Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children

Table 1

Allele and genotype frequencies of D2S2944 microsatellite repeat in pediatric cataract cases and controls.

PCR Pdt; Size (bp)	(GATA)𝑛 repeats	Allele	Cases; 𝑛=97	Control; 𝑛=110
Allele frequency, 2𝑛 (%)
100	08	1	0 (00)	0 (00)
104	09	2	0 (00)	4 (02)
108	10	3	8 (03)	12 (05)
112	11	4	19 (10)^a	42 (19)^a
116	12	5	48 (25)	69 (31)
120	13	6	50 (26)^b	32 (15)^b
124	14	7	56 (29)	46 (21)
128	15	8	13 (07)	15 (07)
132	16	9	0 (00)	00 (00)
Genotype frequency, 𝑛 (%)
<120	<13	6	26 (27)	48 (44)
<120/≥120	<13/≥13	<6/≥6	24 (25)	31 (28)
≥120	≥13	≥6	47 (48)	31 (28)

Allele and genotype distribution in cases versus controls, respectively: 𝜒² (trend) = 10.981, 𝑃=0.0009, 𝑃_𝑐=0.0063; 𝜒² (trend) = 9.669, 𝑃=0.0019, 𝑃_𝑐=0.0133. ^aOR = 0.45, CI_95% = 0.25–0.81, 𝑃=0.0079, 𝑃_𝑐=0.0553; ^bOR = 2.01, CI_95% = 1.23–3.33, 𝑃=0.0054, 𝑃_𝑐=0.0378. Note—<13 includes all homozygotes with both alleles less than 120 bp PCR pdt length, while <13/>13 includes heterozygotes with at least one 120 bp PCR pdt length allele and ≥13: homozygotes with both alleles more than 120 bp PCR pdt length. Pdt = product.