Polymorphisms in DNA repair and multidrug resistance genes among Sindhis of Central India

• India is one of the most ethnically and genetically diverse regions of the world.
• 6 SNPs in DNA repair and multidrug resistance genes were studied in Indian Sindhis.
• These SNPs could influence susceptibility to cancer and drug disposition.
• We determined the allele and genotype frequencies of these SNPs in Indian Sindhis.
• Sindhis were closely related to Maharshtrians and some other HapMap populations.

Polymorphisms in DNA repair and multidrug resistance genes might contribute to interindividual and interethnic differences in DNA repair capacity and drug disposition respectively. In the present study, we determined the allele and genotype frequencies of four single nucleotide polymorphisms (SNPs) located in the DNA repair genes, XRCC1, XRCC3, XPD, OGG1, namely XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, and OGG1 Ser326Cys, respectively and two SNPs located in the multidrug resistance gene, ABCB1, namely ABCB1 C3435T and ABCB1 C1236T, in 33–35 healthy and unrelated Sindhi individuals, residing in the Vidarbha region of Central India and compared them with the Maharashtrian population from the same geographical region and some other HapMap populations from the HapMap database. The study findings reveal that the Indian Sindhis are closely related to the Maharashtrians as well as Utah residents with Northern and Western European ancestry and Gujarati Indians in Houston, Texas in the HapMap database.