Screening of Variants for Lactase Persistence/non-persistence in Populations from South Africa and Ghana

Overview

Journal BMC Genet

Publisher Biomed Central

Specialties Biotechnology
Molecular Biology

Date 2009 Jul 7

PMID 19575818

Citations 17

Authors

Suvi Torniainen

M Iqbal Parker

Ville Holmberg

Elisa Lahtela

Collet Dandara

Irma Jarvela

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.

Anguita-Ruiz A, Aguilera C, Gil A Nutrients. 2020; 12(9).

PMID: 32899182 PMC: 7551416. DOI: 10.3390/nu12092689.

The lactase -13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults.

Manco L, Dias H, Muc M, Padez C Eur J Clin Nutr. 2016; 71(1):21-24.

PMID: 27577176 DOI: 10.1038/ejcn.2016.164.

High osteoporosis risk among East Africans linked to lactase persistence genotype.

Hilliard C Bonekey Rep. 2016; 5:803.

PMID: 27408710 PMC: 4926535. DOI: 10.1038/bonekey.2016.30.

The Diverse Forms of Lactose Intolerance and the Putative Linkage to Several Cancers.

Amiri M, Diekmann L, von Kockritz-Blickwede M, Naim H Nutrients. 2015; 7(9):7209-30.

PMID: 26343715 PMC: 4586527. DOI: 10.3390/nu7095332.

Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry.

Baffour-Awuah N, Fleet S, Montgomery R, Baker S, Butler J, Campbell C J Pediatr Gastroenterol Nutr. 2015; 60(2):182-91.

PMID: 25625576 PMC: 4308731. DOI: 10.1097/MPG.0000000000000595.

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