A computational model for sex-specific genetic architecture of complex traits in humans: Implications for mapping pain sensitivity

Wang, Chenguang; Cheng, Yun; Liu, Tian; Li, Qin; Fillingim, Roger B; Wallace, Margaret R; Staud, Roland; Kaplan, Lee; Wu, Rongling

doi:10.1186/1744-8069-4-13

Table 1 Diplotypes and their frequencies for each of nine genotypes at two SNPs, and composite diplotypes for one assumed sex-specific risk haplotype chosen from four possible haplotypes.

From: A computational model for sex-specific genetic architecture of complex traits in humans: Implications for mapping pain sensitivity

	Diplotype			Risk Haplotype in Males				Risk Haplotype in Females
Genotype	Configuration	Male Freq.	Female Freq.	[11]	[10]	[01]	[00]	[11]	[10]	[01]	[00]
11/11	[11] [11]	$p_{M_{11}}^{2}$	$p_{F_{11}}^{2}$	AA	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	BB	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$
11/10	[11] [10]	$2 p_{M_{11}} p_{M_{10}}$	$2 p_{F_{11}} p_{F_{10}}$	$A \bar{A}$	$A \bar{A}$	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	$B \bar{B}$	$B \bar{B}$	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$
11/00	[10] [10]	$p_{M_{10}}^{2}$	$p_{F_{10}}^{2}$	$\bar{A} \bar{A}$	AA	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	$\bar{B} \bar{B}$	BB	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$
10/11	[11] [01]	$2 p_{M_{11}} p_{M_{01}}$	$2 p_{F_{11}} p_{F_{01}}$	$A \bar{A}$	$\bar{A} \bar{A}$	$A \bar{A}$	$\bar{A} \bar{A}$	$B \bar{B}$	$\bar{B} \bar{B}$	$B \bar{B}$	$\bar{B} \bar{B}$
10/10	${\begin{matrix} [11] [00] \\ [10] [01] \end{matrix}$	${\begin{matrix} 2 p_{M_{11}} p_{M_{00}} \\ 2 p_{M_{10}} p_{M_{01}} \end{matrix}$	${\begin{matrix} 2 p_{F_{11}} p_{F_{00}} \\ 2 p_{F_{10}} p_{F_{01}} \end{matrix}$	${\begin{matrix} A \bar{A} \\ \bar{A} \bar{A} \end{matrix}$	${\begin{matrix} \bar{A} \bar{A} \\ A \bar{A} \end{matrix}$	${\begin{matrix} \bar{A} \bar{A} \\ A \bar{A} \end{matrix}$	${\begin{matrix} A \bar{A} \\ \bar{A} \bar{A} \end{matrix}$	${\begin{matrix} B \bar{B} \\ \bar{B} \bar{B} \end{matrix}$	${\begin{matrix} \bar{B} \bar{B} \\ B \bar{B} \end{matrix}$	${\begin{matrix} \bar{B} \bar{B} \\ B \bar{B} \end{matrix}$	${\begin{matrix} B \bar{B} \\ \bar{B} \bar{B} \end{matrix}$
10/00	[10] [00]	$2 p_{M_{10}} p_{M_{00}}$	$2 p_{F_{10}} p_{F_{00}}$	$\bar{A} \bar{A}$	$A \bar{A}$	$\bar{A} \bar{A}$	$A \bar{A}$	$\bar{B} \bar{B}$	$B \bar{B}$	$\bar{B} \bar{B}$	$B \bar{B}$
00/11	[01] [01]	$p_{M_{01}}^{2}$	$p_{F_{01}}^{2}$	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	AA	$\bar{A} \bar{A}$	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$	BB	$\bar{B} \bar{B}$
00/10	[01] [00]	$2 p_{M_{01}} p_{M_{00}}$	$2 p_{F_{01}} p_{F_{00}}$	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	$A \bar{A}$	$A \bar{A}$	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$	$B \bar{B}$	$B \bar{B}$
00/00	[00] [00]	$p_{M_{00}}^{2}$	$p_{F_{00}}^{2}$	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	$\bar{A} \bar{A}$	AA	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$	$\bar{B} \bar{B}$	BB

Two alleles for each of the two SNPs are denoted as 1 and 0, respectively. Genotypes at different SNPs are separated by a slash. Diplotypes are the combination of two bracketed maternally and paternally derived haplotypes. By assuming different haplotypes as a risk haplotype (denoted as A for males and B for females), composite diplotypes are accordingly defined and their genotypic values are given.

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ISSN: 1744-8069

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