The South Asian Genome

Abstract

The genetic sequence variation of people from the Indian subcontinent who comprise one-quarter of the world's population, is not well described. We carried out whole genome sequencing of 168 South Asians, along with whole-exome sequencing of 147 South Asians to provide deeper characterisation of coding regions. We identify 12,962,155 autosomal sequence variants, including 2,946,861 new SNPs and 312,738 novel indels. This catalogue of SNPs and indels amongst South Asians provides the first comprehensive map of genetic variation in this major human population, and reveals evidence for selective pressures on genes involved in skin biology, metabolism, infection and immunity. Our results will accelerate the search for the genetic variants underlying susceptibility to disorders such as type-2 diabetes and cardiovascular disease which are highly prevalent amongst South Asians.

PNPLA3 gene in liver diseases

“…The association between PNPLA3 variants and elevated ALT in the general population [7][8][9], or in patients with steatosis assessed by proton magnetic resonance spectroscopy [10], was also reported by various other teams. Interestingly, Sookoian et al replicated the findings of Romeo et al [6] in NAFLD and extended the association to histological severity, including nonalcoholic steatohepatitis (NASH), after adjustment for age, sex, BMI, and insulin resistance [11].…”

Cardiovascular Disease in South Asian Migrants

“…95,96 Many of these studies were conducted in individuals of primarily European decent, however there is emerging evidence of susceptible genes impacting CVD risk in SA. 97 In the EpiDREAM study, 16 SNP were associated with increased CVD risk in Europeans, SA and Latinos at risk of DM. On average, SA had a greater genetic load of SNPs associated with DM risk, yet had a similar degree of association for each SNP, implying that SA had a greater population attributable risk of genetic variants associated with DM.…”

“…Information from this study will hopefully accelerate the identification of genetic variants associated with CVD in SA. 97 A unifying genetic theory explaining a shared predisposition to DM, adipose tissue gain and related CVD risk is the "thrifty gene" hypothesis. If SA evolved during times of resource scarcity, a beneficial phenotype would retain excess nutrients.…”

Low intraindividual variability of activated partial thromboplastin time revealed in a population of 10 487 control individuals

“…QTLs for anticoagulants such as protein C and protein S were also reported [14,15]. A recent study reported on the identification of genetic loci associated with the plasma concentrations of liver enzymes [16].…”