Dr. Puppala received training in anthropology, genetic epidemiology and statistical genetics. She currently studies the genetic basis of complex diseases and their phenotypes. For over a decade, Dr. Puppala has been working in genetic epidemiology and statistical genetics.

Dr. Puppala conducted large data set analyses from extended Mexican American families as part of the San Antonio Family Diabetes/Gallbladder Study. Here, she identified genes responsible for susceptibility to gallbladder disease, hypertension and diabetic kidney disease-related traits. The latter is of particular importance as it is the most common cause of end-stage renal disease.

Dr. Puppala also performed several analyses to data to identify genes and functional variants that contribute to the variation in type 2 diabetes-related traits in Mexican American populations. More recently, she started to analyze data on the primate fetal response to maternal obesity.

She conducts her studies as part of the research group led by Dr. Laura Cox.

Tools and Methods

  • Pedsys and SOLAR
  • Computer Assisted Stereology Toolbox (CAST)
    2.0 system (CAST) to quantify lipid content
    in liver using stereoscopy.
  • Weighted gene co-expression network
    analysis (WGCNA)
  • Ingenuity Pathway Analysis software
  • Partek Genomics Suite
  • ClueGO
  • Galaxy
  • mirbase2

Research Highlights

Genetic linkage analyses

As part of genetic epidemiologic investigation, we identified major susceptibility genes for gallbladder disease for the first time in Mexican American families, (San Antonio Family Diabetes/Gallbladder Study) located on Chromosome 1. We performed a genome-wide linkage analysis and found evidence for a major susceptibility gene that differentially influences glomerular filtration rate, which is used to assess the progression of renal disease. Our studies also identified major genes for systolic blood pressure in the Veterans Administration Genetic Epidemiology Study of Mexican Americans.

Genetic association analyses

We conducted several genetic association analyses to identify and characterize the genetic variants that contribute to the variation in type 2 diabetes related traits in Mexican American populations.

Metabolic risk factors in Mexican American (MA) children 

We looked at cardiometabolic risk factors in children and adolescents without type 2 diabetes, to examine the genetic basis of metabolic syndrome, the genetic basis for correlations between the number of metabolic syndrome components and measures of obesity, insulin resistance, inflammation and physical fitness; and the clustering of MS-related risk factors as influenced by common genetic factors. This study, part of the Mexican American children and adolescents in the San Antonio Family Assessment of Metabolic Risk Indicators in Youth study (SAFARI), also identified a major susceptibility locus influencing preterm birth and metabolites as novel biomarkers for childhood obesity-related traits in Mexican-American children.

Type 2 diabetes gene discovery studies. As collaborators in the type 2 diabetes susceptibility gene discovery project, part of the San Antonio Mexican American Family Studies, we analyzed data to identify genes and functional variants that influence complex disease phenotypes in human sequence data.