Analysis of COL1A1_1 gene (rs1107946) polymorphism as a risk factor for low birth weight
DOI:
https://doi.org/10.14739/2310-1210.2019.4.173342Keywords:
allelic genes, genotyp, collagen, thinness, babiesAbstract
Objective. Identification of the CA genotype of the (rs1107946) polymorphism of COL1A1_1 gene and the pattern of allele distribution in low birth weight babies.
Materials and methods. A total of 168 babies were examined. The babies were divided into 3 groups depending on the birth weight: the 1st group comprised of 52 babies (birth weight was 1500–1999 g), the 2nd group – 76 babies (birth weight was 2000–2499 g) and the 3rd group – 40 babies (birth weight was more than 2500 g, that is they had normal birth weight). Polymerase chain reaction genotyping method was used.
Results. It was found that the frequency of the C allele detection was equal to 39.60 %, the A allele – 60.42 %, chi-square (df = 1) 29.17, P < 0.05. At the same time, the homozygous AA genotype was observed significantly more often and amounted to 52.98 % versus 32.14 % of the CC genotype cases. The heterozygous CA genotype was detected only in 14.9 % of children, significantly less than homozygous genotypes CC (df = 1) 13.92, P < 0.05 and AA (df = 1) 54.38, P <0.05. The AA genotype of the (rs1107946) polymorphism of COL1A1_1 gene was found among babies of the 1st and 2nd groups in 61.53 % and 52.63 %, CC – 23.08 % and 31.58 %, CA – 15.38 % and 15.79 % of cases, respectively. The CC genotype of the polymorphism was detected almost in half of babies from the 3rd group (47.5 %), while the AA genotype was detected only in 35.0 % and the CA genotype – in 17.5%.
Conclusions. The molecular and genetic study of the CA genotype of the (rs1107946) polymorphism of COL1A1_1 gene showed that the determination of the A allele frequency was significantly higher than the C allele among the examined babies. Consequently, the homozygous AA genotype was significantly more common than the CC genotype. The results of the study indicated the prognostic value of the A allelic gene for the risk of low birth weight – that is, the lower birth weight (1500–1999) was found in babies with homozygous AA genotype.
References
Luyckx, V. A., & Brenner, B. M. (2015). Birth weight, malnutrition and kidney-associated outcomes - a global concern. Nature Reviews Nephrology, 11(3), 135–149, doi: 10.1038/nrneph.2014.251
Euser, A. M., de Wit, C. C., Finken, M. J., Rijken, M., & Wit, J. M. (2008). Growth of preterm born children. Horm Res, 70(6), 319-28. doi: 10.1159/000161862
Anderson, K. R., Schoch, J. J., Lohse, C. M., Hand, J. L., Davis, D. M., & Tollefson, M. M. (2016). Increasing incidence of infantile hemangiomas (IH) over the past 35 years: Correlation with decreasing gestational age at birth and birth weight. Journal of the American Academy of Dermatology. 74(1), 120–126. doi: 10.1016/j.jaad.2015.08.024
Morrison, K. M., Ramsingh, L., Gunn, E., Streiner, D., Van Lieshout, R., Boyle, M., et al. (2016). Cardiometabolic Health in Adults Born Premature With Extremely Low Birth Weight. Pediatrics, 138(4).
Khalsa, D. D., Beydoun, H. A., & Carmody, J. B. (2016). Prevalence of chronic kidney disease risk factors among low birth weight adolescents. Pediatric Nephrology, 31(9), 1509–1516. doi: 10.1007/s00467-016-3384-7
Synnes, A., Luu, T. M., Moddemann, D., Church, P., Lee, D., Vincer, M., et al. (2017). Determinants of developmental outcomes in a very preterm Canadian cohort. Archives of Disease in Childhood - Fetal and Neonatal Edition, 102(3), F235–F234. doi: 10.1136/archdischild-2016-311228
Zavadenko, N. N., & Davydova, L. A. (2018) Nedonoshennost' i nizkaya massa tela pri rozhdenii kak factory riska narushenij nervno-psikhicheskogo razvitiya u detej [Prematurity and low birth weight as risk factors for neurodevelopmental disorders in children]. Rossijskij vestnik perinatologii i pediatrii, 63(4), 43–51. doi: 10.21508/1027–4065–2018–63–4–43–51
Linsell, L., Malouf, R., Johnson, S., Morris, J., Kurinczuk, J. J., & Marlow, N. (2016). Prognostic Factors for Behavioral Problems and Psychiatric Disorders in Children Born Very Preterm or Very Low Birth Weight: A Systematic Review. J Dev Behav Pediatr, 37(1), 88–102. doi: 10.1097/DBP.0000000000000238
Sucksdorff, M., Lehtonen, L., Chudal, R., Suominen, A., Joelsson, P., Gissler, M., & Sourander, A. (2015). Preterm Birth and Poor Fetal Growth as Risk Factors of Attention-Deficit/Hyperactivity Disorder. Pediatrics, 136(3), e599-608. doi: 10.1542/peds.2015-1043
Kelishadi, R., Haghdoost, A. A., Jamshidi, F., Aliramezany, M., & Moosazadeh, M. (2015). Low birthweight or rapid catch-up growth: which is more associated with cardiovascular disease and its risk factors in later life? A systematic review and cryptanalysis. Paediatrics and International Child Health, 35(2), 110–23. doi: 10.1179/2046905514Y.0000000136
Jornayvaz, F. R., Vollenweider, P., Bochud, M., Mooser, V., Waeber, G., & Marques-Vidal, P. (2016). Low birth weight leads to obesity, diabetes and increased leptin levels in adults: the CoLaus study. Cardiovascular Diabetology, 15, 73. doi: 10.1186/s12933-016-0389-2
Demelash, H., Motbainor, A., Nigatu, D., Gashaw, K., & Melese, A. (2015). Risk factors for low birth weight in Bale zone hospitals, South-East Ethiopia: a case–control study. BMC Pregnancy and Childbirth, 15, 264. doi: 10.1186/s12884-015-0677-y
Kiseleva, L. G., Chumakova, G. N., Soloviev, A. G., Kharkova, O. A., Gryzunova, E. M., & Makarova, A. A. (2017). Zaderzhka razvitiya ploda pri tabakokurenii materej [Fetal growth restriction in smoking mothers]. Neonatologiya: novosti, mneniya, obuchenie, 3(17), 89–96. [in Russian].
Synnes, A., Luu, T. M., Moddemann, D., Church, P., Lee, D., Vincer, M., et al. (2017). Determinants of developmental outcomes in a very preterm Canadian cohort. ADC Fetal & Neonatal Edition, 102(3), F235-F234. doi: 10.1136/archdischild-2016-311228
Connolly, N., Anixt, J., Manning, P., Ping-I Lin, D., Marsolo, K. A., & Bowers, K. (2016) Maternal metabolic risk factors for autism spectrum disorder—An analysis of electronic medical records and linked birth data. Autism research, 9(8), 829–837. doi: 10.1002/aur.1586
Zhang, G., Bacelis, J., Lengyel, C., Teramo, K., Hallman, M., Helgeland, Ø., et al. (2015). Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLOS Medicine, 12(8), e1001865. doi: 10.1371/journal.pmed.1001865
Gesteiro, E., Sánchez-Muniz, F. J., Ortega-Azorín, C., Guillén, M., Corella, D., & Bastida, S. (2017). Maternal and neonatal FTO rs9939609 polymorphism affect insulin sensitivity markers and lipoprotein profile at birth in appropriate-for-gestational-age term neonates. Journal of Physiology and Biochemistry., 72(2), 169–181. doi: 10.1007/s13105-016-0467-7
Wu, H., Zhu, P., Geng, X., Liu, Z., Cui, L., Gao, Z., et al. (2017). Genetic polymorphism of MTHFR C677T with preterm birth and low birth weight susceptibility: a meta-analysis. Arch Gynecol Obstet, 295(5), 1105–1118, doi: 10.1007/s00404-017-4322-z
Chen, S., Zhu, R., Zhu, H., Yang, H., Gong, F., Wang, L., et al. (2017). The prevalence and risk factors of preterm small-for-gestational-age infants: a population-based retrospective cohort study in rural Chinese population. BMC Pregnancy and Childbirth, 17(1), 237. doi: 10.1186/s12884-017-1412-7
Finken, M. J., Schrevel, M., Houwing-Duistermaat, J. J., Kharagjitsingh, A. V., Dekker, F. W., Koeleman, B. P., et al. (2016). Vitamin D receptor polymorphisms and growth until adulthood after very premature birth. Journal of Bone and Mineral Metabolism, 34(5), 564–570. doi: 10.1007/s00774-015-0697-8
Thomas, S., Arbuckle, T. E., Fisher, M., Fraser, W. D., Ettinger, A.,& King, W. (2015). Metals exposure and risk of small-for-gestational age birth in a Canadian birth cohort: The MIREC study. Environmental Research, 140, 430–439. doi: 10.1016/j.envres.2015.04.018
Pearce, B. D., Nguyen, P. H., Gonzalez-Casanova, I., Qian, Y., Omer, S. B, Martorell, R., & Ramakrishnan, U. (2016). Pre-pregnancy maternal plasma cytokine levels and risks of small-for-gestational-age at birth. The Journal of Maternal-Fetal & Neonatal Medicine, 29(24), 4065–4069. doi: 10.3109/14767058.2016.1156669
Seiko, Sasaki, Mariko, Limpar, Fumihiro, Sata, Sumitaka, Kobayashi, & Reiko, Kishi. (2017). Interaction between maternal caffeine intake during pregnancy and CYP1A2C164A polymorphism affects infant birth size in the Hokkaido study. Pediatric Research, 82, 19–28. https://www.nature.com/articles/pr201770
Alegina, E. V., Tetruashvil, N. K., Agadzhanova, A. A., Trofimov, D. Yu., & Donnikov, A. E. (2016). Role of Collagen Gene Polymorphisms in the Structure of Early Gestation Loss. Bulletin of Experimental Biology and Medicine, 160(3), 360–363. doi: 10.1007/s10517-016-3171-2
Arseni, L., Lombardi, A., & Orioli, D. (2018). From Structure to Phenotype Impact of Collagen Alterations on Human Health. International Journal of Molecular Sciences, 19(5). doi: 10.3390/ijms19051407
Ensembl Project Retrieved from http://www.ensembl.org/ http://www.ensembl.org/Homo_sapiens/Variation/Citations?db=core;r=17:50203129-50204129;v=rs1107946;vdb=variation;vf=362559692.
Downloads
How to Cite
Issue
Section
License
Authors who publish with this journal agree to the following terms:- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access)
