TY - JOUR

T1 - Association of Carboxylesterase 1 Gene (CES1) Polymorphism with Weight loss in Children with Attention Deficit Hyperactivity Disorder during Methylphenidate Treatment

AU - Oxenbøll , Maria

AU - Kaalund-Jørgensen, Kristine

AU - Rasmussen, Simone

AU - Bjerre, Ditte

AU - Jürgens, Gesche

AU - Hansen, Ebba Holme

AU - Plessen, Kerstin Jessica

AU - Rasmussen, Henrik Berg

AU - Pagsberg, Anne Katrine

PY - 2017

Y1 - 2017

N2 - Children with Attention Deficit Hyperactivity Disorder (ADHD) show large variations in response to methylphenidate (MPH) treatment, which may result from genetic factors associated with MPH metabolism. We aimed at investigating a possible link between the -75 T>G polymorphism in the 5’ untranslated region of the gene coding for carboxylesterase 1 (CES1) and a common adverse effect, weight loss, during the first three months of MPH treatment. We analyzed the association between a CES1 polymorphism and longitudinal clinical data based on retrospective analysis of medical records, from first to last recorded visit at the clinic. By use of poly chain reaction and the Sanger method we genotyped the -75 T>G gene polymorphism and examined the association to clinical response, which was based on retrospective analysis of longitudinal clinical data from medical records. The primary clinical outcome measure was weight loss during the first 3 months of MPH treatment. Data from 74 MPH treated children with ADHD, mean age 8.6 years, 57% males, were analysed. There were n=26 G-carriers (heterozygote TG and homozygote GG) and n=48 TT-homozygotes. The proportion of weight loss and mean weight change differed significantly in G-carriers (88% / -0.279 kg) compared with TT-homozygotes (31% / +0.157 kg). This study shows an association between the -75 T>G polymorphism in CES1 and MPH treatment response, demonstrated by a significantly higher frequency and extent of weight loss in G-carriers compared to TT-homozygotes.

AB - Children with Attention Deficit Hyperactivity Disorder (ADHD) show large variations in response to methylphenidate (MPH) treatment, which may result from genetic factors associated with MPH metabolism. We aimed at investigating a possible link between the -75 T>G polymorphism in the 5’ untranslated region of the gene coding for carboxylesterase 1 (CES1) and a common adverse effect, weight loss, during the first three months of MPH treatment. We analyzed the association between a CES1 polymorphism and longitudinal clinical data based on retrospective analysis of medical records, from first to last recorded visit at the clinic. By use of poly chain reaction and the Sanger method we genotyped the -75 T>G gene polymorphism and examined the association to clinical response, which was based on retrospective analysis of longitudinal clinical data from medical records. The primary clinical outcome measure was weight loss during the first 3 months of MPH treatment. Data from 74 MPH treated children with ADHD, mean age 8.6 years, 57% males, were analysed. There were n=26 G-carriers (heterozygote TG and homozygote GG) and n=48 TT-homozygotes. The proportion of weight loss and mean weight change differed significantly in G-carriers (88% / -0.279 kg) compared with TT-homozygotes (31% / +0.157 kg). This study shows an association between the -75 T>G polymorphism in CES1 and MPH treatment response, demonstrated by a significantly higher frequency and extent of weight loss in G-carriers compared to TT-homozygotes.

M3 - Journal article

VL - 2

JO - SM Journal of bioinformatics and Proteomics

JF - SM Journal of bioinformatics and Proteomics

IS - 1

M1 - 1010

ER -