Abstract Book - 26th ESPU Congress, Joint Meeting with ICCS + SPU + AAP/SOU + AAPU + SFU

15:38 - 15:41

S2-2

(PP)

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INTERACTION BETWEEN MTHFR 677C>T AND PERICONCEPTIONAL FOLIC

ACID SUPPLEMENTATION IN THE RISK OF HYPOSPADIAS

Elisabeth M.J. DOKTER

, Iris A.L.M. VAN ROOIJ

, Charlotte H.W. WIJERS

, Johanne M. GROOTHUISMINK

, Jan Jaap VAN

DER BIEZEN

, Wout F.J. FEITZ

, Nel ROELEVELD

and Loes F.M. VAN DER ZANDEN

1) Radboud Institute for Health Sciences, Radboud university medical center, Department for Health Evidence,

Nijmegen, NETHERLANDS - 2) Radboud Institute for Health Sciences, Radboud university medical center, Department of

Human Genetics, Nijmegen, NETHERLANDS - 3) Medical Centre Leeuwarden, Department of Plastic Surgery and Hand

Surgery, Leeuwarden, NETHERLANDS - 4) Radboudumc Amalia Children's Hospital, Radboud university medical center,

Department of Urology, Paediatric Urology, Nijmegen, NETHERLANDS - 5) Radboudumc Amalia Children's Hospital,

Radboud university medical center, Department of Paediatrics, Nijmegen, NETHERLANDS

PURPOSE

Hypospadias is a congenital malformation of the penis with the meatus located on the ventral side. Both environmental

factors and genetic predisposition are believed to play a role in the pathogenesis. As adequate folate levels are essential

during embryogenesis but are reduced by the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR)

gene, we studied the role of maternal periconceptional use of folic acid supplements and the mother and child MTHFR

C677T polymorphism in the etiology of hypospadias.

MATERIAL AND METHODS

We conducted a case-control study among 914 hypospadias cases and 711 population-based controls from a large data-

and biobank, born between 1990 and 2012. Information on folic acid use was derived from maternal questionnaires and

DNA from mother and child was used to assess the MTHFR C677T polymorphism using Taqman assays. In the analyses,

we assumed a dominant effect of the polymorphism.

RESULTS

Preliminary univariable analyses showed a small protective effect of folic acid supplements on the risk of hypospadias

(OR=0.8, 95%CI: 0.6-1.0). No associations were found for mother or child MTHFR C677T polymorphisms (both OR=1.1;

95%CI: 0.9-1.4). However, lack of folic acid supplement use in combination with carrying the MTHFR C677T

polymorphism increased the risk of hypospadias (child: OR=1.5; 95%CI: 1.1-2.1, mother: OR=1.5, 95%CI: 1.1-2.2).

CONCLUSIONS

This study showed an increased risk of hypospadias when no folic acid supplements were used and mother or child

carried the MTHFR C677T polymorphism.