Identification of V59L and A953G genotypes distribution in AQP7 and their association with glycerol in overweight/obese Malay patients

Abstract

One significant public health issue contributing to cardiovascular risk factors is obesity. Previous evidence suggested that abnormal glycerol metabolism and aquaporin 7 (AQP7) dysfunction in promoting glycerol influx and efflux from the adipose tissue are among the mechanisms involved in obesity. This pilot study aims to identify the genotype distribution of polymorphisms in the AQP7 gene (AQP7) and to find their association with plasma glycerol. A cross-sectional study was undertaken at Hospital Universiti Teknologi MARA (HUiTM) Sungai Buloh, Selangor, Malaysia, on 56 normal and 44 overweight/obese participants. Anthropometry data was collected from all participants. Blood samples were taken by venipuncture to measure plasma glycerol and subsequently, the genotypes of two SNPs in AQP7 (V59L rs4008659 and A953G rs2989924) were determined for both groups. The genotype distribution and allele frequencies of both SNPs in the AQP7 were established, and their association with plasma glycerol was estimated by logistic regression. Participants in the overweight/obese group had higher plasma glycerol (median = 0.78 mg/dL, Q1-Q3=0.47-1.42) than the normal group. V59L and A953G genotypes distribution between normal and overweight/obese groups showed no significant difference. Logistic regression analysis showed that participants with the A953G (rs2989924) TC genotype had a 71% decreased risk of developing abnormal plasma glycerol when factors such as age, gender, and waist-to-hip ratio (WHR) were controlled. No similar association was seen in the participants with the V59L (rs4008659) genotypes. This study highlighted the potential role of the A953G (rs2989924) TC genotype in reducing the risk of having impaired glycerol metabolism, reflecting its likely protective nature against obesity.