Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian population

Atadzhanov, Masharip; Mwaba, Mwila Hilton; Mukomena, Patrice; Lakhi, Shabir; Mwaba, Peter; Rayaprolu, Sruti; Meschia, James F.; Ross, Owen A.

doi:10.1186/1756-0500-7-194

Cited by 20 publications

(13 citation statements)

References 69 publications

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“…This indeed represents the lowest T allele frequency of MTHFR C677T SNP found so far in any population when compared with data reported in the 1000 Genomes Project Phase 3 ( http://www.internationalgenome.org/home ) (Fig. 1 ) as well as with the MTHFR genotype data obtained with other African populations [ 24 ].…”

Section: Resultssupporting

confidence: 75%

Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V

Abdi

Osman

2017

J Thromb Thrombolysis

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Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT). As expected, we found no existence of factor V Leiden (rs6025) and prothrombin G20210A (rs1799963) in the Somali population. The G allele of ABO [261G/delG] polymorphism (rs8176719) was found at a frequency of 29%, similar to that observed in other African populations. We found the lowest so far reported frequency of MTHFR C677T (rs1801133) polymorphism in the Somali population (T allele frequency 1.5%). A novel and deleterious single nucleotide variation in exon 11 of coagulation factor V (c.1631A>G) causing Gln544Arg exchange in factor V was identified in a 29 years old Somali female with DVT. The same patient was heterozygous to VKORC1 Asp36Tyr polymorphism (rs61742245) that predisposes to warfarin resistance. In conclusion, this study shows that common hereditary factors for thromboembolism found in Caucasians are either less frequent or absent in the Somali population—similar to the situation in other Africans. NGS is possibly a better choice to detect genetic risk variants for thrombosis in this ethnic group.

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Section: Resultssupporting

confidence: 75%

Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V

Abdi

Osman

2017

J Thromb Thrombolysis

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“…Some studies revealed that homozygous state of MTHFR C677T polymorphism is variable in populations with certain ethnic backgrounds from Asia, Africa, Europe, and America. [10,11,19,22] Homozygous 677TT were rare or completely absent in African and the frequency of the homozygous wild-type 677CC genotype is more prevalent in Asian and European Caucasian. [7,9,17,24,25] The MTHFR 677TT genotype affects an estimated 10% of individuals worldwide (range from 0%–30%).…”

Section: Discussionmentioning

confidence: 99%

Analysis of genetic polymorphism of methylenetetrahydrofolate reductase in a large ethnic Hakka population in southern China

Zhao

Hou

et al. 2018

Medicine

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Methylenetetrahydrofolate reductase (MTHFR) catalyzes conversion of methylene tetrahydrofolate to methylte trahydrofolate. MTHFR C677T polymorphism has been regarded as a risk factor for various vascular diseases. Our study aimed to investigate the distribution frequencies of this polymorphism among Hakka population living in southern China. We retrospectively recruited 5102 unrelated Chinese Hakka subjects. MTHFR C677T polymorphism was tested using the polymerase chain reaction (PCR) and DNA sequencing. A total of 2358 males and 2744 females (aged from 10 years to 101 years) were included in this study. In total, 2835 (55.63%) subjects were homozygous for the C allele (CC), 1939 (38.00%) subjects were heterozygous (CT), and 325 (6.37%) subjects were homozygous for the T allele (TT). The allelic frequency of mutant T was 25.37% with 325 individual homozygous for this defective allele resulting in a frequency of about 6.37% for the TT genotype. According to the study results, the overall frequency of MTHFR C677T genotypes did not differ significantly among the gender and age groups. Our study showed the prevalence of MTHFR C677T polymorphism in a large ethnic Hakka population living in southern China. It would be important implications for the primary prevention of various vascular diseases.

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“…In the current study, however, the association between ApoE polymorphisms and the age of the patients was not analyzed. In another study, the allele frequencies of the ApoE polymorphism in Zambian populations were 13.8, 59.5 and 26.7% for the E2, E3 and E4 alleles, respectively ( 14 ). Genotype frequencies of E3/3 were 32.8% in Zambian populations.…”

Section: Discussionmentioning

confidence: 98%

Correlation between ApoE gene polymorphisms and the occurrence of urolithiasis

Qian

Zheng

Wang

et al. 2014

Experimental and Therapeutic Medicine

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The aim of the present study was to investigate the correlation between apolipoprotein E (ApoE) gene polymorphisms and the occurrence of urolithiasis and dyslipidemia. A total of 180 Uyghur individuals, including 90 urolithiasis patients and 90 healthy controls, were enrolled in this study. The blood lipid profiles of the patients and controls were investigated and compared, and the composition of the urinary calculi was determined. The polymorphisms of the ApoE alleles were analyzed using polymerase chain reaction-restriction fragment length polymorphism analysis. Three common genotypes of the ApoE gene, E3/3, E3/4 and E4/4, were detected in the urolithiasis patients and control group. In the patient group, 28 patients with the E3/3 genotype (30.1%), 58 patients with the E3/4 genotype (64.4%) and four patients with the E4/4 genotype (4.5%) were identified. By contrast, in the control group, 52 patients with the E3/3 genotype (57.8%), 35 patients with the E3/4 genotype (38.9%) and three patients with the E4/4 genotype (3.3%) were identified. The frequency of the E3/4 genotype was found to be significantly higher in the patient group when compared with the control group (χ2=12.96; P<0.001). In addition, the frequency of the E4 allele was significantly higher in the patient group when compared with the control group (χ2= 6.61; P=0.025). In conclusion, the occurrence of urolithiasis was found to be associated with ApoE gene polymorphisms, and the E4 allele may be a potential susceptibility factor for urolithiasis.

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Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian population

Cited by 20 publications

References 69 publications

Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V

Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V

Analysis of genetic polymorphism of methylenetetrahydrofolate reductase in a large ethnic Hakka population in southern China

Correlation between ApoE gene polymorphisms and the occurrence of urolithiasis

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