Table 8.

Polymorphisms of the MC5R gene and their phenotypic effects in humans and pigs

Species	Position	Studied traits	Effect on	Variant present in breed/population	References
Humans	849C > G Phe209Leu	Skin condition, acne vulgaris	Association not found	Negro, South Indian, Japanese, Polynesian, Caucasian	Hatta et al. (2001)
	Ala81Ala			Negro, South Indian, Japanese, Polynesian, Caucasian
	Asp108Asp			Negro, Inuit, Japanese, Caucasian
	Ser125Ser			Caucasian
	Thr248Thr			Negro, South Indian, Japanese, Polynesian, Caucasian
	PstI, PvuII	Obesity	BMI, fat mass, resting metabolic rate	Caucasian (Canada)	Chagnon et al. (1997)
	185G > T	Obesity	BMI	Caucasian (Finland)	Valli-Jaakola et al. (2008)
	849C > G Phe209Leu	Type 2 diabetes	Type 2 diabetes	Caucasian (Finland)	Valli-Jaakola et al. (2008)
		Mental disorders	G allele predisposes to schizophrenia and bipolar disorder	Caucasian (USA), African American	Miller et al. (2009)
Pigs	303A > G Ala109Thr	Fatness traits	Average daily gain, feed intake, feed conversation G ↑	Large White × Landrace	Kováčik et al. (2012)
		No association studies performed	–	Landrace, Duroc	Kim et al. (2000b)
		Fat deposition, carcass quality traits	Tenth rib back fat thickness	Berkshire, Duroc, Hampshire, Landrace	Emnett et al. (2001)
		Fat deposition, carcass quality traits	Meat colour and tenderness	Berkshire	Emnett et al. (2001)
		Fat deposition, carcass quality traits	Meat quality index	Hampshire	Emnett et al. (2001)
		Fat deposition, carcass quality traits	Intramuscular fat percentage	Landrace	Emnett et al. (2001)
	841C > T	No association studies performed	–	Yorkshire, Chester White	Kim et al. (2000b)