Association between RBMS1 gene rs7593730 and BCAR1 gene rs7202877 and Type 2 Diabetes Mellitus in a Chinese Han Population

Abstract

Two recent studies found that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 are related to type 2 diabetes. However, the association of these loci with type 2 diabetes mellitus (T2DM) has not been examined in Chinese. We performed a replication study to investigate the association of the 2 susceptibility loci with T2DM in the Chinese population. We genotyped 1961 Chinese participants (991 with T2DM and 970 controls) for each of the 2 single nucleotide polymorphisms (SNPs) rs7593730 in RBMS1 and rs7202877 near BCAR1 using SNPscan and examined their association with T2DM using logistic regression analysis. We also analyzed the correlation of the SNP alleles and clinical phenotypes. In additive model, genotype association analysis of BCAR1 rs7202877 loci revealed that the homozygous of rs7202877 GG carriers had significantly decreased T2DM risk compared to homozygous carriers of TT (P=0.038, OR 0.44, 95% CI 0.20-0.96). In the recessive model, the GG genotype GG had significantly decreased T2DM risk compared to GT+TT (P=0.043, OR 0.67, 95% CI 0.46-0.99). Allele G was statistically significantly correlated with TC (mmol/L) (P=0.036) and LDL-C (mmol/L) (P=0.007). As for rs7593730, the carriers of CT and TT genotype had significantly decreased T2DM risk compared to the carriers of CC genotype (CT: CC P=0.038, OR 0.71, 95% CI 0.51-0.98; TT: CC P=0.010, OR 0.32, 95% CI 0.13-0.76). In a dominant model, TT+CT: CC (P=0.013, OR 0.673, 95% CI 0.49-0.92) and in a recessive model, TT: CT+CC (P=0.019, OR 0.59, 95% CI 0.39-0.92). The T allele carriers had significantly decreased T2DM risk compared to the carriers of C (P=0.002, OR 0.65, 95% CI 0.50-0.86). Allele T was statistically correlated with FINS (P=0.010). In conclusion, our study showed that RBMS1 gene rs7593730 and BCAR1 gene rs7202877 were significantly associated with type 2 diabetes in the Chinese population.

Multi-Level Comparative Framework Based on Gene Pair-Wise Expression Across Three Insulin Target Tissues for Type 2 Diabetes

“…Besides, FADS2 (Li et al, 2016) were ranked 112 in our prioritized adipose-WDIN (1,675 genes in total), and POLD2 (Gaudet et al, 2011) were ranked 98 in muscle-WDIN (1,747 genes in total). BCAR1 (Kazakova et al, 2018) and CAMK2B (Sacco et al, 2016) also have higher ranks in muscle-WDIN which were 289 and 257 respectively. PPARG (Voight et al, 2010) was ranked 533 in adipose-WDIN, while CPS1 (Matone et al, 2016) had an unsatisfied rank 1,272.…”

Transcriptomic and Proteomic Analysis Reveals the Potential Role of RBMS1 in Adipogenesis and Adipocyte Metabolism

“…Additionally, RBMS1 expression levels have been shown to correlate with cancer progression and patient survival in certain types of cancer. Multiple studies have found that single nucleotide polymorphisms (SNPs) in RBMS1 are linked to the risk of type 2 diabetes mellitus and other obesity-related traits [37,38,41]. Moreover, Rbms1 mRNA expression shows a significant increase in the placenta from obese mothers as compared to lean mothers [42].…”

Physical Activity and DNA Methylation in Humans

“…Six-month endurance exercises with one session of one-hour spinning and two sessions of one-hour aerobic per week depicted methylation differences in 21 of 39 T2D candidate genes, of which Thyroid Adenoma Associated ( THADA ) and RNA Binding Motif Single Stranded Interacting Protein 1 ( RBMS1 ) showed significant differences and 18 of them being nominal differences between groups with family history [ 34 , 45 ]. RBMS1 is involved in DNA replication, transcription, and apoptosis [ 46 ]. In addition, hypomethylation and an increase in expression after endurance exercise were observed in the genes of the transcription factors MEF2A and Runt-Related Transcription Factor 1 ( RUNX1 ), T2D-related THADA , NADH respiratory chain: Ubiquinone Oxidoreductase Subunit C2 ( NDUFC2 ), and also Interleukin 7 ( IL-7 ).…”