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 |
Chronic Kidney Disease, rs7041(c.1296T>G), rs4588 (c.1307C>A), VDBP
[1] | Levey AS, De Jong PE, Coresh J, Nahas M El, Astor BC, Matsushita K, et al. The definition, classification, and prognosis of chronic kidney disease: a KDIGO Controversies Conference report. Kidney Int 2011; 80: 17–28. |
[2] | Levin A, SPE, BRW, CJ, DFALM, DJPE, GKE, HBR, IK, LEJ, LAS, RMC, SMG, WH, WCT, & WCG. Kidney disease: Improving global outcomes (KDIGO) CKD work group. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int Suppl (2011) 2013; 3: 1–150. |
[3] | Luo S, Grams ME. Epidemiology research to foster improvement in chronic kidney disease care. Kidney Int 2020; 97: 477–86. |
[4] | Yao HK, Konan SD, Sanogo S, Diopoh SP, Diallo AD. Prevalence and risk factors of chronic kidney disease in Cote D’Ivoire: An analytic study conducted in the department of internal medicine. Saudi J Kidney Dis Transpl 2018; 29: 153–9. |
[5] | Ketteler M, Block GA, Evenepoel P, Fukagawa M, Herzog CA, McCann L, et al. Executive summary of the 2017 KDIGO Chronic Kidney Disease–Mineral and Bone Disorder (CKD-MBD) Guideline Update: what’s changed and why it matters. Kidney Int 2017; 92: 26–36. |
[6] | Ernandez T, Stoermann-Chopard C. [b]Vitamine D[/b] et insuffisance rénale chronique: regain d’intérêt pour une vitamine oubliée. Rev Med Suisse 2012; 8: 2140–5. |
[7] | Negrea L. Active Vitamin D in Chronic Kidney Disease: Getting Right Back Where We Started from? Kidney Dis (Basel) 2019; 5: 59–68. |
[8] | Shab-Bidar S, Bours S, Geusens PPMM, Kessels AGH, van den Bergh JPW. Serum 25(OH)D response to vitamin D3 supplementation: a meta-regression analysis. Nutrition 2014; 30: 975–85. |
[9] | Yao P, Lu L, Hu Y, Liu G, Chen X, Sun L, et al. A dose-response study of vitamin D3 supplementation in healthy Chinese: a 5-arm randomized, placebo-controlled trial. Eur J Nutr 2016; 55: 383–92. |
[10] | Al-Daghri NM, Mohammed AK, Bukhari I, Rikli M, Abdi S, Ansari MGA, et al. Efficacy of vitamin D supplementation according to vitamin D-binding protein polymorphisms. Nutrition 2019; 63–64: 148–54. |
[11] | Cooke NE, Willard HF, David E V., George DL. Direct regional assignment of the gene for vitamin D binding protein (Gc-globulin) to human chromosome 4q11-q13 and identification of an associated DNA polymorphism. Hum Genet 1986; 73: 225–9. |
[12] | Malik S, Fu L, Juras DJ, Karmali M, Wong BYL, Gozdzik A, et al. Common variants of the vitamin D binding protein gene and adverse health outcomes. Crit Rev Clin Lab Sci 2013; 50: 1–22. |
[13] | Kamboh MI, Ferrell RE. Ethnic variation in vitamin D-binding protein (GC): a review of isoelectric focusing studies in human populations. Hum Genet 1986; 72: 281–93. |
[14] | Mogire RM, Morovat A, Muriuki JM, Mentzer AJ, Webb EL, Kimita W, et al. Prevalence and predictors of vitamin D deficiency in young African children. BMC Med 2021; 19: 115. |
[15] | Blanton D, Han Z, Bierschenk L, Linga-Reddy MVP, Wang H, Clare-Salzler M, et al. Reduced Serum Vitamin D–Binding Protein Levels Are Associated With Type 1 Diabetes. Diabetes 2011; 60: 2566–70. |
[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. |
[18] | Langer-Gould A, Lucas R, Xiang A, Wu J, Chen L, Gonzales E, et al. Vitamin D-Binding Protein Polymorphisms, 25-Hydroxyvitamin D, Sunshine and Multiple Sclerosis. Nutrients 2018; 10: 184. |
[19] | Lefranc M-P, Chibani J, Helal AN, Boukef K, Seger J, Lefranc G. Human transferrin (Tf) and group-specific component (Gc) subtypes in Tunisia. Hum Genet 1981; 59: 60–3. |
[20] | Navas-Nazario A, Li FY, Shabanova V, Weiss P, Cole DEC, Carpenter TO, et al. Effect of vitamin D–binding protein genotype on the development of asthma in children. Annals of Allergy, Asthma & Immunology 2014; 112: 519–24. |
[21] | Powe CE, Evans MK, Wenger J, Zonderman AB, Berg AH, Nalls M, et al. Vitamin D–Binding Protein and Vitamin D Status of Black Americans and White Americans. New England Journal of Medicine 2013; 369: 1991–2000. |
[22] | Bouillon R. Genetic and Racial Differences in the Vitamin D Endocrine System. Endocrinol Metab Clin North Am 2017; 46: 1119–35. |
[23] | Nissen J, Vogel U, Ravn-Haren G, Andersen EW, Madsen KH, Nexø BA, et al. Common variants in CYP2R1 and GC genes are both determinants of serum 25-hydroxyvitamin D concentrations after UVB irradiation and after consumption of vitamin D3–fortified bread and milk during winter in Denmark. Am J Clin Nutr 2015; 101: 218–27. |
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
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
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
@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} }
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 -