Editing Peroxisome proliferator-activated receptor (section)

== Genetics ==
The three main forms of PPAR are transcribed from different [[gene]]s:
* PPARα - [[chromosome 22]]q12-13.1 (OMIM [https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=170998 170998])
* PPARβ/δ - [[chromosome 6]]p21.2-21.1 (OMIM [https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=600409 600409])
* [[PPARγ]] - [[chromosome 3]]p25 (OMIM [https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=601487 601487]).

Hereditary disorders of all 3 of these PPARs have been described, generally leading to a loss in function and concomitant [[lipodystrophy]], [[insulin resistance]], and/or [[acanthosis nigricans]].<ref name="pmid15464424">{{cite journal | vauthors = Meirhaeghe A, Amouyel P | title = Impact of genetic variation of PPARgamma in humans | journal = Mol. Genet. Metab. | volume = 83 | issue = 1–2 | pages = 93–102 | year = 2004 | pmid = 15464424 | doi = 10.1016/j.ymgme.2004.08.014 }}</ref> Of [[PPARγ]], a gain-of-function [[mutation]] has been described and studied: [[Proline|Pro]]12[[Alanine|Ala]], which decreases the risk of [[insulin resistance]]. It is quite prevalent, with an [[allele]] frequency of 0.03 - 0.12 in some populations.<ref name="pmid15367918">{{cite journal | vauthors = Buzzetti R, Petrone A, Ribaudo MC, Alemanno I, Zavarella S, Mein CA, Maiani F, Tiberti C, Baroni MG, Vecci E, Arca M, Leonetti F, Di Mario U | title = The common PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivity | journal = European Journal of Human Genetics | volume = 12 | issue = 12 | pages = 1050–4 | year = 2004 | pmid = 15367918 | doi = 10.1038/sj.ejhg.5201283 | doi-access = free }}</ref> In contrast, [[Proline|pro]]115[[glutamine|gln]] is associated with [[obesity]]. Certain other [[polymorphism (biology)|polymorphism]]s in PPAR show a  high incidence in populations with elevated [[body mass index]]es.