Joseph Anjaly, Thirupathamma Maradana, Mathews Elezebeth, Alagu Manickavelu
Department of Public Health and Community Medicine, Central University of Kerala, Kasaragod, Kerala 671320 India.
Department of Genomic Science, Central University of Kerala, Kasaragod, Kerala 671320 India.
Egypt J Med Hum Genet. 2022;23(1):135. doi: 10.1186/s43042-022-00346-1. Epub 2022 Sep 2.
Non-communicable diseases such as cardiovascular diseases, respiratory diseases and diabetes contribute to the majority of deaths in India. Public health programmes on non-communicable diseases (NCD) prevention primarily target the behavioural risk factors of the population. Hereditary is known as a risk factor for most NCDs, specifically, type 2 diabetes mellitus (T2DM), and hence, understanding of the genetic markers of T2DM may facilitate prevention, early case detection and management.
We reviewed the studies that explored marker-trait association with type 2 diabetes mellitus globally, with emphasis on India. Globally, single nucleotide polymorphisms (SNPs) rs7903146 of Transcription Factor 7-like 2 (TCF7L2) gene was common, though there were alleles that were unique to specific populations. Within India, the state-wise data were also taken to foresee the distribution of risk/susceptible alleles. The findings from India showcased the common and unique alleles for each region.
Exploring the known and unknown genetic determinants might assist in risk prediction before the onset of behavioural risk factors and deploy prevention measures. Most studies were conducted in non-representative groups with inherent limitations such as smaller sample size or looking into only specific marker-trait associations. Genome-wide association studies using data from extensive prospective studies are required in highly prevalent regions worldwide. Further research is required to understand the singular effect and the interaction of genes in predicting diabetes mellitus and other comorbidities.
心血管疾病、呼吸系统疾病和糖尿病等非传染性疾病是印度大多数死亡的原因。非传染性疾病(NCD)预防公共卫生项目主要针对人群的行为风险因素。遗传因素是大多数非传染性疾病的风险因素,特别是2型糖尿病(T2DM),因此,了解T2DM的遗传标记可能有助于预防、早期病例检测和管理。
我们回顾了全球范围内探索与2型糖尿病标记-性状关联的研究,重点是印度。在全球范围内,转录因子7样2(TCF7L2)基因的单核苷酸多态性(SNP)rs7903146很常见,不过也有特定人群特有的等位基因。在印度国内,还获取了各邦的数据,以预测风险/易感等位基因的分布。印度的研究结果展示了每个地区常见和独特的等位基因。
探索已知和未知的遗传决定因素可能有助于在行为风险因素出现之前进行风险预测,并采取预防措施。大多数研究是在具有内在局限性的非代表性群体中进行的,如样本量较小或仅研究特定的标记-性状关联。需要在全球高流行地区开展基于广泛前瞻性研究数据的全基因组关联研究。还需要进一步研究,以了解基因在预测糖尿病和其他合并症中的单一作用和相互作用。