Impact of mitochondrial DNA copy number and displacement loop alterations on polycystic ovary syndrome risk in south Indian women.

Sequencing of mitochondrial displacement-loop (D-loop) of polycystic ovary syndrome (PCOS) patients and (n=118) and controls (n=114) of south Indian origin showed significant association of D310 (P=0.042) and A189G (P=0.018) SNPs with PCOS. qRT-PCR analysis revealed significantly diminished mtDNA copy number in PCOS patients compared to controls (P=0.038). Furthermore, mtDNA copy number was significantly lower in PCOS cases carrying D310 and 189G alleles when compared to non-carriers (P=0.001 and 0.006 respectively). The D310 carriers also showed significantly elevated LH/FSH ratio (P=0.026). In conclusion, mtDNA D-loop and copy number alterations may constitute an inheritable risk factor for PCOS in south Indian women.