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Polymorphisms rs7041 (c.1296T>G) and rs4588 (c.1307C>A) and Distribution of Gc Variants in a Population of Hemodialysis Patients in Abidjan

Received: 28 October 2024     Accepted: 9 November 2024     Published: 28 November 2024
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Abstract

Background: Vitamin D deficiency is associated with chronic kidney disease (CKD). Renal failure patients are routinely supplemented with vitamin D to compensate for this deficiency. The response to vitamin D supplementation can vary according to variants in the Gc (Vitamin D-binding protein) gene. The combination of two single-nucleotide polymorphisms (SNPs), rs7041 (c.1296T>G) and rs4588 (c.1307C>A), in the Gc gene forms three variants, namely Gc1f (c.1296 T, c.1307C), Gc1s (c.1296G, c.1307C), Gc2 (c.1296T, c.1307A), which result in six vitamin D-binding protein (DBP) phenotypes. Significant variations in variant frequency are reported in different populations. Objectif: The aim of our study was to determine the distribution of Gc genotypes and variants in a population of haemodialysis patients. Methods and Results: Genomic DNA from forty-eight blacks Africans adults with CKD were extracted from whole blood samples. The DNA region spanning the two SNPs of interest was amplified by PCR. The amplified DNA was subjected to the action of restriction enzymes, StyI and HaeIII in two different reactions. Genotyping was performed by analysis of the length of restriction fragments by 2.5% agarose gel electrophoresis. The mean age of the study population was 42±12 years, with a sex ratio of 1.6. The C/C genotype of rs4588 (c.1307C>A) was the most frequent, followed by the T/T genotype (90.6%) of rs7041 (c.1296T>G). Three DBP phenotypes, Gc1f-1f (c.1296T, c.1307C/p.432Asp, p.436Thr): 89.6 %, Gc1s-1s (c.1296 G, c.1307C/p.432Glu, p.436Thr): 8.3 %, and Gc1f/Gc1s: 2,1% were identified. Conclusion: Finally, the Gc1f variant was the most frequent. Our results suggest the need for vitamin D testing to establish the correlation between the observed Gc genotypes/variants and vitamin D status in the study population.

Published in International Journal of Genetics and Genomics (Volume 12, Issue 4)
DOI 10.11648/j.ijgg.20241204.15
Page(s) 103-109
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Chronic Kidney Disease, rs7041(c.1296T>G), rs4588 (c.1307C>A), VDBP

References
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[16] Braithwaite VS, Jones KS, Schoenmakers I, Silver M, Prentice A, Hennig BJ. Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children. Bone 2015; 74: 166–70.
[17] Constans J, Lefevre‐Witier Ph, Richard P, Jaeger G. Gc (vitamin D binding protein) subtype polymorphism and variants distribution among Saharan, Middle East, and African populations. Am J Phys Anthropol 1980; 52: 435–41.
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Cite This Article
  • APA Style

    Koné-Dakouri, Y. B., Yao-Yapo, C. M., Yayo, E. S., Kouacou, K. M., Koné-Koné, F., et al. (2024). Polymorphisms rs7041 (c.1296T>G) and rs4588 (c.1307C>A) and Distribution of Gc Variants in a Population of Hemodialysis Patients in Abidjan. International Journal of Genetics and Genomics, 12(4), 103-109. https://doi.org/10.11648/j.ijgg.20241204.15

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    ACS Style

    Koné-Dakouri, Y. B.; Yao-Yapo, C. M.; Yayo, E. S.; Kouacou, K. M.; Koné-Koné, F., et al. Polymorphisms rs7041 (c.1296T>G) and rs4588 (c.1307C>A) and Distribution of Gc Variants in a Population of Hemodialysis Patients in Abidjan. Int. J. Genet. Genomics 2024, 12(4), 103-109. doi: 10.11648/j.ijgg.20241204.15

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    AMA Style

    Koné-Dakouri YB, Yao-Yapo CM, Yayo ES, Kouacou KM, Koné-Koné F, et al. Polymorphisms rs7041 (c.1296T>G) and rs4588 (c.1307C>A) and Distribution of Gc Variants in a Population of Hemodialysis Patients in Abidjan. Int J Genet Genomics. 2024;12(4):103-109. doi: 10.11648/j.ijgg.20241204.15

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  • @article{10.11648/j.ijgg.20241204.15,
      author = {Yékayo Bénédicte Koné-Dakouri and Carine Mireille Yao-Yapo and Eric Sagou Yayo and Kadio Morel Kouacou and Fatoumata Koné-Koné and Angèle Edjème-Aké and Adèle Kacou-N'Douba and Marie Laure Hauhouot-Attoungbré and Dagui Monnet},
      title = {Polymorphisms rs7041 (c.1296T>G) and rs4588 (c.1307C>A) and Distribution of Gc Variants in a Population of Hemodialysis Patients in Abidjan
    },
      journal = {International Journal of Genetics and Genomics},
      volume = {12},
      number = {4},
      pages = {103-109},
      doi = {10.11648/j.ijgg.20241204.15},
      url = {https://doi.org/10.11648/j.ijgg.20241204.15},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20241204.15},
      abstract = {Background: Vitamin D deficiency is associated with chronic kidney disease (CKD). Renal failure patients are routinely supplemented with vitamin D to compensate for this deficiency. The response to vitamin D supplementation can vary according to variants in the Gc (Vitamin D-binding protein) gene. The combination of two single-nucleotide polymorphisms (SNPs), rs7041 (c.1296T>G) and rs4588 (c.1307C>A), in the Gc gene forms three variants, namely Gc1f (c.1296 T, c.1307C), Gc1s (c.1296G, c.1307C), Gc2 (c.1296T, c.1307A), which result in six vitamin D-binding protein (DBP) phenotypes. Significant variations in variant frequency are reported in different populations. Objectif: The aim of our study was to determine the distribution of Gc genotypes and variants in a population of haemodialysis patients. Methods and Results: Genomic DNA from forty-eight blacks Africans adults with CKD were extracted from whole blood samples. The DNA region spanning the two SNPs of interest was amplified by PCR. The amplified DNA was subjected to the action of restriction enzymes, StyI and HaeIII in two different reactions. Genotyping was performed by analysis of the length of restriction fragments by 2.5% agarose gel electrophoresis. The mean age of the study population was 42±12 years, with a sex ratio of 1.6. The C/C genotype of rs4588 (c.1307C>A) was the most frequent, followed by the T/T genotype (90.6%) of rs7041 (c.1296T>G). Three DBP phenotypes, Gc1f-1f (c.1296T, c.1307C/p.432Asp, p.436Thr): 89.6 %, Gc1s-1s (c.1296 G, c.1307C/p.432Glu, p.436Thr): 8.3 %, and Gc1f/Gc1s: 2,1% were identified. Conclusion: Finally, the Gc1f variant was the most frequent. Our results suggest the need for vitamin D testing to establish the correlation between the observed Gc genotypes/variants and vitamin D status in the study population.
    },
     year = {2024}
    }
    

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  • TY  - JOUR
    T1  - Polymorphisms rs7041 (c.1296T>G) and rs4588 (c.1307C>A) and Distribution of Gc Variants in a Population of Hemodialysis Patients in Abidjan
    
    AU  - Yékayo Bénédicte Koné-Dakouri
    AU  - Carine Mireille Yao-Yapo
    AU  - Eric Sagou Yayo
    AU  - Kadio Morel Kouacou
    AU  - Fatoumata Koné-Koné
    AU  - Angèle Edjème-Aké
    AU  - Adèle Kacou-N'Douba
    AU  - Marie Laure Hauhouot-Attoungbré
    AU  - Dagui Monnet
    Y1  - 2024/11/28
    PY  - 2024
    N1  - https://doi.org/10.11648/j.ijgg.20241204.15
    DO  - 10.11648/j.ijgg.20241204.15
    T2  - International Journal of Genetics and Genomics
    JF  - International Journal of Genetics and Genomics
    JO  - International Journal of Genetics and Genomics
    SP  - 103
    EP  - 109
    PB  - Science Publishing Group
    SN  - 2376-7359
    UR  - https://doi.org/10.11648/j.ijgg.20241204.15
    AB  - Background: Vitamin D deficiency is associated with chronic kidney disease (CKD). Renal failure patients are routinely supplemented with vitamin D to compensate for this deficiency. The response to vitamin D supplementation can vary according to variants in the Gc (Vitamin D-binding protein) gene. The combination of two single-nucleotide polymorphisms (SNPs), rs7041 (c.1296T>G) and rs4588 (c.1307C>A), in the Gc gene forms three variants, namely Gc1f (c.1296 T, c.1307C), Gc1s (c.1296G, c.1307C), Gc2 (c.1296T, c.1307A), which result in six vitamin D-binding protein (DBP) phenotypes. Significant variations in variant frequency are reported in different populations. Objectif: The aim of our study was to determine the distribution of Gc genotypes and variants in a population of haemodialysis patients. Methods and Results: Genomic DNA from forty-eight blacks Africans adults with CKD were extracted from whole blood samples. The DNA region spanning the two SNPs of interest was amplified by PCR. The amplified DNA was subjected to the action of restriction enzymes, StyI and HaeIII in two different reactions. Genotyping was performed by analysis of the length of restriction fragments by 2.5% agarose gel electrophoresis. The mean age of the study population was 42±12 years, with a sex ratio of 1.6. The C/C genotype of rs4588 (c.1307C>A) was the most frequent, followed by the T/T genotype (90.6%) of rs7041 (c.1296T>G). Three DBP phenotypes, Gc1f-1f (c.1296T, c.1307C/p.432Asp, p.436Thr): 89.6 %, Gc1s-1s (c.1296 G, c.1307C/p.432Glu, p.436Thr): 8.3 %, and Gc1f/Gc1s: 2,1% were identified. Conclusion: Finally, the Gc1f variant was the most frequent. Our results suggest the need for vitamin D testing to establish the correlation between the observed Gc genotypes/variants and vitamin D status in the study population.
    
    VL  - 12
    IS  - 4
    ER  - 

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Author Information
  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast;Molecular Biology Unit of the Medical Biology Department, University Hospital Center of Angré, Abidjan, Ivory Coast

  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast

  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast

  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast

  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast

  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast

  • Molecular Biology Unit of the Medical Biology Department, University Hospital Center of Angré, Abidjan, Ivory Coast

  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast

  • Pedagogical Unit of Biochemistry and Molecular Biology, UFR of Pharmaceutical and Biological Sciences, Félix Houphouët Boigny University, Abidjan, Ivory Coast

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