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Significantly fewer protein functional changing variants for lipid metabolism in Africans than in Europeans.

ABSTRACT: The disorders in metabolism of energy substances are usually related to some diseases, such as obesity, diabetes and cancer, etc. However, the genetic background for these disorders has not been well understood. In this study, we explored the genetic risk differences among human populations in metabolism (catabolism and biosynthesis) of energy substances, including lipids, carbohydrates and amino acids.Two genotype datasets (Hapmap and 1000 Genome) were used for this study. The genetic risks of protein functional changing variants (PFCVs) on genes involved in lipid, carbohydrate and amino acid metabolism were calculated using two genetic risk indices: the total number of PFCVs (Num) and the total possibly harmful score of PFCVs (R). Observations in these two genotype datasets consistently showed that Africans had lower genetic risk in lipid metabolism (both catabolic and biosynthetic processes) compared to Europeans. However this relationship was not observed in carbohydrate and amino acid metabolism.Our results suggested that Africans had higher efficiency of utilizing lipids as energy substances than Europeans. In other words, lipids might be more preferred as energy substances in Africans than in Europeans.

SUBMITTER: Xue C

PROVIDER: S-EPMC3610238 | biostudies-other | 2013 Mar

REPOSITORIES: biostudies-other

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Significantly fewer protein functional changing variants for lipid metabolism in Africans than in Europeans.

Xue Cheng C Liu Xiaoming X Gong Yun Y Zhao Yuhai Y Fu Yun-Xin YX

Journal of translational medicine 20130320

<h4>Background</h4>The disorders in metabolism of energy substances are usually related to some diseases, such as obesity, diabetes and cancer, etc. However, the genetic background for these disorders has not been well understood. In this study, we explored the genetic risk differences among human populations in metabolism (catabolism and biosynthesis) of energy substances, including lipids, carbohydrates and amino acids.<h4>Results</h4>Two genotype datasets (Hapmap and 1000 Genome) were used fo ...[more]

PMID: 23514131

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Project description:Background and objectivesAmyotrophic lateral sclerosis (ALS) is a degenerative condition of the brain and spinal cord in which protein-coding variants in known ALS disease genes explain a minority of sporadic cases. There is a growing interest in the role of noncoding structural variants (SVs) as ALS risk variants or genetic modifiers of ALS phenotype. In small European samples, specific short SV alleles in noncoding regulatory regions of SCAF4, SQSTM1, and STMN2 have been reported to be associated with ALS, and several groups have investigated the possible role of SMN1/SMN2 gene copy numbers in ALS susceptibility and clinical severity.MethodsUsing short-read whole genome sequencing (WGS) data, we investigated putative ALS-susceptibility SCAF4 (3'UTR poly-T repeat), SQSTM1 (intron 5 AAAC insertion), and STMN2 (intron 3 CA repeat) alleles in African ancestry patients with ALS and described the architecture of the SMN1/SMN2 gene region. South African cases with ALS (n = 114) were compared with ancestry-matched controls (n = 150), 1000 Genomes Project samples (n = 2,336), and H3Africa Genotyping Chip Project samples (n = 347).ResultsThere was no association with previously reported SCAF4 poly-T repeat, SQSTM1 AAAC insertion, and long STMN2 CA alleles with ALS risk in South Africans (p > 0.2). Similarly, SMN1 and SMN2 gene copy numbers did not differ between South Africans with ALS and matched population controls (p > 0.9). Notably, 20% of the African samples in this study had no SMN2 gene copies, which is a higher frequency than that reported in Europeans (approximately 7%).DiscussionWe did not replicate the reported association of SCAF4, SQSTM1, and STMN2 short SVs with ALS in a small South African sample. In addition, we found no link between SMN1 and SMN2 copy numbers and susceptibility to ALS in this South African sample, which is similar to the conclusion of a recent meta-analysis of European studies. However, the SMN gene region findings in Africans replicate previous results from East and West Africa and highlight the importance of including diverse population groups in disease gene discovery efforts. The clinically relevant differences in the SMN gene architecture between African and non-African populations may affect the effectiveness of targeted SMN2 gene therapy for related diseases such as spinal muscular atrophy.

Dataset Information

Significantly fewer protein functional changing variants for lipid metabolism in Africans than in Europeans.

Publications

Significantly fewer protein functional changing variants for lipid metabolism in Africans than in Europeans.

Similar Datasets

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