Acrodermatitis enteropathica: case report and review of the literature.

INTRODUCTION

This case-control trial investigates the prevalence of COL3A1 and COL1A1 gene polymorphisms in female patients suffering pelvic organ prolapse (POP) and stress urinary incontinence (SUI) in comparison with controls.

MATERIAL AND

METHODS

Inclusion criteria were having one or more risk factors for SUI and POP. Exclusion criteria were hereditary connective tissue diseases as well as surgeries for POP/SUI for the control group. The rs1800255 polymorphism in COL3A1 gene was considered as a local substitution of guanine (G) for adenine (A). The rs1800012 polymorphism in COL1A1 gene was considered as a local substitution of guanine (G) for thymine (T). Genotyping was performed by Sanger sequencing method, followed by estimation of sensitivity and specificity for POP and SUI.

RESULTS

Fifty-two patients with POP and SUI (mean age 64.4 years) and 21 women were included in the control group (mean age 63.2 years). Homozygous genotype (AA) in COL3A1 was found in 10% of patients suffering from POP or SUI. No women in the control group had this genotype. The single nucleotide polymorphism (SNP) had high specificity (1.0) for POP/SUI, but low sensitivity (0.1). Heterozygous genotype (AG) in COL3A1 had a sensitivity equal to 0.47 and specificity of 0.62. Homozygous genotype (TT) in COL1A1 was found in only 2% of patients with POP/SUI, but was not found in controls. Heterozygous genotype (TG) in COL1A1 has sensitivity equal to 0.25 and specificity of 0.74.

CONCLUSIONS

POP/SUI patients have specific SNPs in COL1A1 and COL3A1 sequenced by Sanger method.