A genetic variant in a homocysteine metabolic gene that increases the risk of congenital cardiac septal defects in Han Chinese populations.

Elevated homocysteine levels are known to be a risk factor for congenital cardiac septal defects (CCSDs), but the mechanism underlying this effect is unknown. The genetic variants that were significantly associated with circulating homocysteine concentrations have been systematically identified through the genome-wide association studies of one-carbon core metabolites. To examine the role of the genome-wide significant homocysteine related variants in the occurrence of CCSDs, we investigated the association between these variants and CCSDs in Han Chinese populations. Five variants of the genome-wide significant homocysteine-related genes were selected for analysis in two stages of case-controlled studies with a total of 904 CCSD patients and 997 controls. SYT9 expression was detected in human cardiovascular tissue using qRT-PCR. The intronic variant rs11041321 of the SYT9 gene was associated with an increased risk of developing CCSDs in both the separate and combined case-controlled studies. Combined samples from the two stage cohorts had a significant elevation in CCSD risk for the T allele (OR = 1.43, P = 2.6 × 10-6 ), CT genotype and TT genotype (CT: OR = 1.30, TT: OR = 2.21; P = 1 × 10-4 ) compared with the wild-type C allele and CC genotype, respectively. The risky T allele carriers exhibited decreased SYT9 mRNA expression, compared with wild-type C allele carriers. The intronic SYT9 variant rs11041321, which exhibits a significant genome-wide association with circulating homocysteine, was associated with the occurrence of CCSDs. This finding helps to characterize the unexpected role of SYT9 in homocysteine metabolism and the development of CCSDs, which further highlighted the interplay of diet, genetics, and human birth defects. © 2017 IUBMB Life, 69(9):700-705, 2017.

Study on the correlation between the seven single nucleotide polymorphisms and genesis of type 2 diabetes mellitus / 中国糖尿病杂志

Objective To investigate onthe correlation between the seven single nucleotide polymorphisms and genesis of T2DM. Methods High‐resolution melting (HRM ) curve technology was used to detect thegenotype of the seven SNPs in 202 T2DM patients and 200 healthy volunteers. The relationship between susceptible gene polymorphism and T 2DM was analyzed. Results The frequency of five SNP loci rs8050136 ,rs13266634 ,rs7578597 ,rs864745 and rs7961581 showed significant differences between T2DM patients and controls ( P1 ,while OR of rs7961581 was <1. There was no significant difference in rs10811661 and rs10923931 loci between T2DM patients and controls (OR=1). Conclusion The polymorphism of loci rs8050136 ,rs13266634 ,rs7578597 and rs864745 is associated with T2DM genesis in this study population , while rs10811661 and rs10923931 is not associated with T 2DM genesis ,and rs7961581 may be a protective factor for T2DM.