В. Мустафина, О. Д. Рымар, А. А. Иванова, Л. В. Щербакова, M. Бобак, К. Малютина, Воевода, В. Н. Максимов, E. S. Mel’nikova, S. Mustafina, O. Rymar, Anastasia A. Ivanova, L. Shcherbakova, Bobak, K. Maljutina, Mihail I. Voevoda, Vladimir N. Maksimov
{"title":"SLC30A8和MC4R基因多态性与2型糖尿病预后的关系","authors":"В. Мустафина, О. Д. Рымар, А. А. Иванова, Л. В. Щербакова, M. Бобак, К. Малютина, Воевода, В. Н. Максимов, E. S. Mel’nikova, S. Mustafina, O. Rymar, Anastasia A. Ivanova, L. Shcherbakova, Bobak, K. Maljutina, Mihail I. Voevoda, Vladimir N. Maksimov","doi":"10.14341/dm12767","DOIUrl":null,"url":null,"abstract":"BACKGROUND: The prevalence of Type 2 diabetes mellitus (T2DM) has reached epidemic proportions and it is estimated to affect over 400 million people worldwide. Moreover, the incidence of diabetes is expected to continue to rise and it is projected to affect nearly one of the three individuals by the year 2050. These alarming projections suggest that there is an urgent need for the development and implementation of novel prevention and treatment strategies to combat the rise in T2DM.AIM: To study the possibility of using polymorphisms of genes SLC30A8 and MC4R as markers for predicting the development of T2D in the population of Novosibirsk.MATERIALS AND METHODS: On the basis of prospective follow-up of a representative population sample of residents of Novosibirsk (The HAPIEE Project), 2 groups were formed according to the “case-control” principle (case — people who had diabetes mellitus 2 over 10 years of follow-up, and control — people who did not developed disorders of carbohydrate metabolism). T2D group (n = 443, mean age 56.2 ± 6.7 years, men — 29.6%, women — 70.4%), control group (n = 532, mean age 56.1 ± 7.1 years, men — 32.7%, women — 67.3%). DNA was isolated by phenol-chloroform extraction. Genotyping was performed by the method of polymerase chain reaction with subsequent analysis of restriction fragment length polymorphism, polymerase chain reaction in real time. Statistical processing was carried out using the SPSS 16.0 software package.RESULTS: Genotype TT rs13266634 of the SLC30A8 gene was associated with the risk of developing T2D (relative risk — RR 1.51, 95% confidence interval — CI 1.11–2.05, p =0.008). The CC genotype rs13266634 of the SLC30A8 gene was associated with a protective effect against T2D (RR 0.57, 95% CI 0.35–0.92, p=0.026). No significant effect of rs17782313 of the MC4R gene on the risk of developing T2D was found.CONCLUSION: The rs13266634 polymorphism of the SLC30A8 gene confirmed its association with the prognosis of the development of T2D, which indicates the possibility of considering it as a candidate for inclusion in a diabetes risk score. The association between polymorphisms rs17782313 of the MC4R gene and the prognosis of the development of T2D was not found.","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association of polymorphisms of genes SLC30A8 and MC4R with the prognosis of the development of type 2 diabetes mellitus\",\"authors\":\"В. Мустафина, О. Д. Рымар, А. А. Иванова, Л. В. Щербакова, M. Бобак, К. Малютина, Воевода, В. Н. Максимов, E. S. Mel’nikova, S. Mustafina, O. Rymar, Anastasia A. Ivanova, L. Shcherbakova, Bobak, K. Maljutina, Mihail I. Voevoda, Vladimir N. Maksimov\",\"doi\":\"10.14341/dm12767\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"BACKGROUND: The prevalence of Type 2 diabetes mellitus (T2DM) has reached epidemic proportions and it is estimated to affect over 400 million people worldwide. Moreover, the incidence of diabetes is expected to continue to rise and it is projected to affect nearly one of the three individuals by the year 2050. These alarming projections suggest that there is an urgent need for the development and implementation of novel prevention and treatment strategies to combat the rise in T2DM.AIM: To study the possibility of using polymorphisms of genes SLC30A8 and MC4R as markers for predicting the development of T2D in the population of Novosibirsk.MATERIALS AND METHODS: On the basis of prospective follow-up of a representative population sample of residents of Novosibirsk (The HAPIEE Project), 2 groups were formed according to the “case-control” principle (case — people who had diabetes mellitus 2 over 10 years of follow-up, and control — people who did not developed disorders of carbohydrate metabolism). T2D group (n = 443, mean age 56.2 ± 6.7 years, men — 29.6%, women — 70.4%), control group (n = 532, mean age 56.1 ± 7.1 years, men — 32.7%, women — 67.3%). DNA was isolated by phenol-chloroform extraction. Genotyping was performed by the method of polymerase chain reaction with subsequent analysis of restriction fragment length polymorphism, polymerase chain reaction in real time. Statistical processing was carried out using the SPSS 16.0 software package.RESULTS: Genotype TT rs13266634 of the SLC30A8 gene was associated with the risk of developing T2D (relative risk — RR 1.51, 95% confidence interval — CI 1.11–2.05, p =0.008). The CC genotype rs13266634 of the SLC30A8 gene was associated with a protective effect against T2D (RR 0.57, 95% CI 0.35–0.92, p=0.026). No significant effect of rs17782313 of the MC4R gene on the risk of developing T2D was found.CONCLUSION: The rs13266634 polymorphism of the SLC30A8 gene confirmed its association with the prognosis of the development of T2D, which indicates the possibility of considering it as a candidate for inclusion in a diabetes risk score. The association between polymorphisms rs17782313 of the MC4R gene and the prognosis of the development of T2D was not found.\",\"PeriodicalId\":73708,\"journal\":{\"name\":\"Journal of diabetes mellitus\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-06-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of diabetes mellitus\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14341/dm12767\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of diabetes mellitus","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14341/dm12767","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
背景:2型糖尿病(T2DM)的患病率已达到流行病的程度,据估计全世界有超过4亿人受其影响。此外,糖尿病的发病率预计将继续上升,预计到2050年将影响近三分之一的人。这些令人担忧的预测表明,迫切需要制定和实施新的预防和治疗策略,以应对2型糖尿病的上升。目的:探讨SLC30A8和MC4R基因多态性作为预测新西伯利亚人群T2D发生的可能性。材料与方法:在对新西伯利亚居民(HAPIEE项目)具有代表性的人群样本进行前瞻性随访的基础上,按照“病例-对照”原则分为两组(病例-随访10年以上的2型糖尿病患者,对照组-未发生碳水化合物代谢障碍的患者)。T2D组(n = 443,平均年龄56.2±6.7岁,男性- 29.6%,女性- 70.4%),对照组(n = 532,平均年龄56.1±7.1岁,男性- 32.7%,女性- 67.3%)。采用苯酚-氯仿萃取法分离DNA。采用聚合酶链反应法进行基因分型,随后进行限制性内切片段长度多态性分析,实时聚合酶链反应。采用SPSS 16.0软件包进行统计处理。结果:SLC30A8基因型TT rs13266634与T2D发生风险相关(相对危险度1.51,95%可信区间CI 1.11-2.05, p =0.008)。SLC30A8基因的CC基因型rs13266634与T2D的保护作用相关(RR 0.57, 95% CI 0.35-0.92, p=0.026)。MC4R基因rs17782313对T2D发病风险无显著影响。结论:SLC30A8基因rs13266634多态性证实其与T2D发展的预后相关,提示可将其纳入糖尿病风险评分。未发现MC4R基因rs17782313多态性与T2D发展的预后之间的相关性。
Association of polymorphisms of genes SLC30A8 and MC4R with the prognosis of the development of type 2 diabetes mellitus
BACKGROUND: The prevalence of Type 2 diabetes mellitus (T2DM) has reached epidemic proportions and it is estimated to affect over 400 million people worldwide. Moreover, the incidence of diabetes is expected to continue to rise and it is projected to affect nearly one of the three individuals by the year 2050. These alarming projections suggest that there is an urgent need for the development and implementation of novel prevention and treatment strategies to combat the rise in T2DM.AIM: To study the possibility of using polymorphisms of genes SLC30A8 and MC4R as markers for predicting the development of T2D in the population of Novosibirsk.MATERIALS AND METHODS: On the basis of prospective follow-up of a representative population sample of residents of Novosibirsk (The HAPIEE Project), 2 groups were formed according to the “case-control” principle (case — people who had diabetes mellitus 2 over 10 years of follow-up, and control — people who did not developed disorders of carbohydrate metabolism). T2D group (n = 443, mean age 56.2 ± 6.7 years, men — 29.6%, women — 70.4%), control group (n = 532, mean age 56.1 ± 7.1 years, men — 32.7%, women — 67.3%). DNA was isolated by phenol-chloroform extraction. Genotyping was performed by the method of polymerase chain reaction with subsequent analysis of restriction fragment length polymorphism, polymerase chain reaction in real time. Statistical processing was carried out using the SPSS 16.0 software package.RESULTS: Genotype TT rs13266634 of the SLC30A8 gene was associated with the risk of developing T2D (relative risk — RR 1.51, 95% confidence interval — CI 1.11–2.05, p =0.008). The CC genotype rs13266634 of the SLC30A8 gene was associated with a protective effect against T2D (RR 0.57, 95% CI 0.35–0.92, p=0.026). No significant effect of rs17782313 of the MC4R gene on the risk of developing T2D was found.CONCLUSION: The rs13266634 polymorphism of the SLC30A8 gene confirmed its association with the prognosis of the development of T2D, which indicates the possibility of considering it as a candidate for inclusion in a diabetes risk score. The association between polymorphisms rs17782313 of the MC4R gene and the prognosis of the development of T2D was not found.