Table 3.

Results of Family-based Association Tests (FBAT) using an additive model of inheritance for associations between tag SNPs at COL1A1 (see Table 2) and CL caused by L. braziliensis in Brazil.

Gene/Marker	Allele	Allele frequency	No families	Var(S)	Z	Pa
Families 101–168
COL1A1_rs1061237	C	0.64	64	8.07	1.90	0.058
COL1A1_rs1061237	T	0.36	64	8.07	−1.90	0.058
COL1A1_rs2586488	G	0.59	64	8.70	0.74	0.462
COL1A1_rs2586488	A	0.41	64	8.70	−0.74	0.462
COL1A1_rs2075554	C	0.74	56	6.14	0.87	0.382
COL1A1_rs2075554	T	0.26	56	6.14	−0.87	0.382
Families 169–325
COL1A1_rs1061237	C	0.66	93	6.72	2.36	0.018
COL1A1_rs1061237	T	0.34	93	6.72	−2.36	0.018
COL1A1_rs2586488	G	0.64	88	5.77	2.30	0.021
COL1A1_rs2586488	A	0.36	88	5.77	−2.30	0.021
COL1A1_rs2075554	C	0.75	78	6.44	0.61	0.542
COL1A1_rs2075554	T	0.25	78	6.44	−0.61	0.542
Combined analysis
COL1A1_rs1061237	C	0.66	157	14.84	3.07	0.002
COL1A1_rs1061237	T	0.34	157	14.84	−3.07	0.002
COL1A1_rs2586488	G	0.63	152	14.66	2.21	0.027
COL1A1_rs2586488	A	0.37	152	14.66	−2.21	0.027
COL1A1_rs2075554	C	0.75	134	12.61	1.08	0.279
COL1A1_rs2075554	T	0.25	134	12.61	−1.08	0.279

N^o Families = number of families informative for the FBAT analysis; V(S) is the variance.

A positive Z-score indicates association with disease; a negative Z-score indicates the non-associated or protective allele.

Bold indicates nominal P<0.05