A common mitchondrial DNA variant is associated with thinness in mothers and their 20-yr-old offspring

Abstract

Cull, and Jo Poulton. A common mitchondrial DNA variant is associated with thinness in mothers and their 20-yr-old offspring.

Detailed Analysis of Variation at and around Mitochondrial Position 16189 in a Large Finnish Cohort Reveals No Significant Associations with Early Growth or Metabolic Phenotypes at Age 31 Years

“…Despite a sample size substantially larger than that deployed in previous studies of variation in the OriB region, we have been unable to substantiate previous associations with birth weight (16), ponderal index (7,16), placental weight (12), adiposity (12,13), or insulin sensitivity (11,14,15).…”

“…Second, the distribution of positive findings has been patchy, with only limited replication (in the strict sense of same allele, same phenotype). For example, three recent case-control studies (8,16,18) could not replicate previously reported associations between mt16189 and T2D (10,11), and whereas the C-tract has been associated with thinness in early life (12), the association may be reversed in later life (12,13). Third, many studies have used genotyping methods susceptible to error or liable to miss potentially relevant variation elsewhere in the OriB region (e.g.…”

“…There have been numerous reports of associations between mt16189 and T2D (10,11), body mass index (BMI) (12,13), and T2D-related intermediate traits including insulin resistance (11,14,15). In addition, the 16189C variant has been associated with lower birth weight (16), lower ponderal index (7,16), and higher placental weight (12).…”

“…In addition, the 16189C variant has been associated with lower birth weight (16), lower ponderal index (7,16), and higher placental weight (12).…”

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

“…The small-size infants, particularly those harbouring the 16189 variant, were subsequently found to have greater early postnatal catch-up growth in comparison with the age-matched infants not harbouring this mtDNA variant. Furthermore, three additional studies from England and Australia found associations between the presence of the 16189 variant and thinness, increased insulin resistance or development of type 2 diabetes in adult life 2 6 19. Recently, increased risk of type 2 diabetes in subjects harbouring the mtDNA 16189 poly-C variant has been observed in many Asian countries 20.…”