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Abstract：
Collagen sub-types have an important role in corneal structure and are reported to be an important genetic predictor for keratoconus (KC) development, therefore we assessed the association of collagen subtypes by screening non-synonymous polymorphisms of COL4A3 and COL4A4 in South-Asian (Pakistani) patients.
UNASSIGNED: A total of 257 KC sporadic cases, gender and ethnicity matched 253 control individuals were screened for three non-synonymous single nucleotide polymorphisms (SNPs) rs55703767and rs10178458 in COL4A3 and rs2229814 and one synonymous SNP rs2228555 in COL4A4. The genotyping was done by Competitive Allele specific polymerase chain reaction (PCR) and the data were analyzed statistically.
UNASSIGNED: Among the studied SNPs, the COL4A3 rs55703767 GT genotype (dominant model (DM): odds ratio (OR) = 0.243, (95 %CI) = 0.16-0.36, p=>0.0001), and allele-G (OR = 0.35, 95 %CI = 0.26-0.48, p < 0.000)), showed protective association against KC development. While COL4A3 rs10178458 CT genotype (DM: OR = 2.11(95 %CI = 1.16-3.85), COL4A4 rs2229814 TT genotype (RM: OR = 147.778(95 %CI = 20.401-1070.439), (p > 0.05) and allele-T (OR = 2.351(95 %CI = 1.826-3.028), (p > 0.05); COL4A4 rs2228555 AG genotype (DM: OR = 2.370(95 %CI = 1.594-3.524) (<0.0001) and GG genotype (RM: OR = 2.347(95 %CI = 1.587-3.472), (p < 0.0001); and allele-G (OR = 2.024(95 %CI = 1.577-2.597), (p > 0.0001) were observed to be disease associated.
UNASSIGNED: COL4A3 rs10178458 and COL4A4 SNPs rs2229814 and rs2228555 were found to be pathogenic for KC, whereas COL4A3 rs55703767 was found to play a protective role against KC development in South-Asian (Pakistani) Cohort.
UNASSIGNED: A total of 257 KC sporadic cases, gender and ethnicity matched 253 control individuals were screened for three non-synonymous single nucleotide polymorphisms (SNPs) rs55703767and rs10178458 in COL4A3 and rs2229814 and one synonymous SNP rs2228555 in COL4A4. The genotyping was done by Competitive Allele specific polymerase chain reaction (PCR) and the data were analyzed statistically.
UNASSIGNED: Among the studied SNPs, the COL4A3 rs55703767 GT genotype (dominant model (DM): odds ratio (OR) = 0.243, (95 %CI) = 0.16-0.36, p=>0.0001), and allele-G (OR = 0.35, 95 %CI = 0.26-0.48, p < 0.000)), showed protective association against KC development. While COL4A3 rs10178458 CT genotype (DM: OR = 2.11(95 %CI = 1.16-3.85), COL4A4 rs2229814 TT genotype (RM: OR = 147.778(95 %CI = 20.401-1070.439), (p > 0.05) and allele-T (OR = 2.351(95 %CI = 1.826-3.028), (p > 0.05); COL4A4 rs2228555 AG genotype (DM: OR = 2.370(95 %CI = 1.594-3.524) (<0.0001) and GG genotype (RM: OR = 2.347(95 %CI = 1.587-3.472), (p < 0.0001); and allele-G (OR = 2.024(95 %CI = 1.577-2.597), (p > 0.0001) were observed to be disease associated.
UNASSIGNED: COL4A3 rs10178458 and COL4A4 SNPs rs2229814 and rs2228555 were found to be pathogenic for KC, whereas COL4A3 rs55703767 was found to play a protective role against KC development in South-Asian (Pakistani) Cohort.
摘要：
胶原蛋白亚型在角膜结构中具有重要作用，据报道是圆锥角膜（KC）发育的重要遗传预测因子，因此,我们通过筛查南亚(巴基斯坦)患者COL4A3和COL4A4的非同义多态性,评估了胶原亚型之间的相关性.
未经评估：共有257例KC散发病例，性别和种族匹配的253名对照个体在COL4A3和rs2229814中筛选了3个非同义单核苷酸多态性(SNPs)rs55703767和rs10178458,在COL4A4中筛选了1个同义SNPrs2228555.通过竞争性等位基因特异性聚合酶链反应（PCR）进行基因分型，并对数据进行统计学分析。
未经批准：在研究的SNP中，COL4A3rs55703767GT基因型（显性模型（DM）：比值比（OR）=0.243，（95CI）=0.16-0.36，p=>0.0001），和等位基因G（OR=0.35，95CI=0.26-0.48，p<0.000），显示针对KC发育的保护性关联。而COL4A3rs10178458CT基因型（DM：OR=2.11（95CI=1.16-3.85），COL4A4rs2229814TT基因型（RM：OR=147.778（95CI=20.401-1070.439），（p>0.05）和等位基因T（OR=2.351（95CI=1.826-3.028），（p>0.05）；COL4A4rs2228555AG基因型（DM：OR=2.370（95CI=1.594-3.524）（<0.0001）和GG基因型（RM：OR=2.347（95CI=1.587-3.472），（p<0.0001）；和等位基因G（OR=2.024（95CI=1.577-2.597），观察到(p>0.0001)是疾病相关的。
UNASSIGNED：COL4A3rs10178458和COL4A4SNPrs2229814和rs2228555被发现对KC具有致病性，而COL4A3rs55703767被发现在南亚（巴基斯坦）队列中对KC的发展起保护作用。
未经评估：共有257例KC散发病例，性别和种族匹配的253名对照个体在COL4A3和rs2229814中筛选了3个非同义单核苷酸多态性(SNPs)rs55703767和rs10178458,在COL4A4中筛选了1个同义SNPrs2228555.通过竞争性等位基因特异性聚合酶链反应（PCR）进行基因分型，并对数据进行统计学分析。
未经批准：在研究的SNP中，COL4A3rs55703767GT基因型（显性模型（DM）：比值比（OR）=0.243，（95CI）=0.16-0.36，p=>0.0001），和等位基因G（OR=0.35，95CI=0.26-0.48，p<0.000），显示针对KC发育的保护性关联。而COL4A3rs10178458CT基因型（DM：OR=2.11（95CI=1.16-3.85），COL4A4rs2229814TT基因型（RM：OR=147.778（95CI=20.401-1070.439），（p>0.05）和等位基因T（OR=2.351（95CI=1.826-3.028），（p>0.05）；COL4A4rs2228555AG基因型（DM：OR=2.370（95CI=1.594-3.524）（<0.0001）和GG基因型（RM：OR=2.347（95CI=1.587-3.472），（p<0.0001）；和等位基因G（OR=2.024（95CI=1.577-2.597），观察到(p>0.0001)是疾病相关的。
UNASSIGNED：COL4A3rs10178458和COL4A4SNPrs2229814和rs2228555被发现对KC具有致病性，而COL4A3rs55703767被发现在南亚（巴基斯坦）队列中对KC的发展起保护作用。
