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

Autor: Ratan, Simmi, Sharma, Anju, Kapoor, Seema, Polipalli, Sunil, Dubey, Divya, Mishra, Tarun, Sinha, Shandip, Agarwal, Satish, Ratan, Simmi K, Polipalli, Sunil K, Mishra, Tarun K, Sinha, Shandip K, Agarwal, Satish K
Předmět:
Zdroj: Pediatric Surgery International; May2016, Vol. 32 Issue 5, p515-524, 10p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
Externí odkaz: