Associations of INPPL1 (+1893CC/AA and + 2945AA/GG) exonic polymorphisms with the risk of type 2 diabetes mellitus in North Indian population: A case control study

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2021-09-01 DOI:10.1016/j.mgene.2021.100929

Jaswinder Singh , Vikas Kumar , Kiran Bala , Ashish Aneja , Jasbir Singh

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引用次数: 1

Abstract

Background and aim

INPPL1 gene encodes a lipid phosphatase Src homology 2-containing 5′-inositol phosphatase 2 (SHIP2) which is involved in the negative regulation of insulin signaling. In the light of several association studies of INPPL1 gene polymorphisms with T2DM, and the absence of association studies from India, present study was conducted to assess the association of two SNPs of INPPL1 gene with T2DM risk in North Indian population.

Material and method

Two single nucleotide polymorphism (SNPs) (+1893CC/AA and + 2945AA/GG) in INPPL1 gene were genotyped in total of 270 subjects with PCR-RFLP genotyping method.

Results

It was observed that, out of the two SNPs, only +1893CC/AA was found to be significantly associated with T2DM and frequency of A allele (C vs A, p = 0.002) has been found to be significantly higher in T2DM cases. Strong linkage disequilibrium was observed between two SNPs as assessed through D′ and r² (D′ = 0.984, r² = 0.009) and AG haplotype (OR = 3.59, 95% CI (1.59–9.80), p = 0.0015) was associated with increased risk of T2DM while CG haplotype (OR = 0.54, 95% CI (0.33–0.88) p = 0.012) significantly decreases the risk of developing T2DM. Regression analysis showed that SNP +1893CC/AA is associated with T2DM risk when adjusted for clinical/demographic variables.

Conclusion

Results showed that INPPL1 gene polymorphism +1893CC/AA may increase susceptibility to T2DM and ‘A' allele might be serving as a risk factor in development of T2DM in Indian population.

查看原文本刊更多论文

INPPL1（+1893CC/AA和+2945AA/GG）外显子多态性与北印度人群2型糖尿病风险的相关性：一项病例对照研究

背景和目的:ppl1基因编码脂质磷酸酶Src同源2-含5 ' -肌醇磷酸酶2 (SHIP2)，参与胰岛素信号的负向调控。鉴于已有几项关于INPPL1基因多态性与T2DM的关联研究，而印度缺乏相关研究，本研究旨在评估印度北部人群中INPPL1基因的两个snp与T2DM风险的关系。材料与方法采用PCR-RFLP基因分型方法对270例受试者进行INPPL1基因2个单核苷酸多态性(+1893CC/AA和+ 2945AA/GG)分型。结果2个snp中，只有+1893CC/AA与T2DM显著相关，而A等位基因的频率(C vs A, p = 0.002)在T2DM患者中显著较高。通过D′和r2 (D′= 0.984,r2 = 0.009)和AG单倍型(OR = 3.59, 95% CI (1.59-9.80)， p = 0.0015)与T2DM发病风险增加相关，而CG单倍型(OR = 0.54, 95% CI (0.33-0.88) p = 0.012)显著降低T2DM发病风险。回归分析显示，在调整临床/人口统计学变量后，SNP +1893CC/AA与T2DM风险相关。结论INPPL1基因多态性+1893CC/AA可能增加印度人群对T2DM的易感性，“A”等位基因可能是印度人群发生T2DM的危险因素。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.