Table 3. MC4R coding variants and their relationship to haplotype frequencies and transmission ratios of the two-marker haplotype comprising the SNPs rs12970134 (3′end) and rs1943229 (5′end) in the MC4R region.

MC4R coding region	haplotype [rs12970134; rs1943229] (obesity effect allele)a	non-synonymous MC4R polymorphisms (Val103Ile and Ile251Leu) whose major (wild-type) alleles are associated with obesity (787 obesity trios)b					functionally relevant obesity MC4R mutations (525 obesity trios)c
		expected frequency in parents under indepen-dence [%]	estimated frequency in parents [%]	trans-mittedd	non-trans-mittedd	trans-missionratioe	expected frequency in parents under indepen-dence [%]	estimated frequency in parents [%]	trans-mittedd	non-trans-mittedd	trans-missionratioe
MC4R wild-type	[G; G]	61.3	62.2	346.0	412.1	0.84	62.5	64.0	224.2	286.5	0.78
	[A; G]	14.9	15.6	246.0	158.0	1.56	15.6	15.5	168.6	103.9	1.62
	[A; T]	12.7	13.4	177.8	172.8	1.03	13.1	13.2	118.2	122.1	0.97
	[G; T]	6.0	3.3	89.2	98.2	0.91	6.5	6.3	61.0	70.5	0.87
presence of any MC4R variationa	[G; G]	3.2	2.4	27.82	43.76	0.64	1.5	0.5	7.6	5.6	1.36
	[A; G]	0.8	0.1	1.18	2.22	0.53	0.4	0.2	5.6	0	-
	[A; T]	0.7	0	-	-	-	0.3	0.2	3.7	0	-
	[G; T]	0.3	0.03	0.002	1.02	0.002	0.2	0.1	1.1	1.4	0.8

^anote that the minor alleles of the two non-synonymous polymorphisms (Val103Ile and Ile251Leu; left panel) are negatively associated with obesity whereas the functionally relevant mutations (right) are all obesity-related;

^bhere, all 787 obesity trios were incorporated in the haplotype estimation;

^chere, a subset of 525 obesity trios for which information on functionally relevant obesity MC4R mutations was available and incorporated in the haplotype estimation;

^ddecimals in transmitted and non-transmitted haplotypes result from haplotype estimations;

^etransmission ratios were obtained from FAMHAP (version 18).