Population analysis of vitamin D receptor polymorphisms and the role of genetic ancestry in an admixed population

Lins, Tulio Cesar de Lima; Vieira, Rodrigo G.; Grattapaglia, Dário; Pereira, Rinaldo Wellerson

doi:10.1590/s1415-47572011000300003

Cited by 19 publications

(13 citation statements)

References 46 publications

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“…In different populations, haplotype structure analysis of VDR gene has shown high genetic heterogeneity involving different haplotype blocks [ 37 , 38 ]. In fact, studies carried out in admixed populations has revealed the importance of genetic heterogeneity since linkage disequilibrium increases or breaks down differently in different populations [ 39 , 40 ].…”

Section: Discussionmentioning

confidence: 99%

Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations

et al. 2015

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BackgroundThe global burden of chronic liver disease is rising. Besides environmental, behavioral, viral and metabolic factors, genetic polymorphisms in patatin-like phospholipase-3 (PNPLA3) and vitamin D receptor (VDR) genes have been related to the development of chronic liver disease and progression towards liver cancer. Although their prevalence differs remarkably among ethnic groups, the frequency of these polymorphisms in South American populations -whose genetic background is highly admixed- has been poorly studied. Hence, the aim of this study was to characterize polymorphisms related to chronic liver disease and their association with the genetic ancestry of South American populations.ResultsDNA samples from 258 healthy unrelated male volunteers were analyzed. The frequencies of G and C alleles of rs738409 polymorphism (PNPLA3 gene) were 74 % and 26 %, respectively; whereas the bAt (CCA) haplotype (VDR gene) was observed in 32.5 % of the samples. The GG genotype of PNPLA3 rs738409 and the bAt (CCA) haplotype -associated with an increased risk of chronic liver disease and progression towards liver cancer- were significantly more frequent among samples exhibiting maternal and paternal Native American haplogroups (63.7 % and 64.6 %), intermediate among admixed samples (45.1 % and 44.9 %; p = 0.03) and the lowest for Non-native American ancestry (30.1 % and 29.6 %; p = 0.001 and p = 0.0008).ConclusionsThese results suggest that individuals with Native American ancestry might have a high risk of chronic liver disorders and cancer. Furthermore, these data not only support the molecular evaluation of ancestry in multi-ethnic population studies, but also suggest that the characterization of these variants in South American populations may be useful for establishing public health policies aimed at high risk ethnic communities.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-015-0255-3) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations

et al. 2015

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“…The Taq I t‐allele frequency ranges between 1.2 and 43.8%, the Bsm I b‐allele frequency ranges between 2.3 and 50%, and the Apa I a‐allele frequency ranges between 26.7 and 48.3% in different ethnic populations (dbSNP database in NCBI). Another factor is the different LD patterns reported in different populations . The present study allowed the comparison of patterns of association of CP and AgP, as both were investigated in Jordanian subjects.…”

Section: Discussionmentioning

confidence: 99%

Association of vitamin D receptor gene polymorphisms with chronic and aggressive periodontitis in Jordanian patients

Karasneh

Ababneh

Taha

et al. 2013

European J Oral Sciences

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Vitamin D acts through binding with vitamin D receptor (VDR) and is responsible for regulating bone metabolism and mineralization; it also suppresses the immune system. The aim of this study was to investigate if VDR gene polymorphisms are associated with chronic periodontitis (CP) and aggressive periodontitis (AgP) in a Jordanian population. A total of 99 patients with CP, 63 patients with AgP, and 126 controls were genotyped using PCR-restriction fragment length polymorphism (RFLP) for BsmI, ApaI, and TaqI single nucleotide polymorphisms (SNPs). The association was determined after correcting for confounding factors using multivariate logistic regression analysis. Estimation of haplotype frequencies was carried out using the EH program, and haplotypes were constructed using the phase 2.1 program. After correcting for confounding factors, multivariate logistic regression analysis revealed that inheritance of the BsmI bb genotype or the ApaI aa genotype was associated with increased risk of developing CP (OR = 2.4 and OR = 3.4, respectively) but with reduced risk of developing AgP (OR = 0.4 and OR = 0.3, respectively). This was further supported by association of the ba haplotype with CP but not with AgP. This study supports an association of VDR gene polymorphisms with CP and AgP in a Jordanian population; however, the pattern of association was different between the two diseases.

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“…Table 3 shows the allelic and haplotypic frequencies of VDR polymorphisms in infected and noninfected H. pylori patients in relation to data from the literature for the Brazilian population 14 and HapMap population. 15 Comparative analysis revealed differences in the allelic distribution of FokI polymorphism estimated according to relative populations from Europe and Africa.…”

Section: Resultsmentioning

confidence: 99%

“…In this regard, this study aimed to investigate the link between VDR gene polymorphism in H. pylori -infected patients with gastric symptomatology. The study was used as a basis for comparing the distribution of genic frequencies of VDR gene polymorphisms described in a Brazilian population 14 with that identified in the ethnic groups of the International HapMap Project. 15 …”

Section: Introductionmentioning

confidence: 99%

Relationship of vitamin D receptor gene polymorphisms in <em>Helicobacter pylori</em> gastric patients

Martins¹,

Matos²,

Loiola³

et al. 2018

CEG

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PurposeThe present study aimed to investigate the association between the human VDR gene and Helicobacter pylori infection.Patients and methodsA cross-sectional study was conducted on 208 adult patients with upper gastrointestinal symptoms. Gastric biopsy specimens were obtained from each patient for molecular DNA and histological examination. Patients were genotyped for VDR gene polymorphisms using polymerase chain reaction and restriction fragment length polymorphism analysis.ResultsThe allelic and genotypic distribution analyses of the FokI, ApaI and TaqI polymorphisms of the VDR gene did not show distribution differences between H. pylori-positive and -negative groups. The genotype distribution observed for polymorphism BsmI deviated significantly from what was expected in a Hardy–Weinberg equilibrium test in the H. pylori-positive group (χ2=29.048, p<0.001). The distribution of BsmI genotypes differed significantly between the H. pylori-negative and H. pylori-positive groups (p=0.0034), where the frequency of the bb genotype increased among H. pylori-positive individuals compared with those without infection (63.25% versus 50.55%, respectively). Conversely, the H. pylori-negative group showed a Bb frequency that was 20.27% higher than in the infected group.ConclusionWe identified a possible association between the BsmI polymorphism and infection by H. pylori. However, further research is required to clarify this relationship.

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Population analysis of vitamin D receptor polymorphisms and the role of genetic ancestry in an admixed population

Cited by 19 publications

References 46 publications

Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations

Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations

Association of vitamin D receptor gene polymorphisms with chronic and aggressive periodontitis in Jordanian patients

Relationship of vitamin D receptor gene polymorphisms in <em>Helicobacter pylori</em> gastric patients

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