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.

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).