BACKGROUND/AIMS: Adult-type hypolactasia (primary lactose malabsorption) affects most of world's human population and limits the use of fresh milk due to lactose intolerance. The diagnosis of adult-type hypolactasia has been difficult to establish because of unsatisfactory diagnostic methods. C/T(-13910) single nucleotide polymorphism residing 13910 base pairs from the 5' end of the lactase gene has been shown to be associated with lactase persistence. The aim of the study was to assess the applicability of the C/T(-13910) variant as a diagnostic test for adult-type hypolactasia during childhood. METHODS: Intestinal biopsies were obtained from 329 children and adolescents of African, Finnish, and other White origins aged 0.1-20 years undergoing upper gastrointestinal endoscopy because of abdominal complaints. The biopsies were assayed for lactase, sucrase, and maltase activity and genotyped for the C/T(-13910) variant using polymerase chain reaction minisequencing. RESULTS: The frequency of the C/C(-13910) genotype defining lactase non-persistence was well in agreement in this study with published figures for the prevalences of adult-type hypolactasia in Africans and Whites. The C/C(-13910) genotype was associated with very low lactase activity (<10 U/g protein) in the majority of children tested at 8 years of age and in every child older than 12 years of age giving a specificity of 100% and sensitivity of 93% for the genetic test. The decline of lactase activity was somewhat earlier in African compared with Finnish children with C/C(-13910) genotype (p<0.03). CONCLUSIONS: Genetic test of C/T(-13910) polymorphism can be used as a first stage screening test for adult-type hypolactasia.
BACKGROUND/AIMS: Adult-type hypolactasia (primary lactose malabsorption) affects most of world's human population and limits the use of fresh milk due to lactose intolerance. The diagnosis of adult-type hypolactasia has been difficult to establish because of unsatisfactory diagnostic methods. C/T(-13910) single nucleotide polymorphism residing 13910 base pairs from the 5' end of the lactase gene has been shown to be associated with lactase persistence. The aim of the study was to assess the applicability of the C/T(-13910) variant as a diagnostic test for adult-type hypolactasia during childhood. METHODS: Intestinal biopsies were obtained from 329 children and adolescents of African, Finnish, and other White origins aged 0.1-20 years undergoing upper gastrointestinal endoscopy because of abdominal complaints. The biopsies were assayed for lactase, sucrase, and maltase activity and genotyped for the C/T(-13910) variant using polymerase chain reaction minisequencing. RESULTS: The frequency of the C/C(-13910) genotype defining lactase non-persistence was well in agreement in this study with published figures for the prevalences of adult-type hypolactasia in Africans and Whites. The C/C(-13910) genotype was associated with very low lactase activity (<10 U/g protein) in the majority of children tested at 8 years of age and in every child older than 12 years of age giving a specificity of 100% and sensitivity of 93% for the genetic test. The decline of lactase activity was somewhat earlier in African compared with Finnish children with C/C(-13910) genotype (p<0.03). CONCLUSIONS: Genetic test of C/T(-13910) polymorphism can be used as a first stage screening test for adult-type hypolactasia.
Authors: Sari R Anthoni; Heli A Rasinperä; Antti J Kotamies; Hanna A Komu; Harri K Pihlajamäki; Kaija Leena Kolho; Irma E Järvelä Journal: World J Gastroenterol Date: 2007-02-28 Impact factor: 5.742
Authors: Nabil-Sabri Enattah; Mikko Kuokkanen; Carol Forsblom; Sirajedin Natah; Aino Oksanen; Irma Jarvela; Leena Peltonen; Erkki Savilahti Journal: World J Gastroenterol Date: 2007-07-07 Impact factor: 5.742
Authors: Catherine J E Ingram; Charlotte A Mulcare; Yuval Itan; Mark G Thomas; Dallas M Swallow Journal: Hum Genet Date: 2008-11-26 Impact factor: 4.132
Authors: Nicholas J Timpson; Paul Brennan; Valérie Gaborieau; Lee Moore; David Zaridze; Vsevolod Matveev; Neonilia Szeszenia-Dabrowska; Jolanta Lissowska; Dana Mates; Vladimir Bencko; Lenka Foretova; Vladimir Janout; Wong-Ho Chow; Nathaniel Rothman; Paolo Boffetta; Roger M Harbord; George Davey Smith Journal: Cancer Epidemiol Biomarkers Prev Date: 2010-05 Impact factor: 4.254
Authors: Nana Yaa Baffour-Awuah; Sarah Fleet; Robert K Montgomery; Susan S Baker; Johannah L Butler; Catarina Campbell; Samuel Tischfield; Paul D Mitchell; Sophie Allende-Richter; Jennifer E Moon; Laurie Fishman; Athos Bousvaros; Victor Fox; Mikko Kuokkanen; Richard J Grand; Joel N Hirschhorn Journal: J Pediatr Gastroenterol Nutr Date: 2015-02 Impact factor: 2.839
Authors: Yuval Itan; Bryony L Jones; Catherine J E Ingram; Dallas M Swallow; Mark G Thomas Journal: BMC Evol Biol Date: 2010-02-09 Impact factor: 3.260
Authors: Ricardo Almon; Emma Patterson; Torbjörn K Nilsson; Peter Engfeldt; Michael Sjöström Journal: Food Nutr Res Date: 2010-06-16 Impact factor: 3.894
Authors: Suvi Torniainen; Roberta Freddara; Taina Routi; Carolien Gijsbers; Carlo Catassi; Pia Höglund; Erkki Savilahti; Irma Järvelä Journal: BMC Gastroenterol Date: 2009-01-22 Impact factor: 3.067