Cargando…

Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana

BACKGROUND: Lactase non-persistence is a condition where lactase activity is decreased in the intestinal wall after weaning. In European derived populations a single nucleotide polymorphism (SNP) C/T(-13910 )residing 13.9 kb upstream from the lactase gene has been shown to define lactase activity, a...

Descripción completa

Detalles Bibliográficos
Autores principales: Torniainen, Suvi, Parker, M Iqbal, Holmberg, Ville, Lahtela, Elisa, Dandara, Collet, Jarvela, Irma
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713916/
https://www.ncbi.nlm.nih.gov/pubmed/19575818
http://dx.doi.org/10.1186/1471-2156-10-31
_version_ 1782169617839423488
author Torniainen, Suvi
Parker, M Iqbal
Holmberg, Ville
Lahtela, Elisa
Dandara, Collet
Jarvela, Irma
author_facet Torniainen, Suvi
Parker, M Iqbal
Holmberg, Ville
Lahtela, Elisa
Dandara, Collet
Jarvela, Irma
author_sort Torniainen, Suvi
collection PubMed
description BACKGROUND: Lactase non-persistence is a condition where lactase activity is decreased in the intestinal wall after weaning. In European derived populations a single nucleotide polymorphism (SNP) C/T(-13910 )residing 13.9 kb upstream from the lactase gene has been shown to define lactase activity, and several other single nucleotide polymorphisms (G/C(-14010 )T/G(-13915), C/G(-13907 )and T/C(-13913)) in the same region have been identified in African and Middle East populations. RESULTS: The T(-13910 )allele most common in European populations was present in 21.8% mixed ancestry (N = 62) individuals and it was absent in the Xhosa (N = 109) and Ghana (N = 196) subjects. Five other substitutions were also found in the region covering the previously reported variants in African and Middle East populations. These included the G/C(-14010 )variant common in Kenyan and Tanzanian populations, which was present in 12.8% of Xhosa population and in 8.1% of mixed ancestry subjects. Two novel substitutions (C/T(-14091 )and A/C(-14176)) and one previously reported substitution G/A(-13937 )(rs4988234) were less common and present only in the Xhosa population. One novel substitution G/A(-14107 )was present in the Xhosa and Ghanaian populations. None of the other previously reported variants were identified. CONCLUSION: Identification of the G/C(-14010 )variant in the Xhosa population, further confirms their genetic relatedness to other nomadic populations members that belong to the Bantu linguistic group in Tanzania and Kenya. Further studies are needed to confirm the possible relationship of the novel substitutions to the lactase persistence trait.
format Text
id pubmed-2713916
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-27139162009-07-23 Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana Torniainen, Suvi Parker, M Iqbal Holmberg, Ville Lahtela, Elisa Dandara, Collet Jarvela, Irma BMC Genet Research Article BACKGROUND: Lactase non-persistence is a condition where lactase activity is decreased in the intestinal wall after weaning. In European derived populations a single nucleotide polymorphism (SNP) C/T(-13910 )residing 13.9 kb upstream from the lactase gene has been shown to define lactase activity, and several other single nucleotide polymorphisms (G/C(-14010 )T/G(-13915), C/G(-13907 )and T/C(-13913)) in the same region have been identified in African and Middle East populations. RESULTS: The T(-13910 )allele most common in European populations was present in 21.8% mixed ancestry (N = 62) individuals and it was absent in the Xhosa (N = 109) and Ghana (N = 196) subjects. Five other substitutions were also found in the region covering the previously reported variants in African and Middle East populations. These included the G/C(-14010 )variant common in Kenyan and Tanzanian populations, which was present in 12.8% of Xhosa population and in 8.1% of mixed ancestry subjects. Two novel substitutions (C/T(-14091 )and A/C(-14176)) and one previously reported substitution G/A(-13937 )(rs4988234) were less common and present only in the Xhosa population. One novel substitution G/A(-14107 )was present in the Xhosa and Ghanaian populations. None of the other previously reported variants were identified. CONCLUSION: Identification of the G/C(-14010 )variant in the Xhosa population, further confirms their genetic relatedness to other nomadic populations members that belong to the Bantu linguistic group in Tanzania and Kenya. Further studies are needed to confirm the possible relationship of the novel substitutions to the lactase persistence trait. BioMed Central 2009-07-05 /pmc/articles/PMC2713916/ /pubmed/19575818 http://dx.doi.org/10.1186/1471-2156-10-31 Text en Copyright © 2009 Torniainen et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Torniainen, Suvi
Parker, M Iqbal
Holmberg, Ville
Lahtela, Elisa
Dandara, Collet
Jarvela, Irma
Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana
title Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana
title_full Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana
title_fullStr Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana
title_full_unstemmed Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana
title_short Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana
title_sort screening of variants for lactase persistence/non-persistence in populations from south africa and ghana
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713916/
https://www.ncbi.nlm.nih.gov/pubmed/19575818
http://dx.doi.org/10.1186/1471-2156-10-31
work_keys_str_mv AT torniainensuvi screeningofvariantsforlactasepersistencenonpersistenceinpopulationsfromsouthafricaandghana
AT parkermiqbal screeningofvariantsforlactasepersistencenonpersistenceinpopulationsfromsouthafricaandghana
AT holmbergville screeningofvariantsforlactasepersistencenonpersistenceinpopulationsfromsouthafricaandghana
AT lahtelaelisa screeningofvariantsforlactasepersistencenonpersistenceinpopulationsfromsouthafricaandghana
AT dandaracollet screeningofvariantsforlactasepersistencenonpersistenceinpopulationsfromsouthafricaandghana
AT jarvelairma screeningofvariantsforlactasepersistencenonpersistenceinpopulationsfromsouthafricaandghana