Kapoor
Sunil K. Polipalli
Divya Dubey
Tarun K. Mishra
Shandip K. Sinha
Satish K. Agarwal
Publikationsdatum: 27.01.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Surgery International / Ausgabe 5/2016
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-016-3856-7

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Polymorphism of 3′ UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report