Identification of V59L and A953G genotypes distribution in AQP7 gene and their association with glycerol in overweight: obese Malay patients / Dr. Mardhiah Masri

Abstract: Introduction: One of the major public health issues that contributes to cardiovascular risk factors is obesity. Previous evidence suggested that abnormal glycerol metabolism and aquaglyceroporin 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 in AQP7 polymorphisms and to find their association with plasma glycerol.
Methodology: A cross-sectional study was undertaken at Hospital Universiti Teknologi MARA (HUiTM) Sungai Buloh, Selangor, Malaysia, to enroll I 00 study participants (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 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 determined and their association with plasma glycerol was estimated by logistic regression.
Results: Participants in the overweight/obese group had higher plasma glycerol (median = 0.78 mg/<lL, Q I-Q3=0.47-1.42) compared to 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 A953G (rs2989924) TC genotype had 71 % decreased risk of developing abnormal plasma glycerol when factors such as age, gender, and waist: hip ratio (WHR) were controlled. Genotypes ofV59L (rs4008659) did not show any association with plasma glycerol.
Conclusions: This study highlights the potential role of A953G (rs2989924) TC genotype in reducing the risk of having impaired glycerol metabolism reflecting its potential protective nature against obesity.