首页> 外文期刊>Genetic testing and molecular biomarkers >MTHFR 677TT Alone and IRF6 820GG Together with MTHFR 677CT, but Not MTHFR Al298C, Are Risks for Nonsyndromic Cleft Lip with or without Cleft Palate in an Indian Population
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MTHFR 677TT Alone and IRF6 820GG Together with MTHFR 677CT, but Not MTHFR Al298C, Are Risks for Nonsyndromic Cleft Lip with or without Cleft Palate in an Indian Population

机译:MTHFR 677 tt孤独和IRF6 820一起ggMTHFR 677 ct,但不是MTHFR Al298C,风险Nonsyndromic唇裂有或没有间隙在一个印度人口味

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摘要

To determine the association of three SNPs, IRF6 G820A, MTHFR C677T, and MTHFR Al298C, with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in an Indian population. Method: A total of 323 NSCL/P patients, 116 of their mothers, 108 of their fathers, and 214 normal controls have been examined for the above three SNPs. Result: Frequency of IRF6 GG was 65% in controls, 78% in cases, 84% in case-fathers, and 80% in case-mothers. MTHFR 677T homozygosity was lower than 1% in controls and unaffected parents, while in the group of probands it was much higher (3.4%; OR 4.30). The frequency of CT genotype was also high in the cases and case-mothers (OR 1.89 and 2.2, respectively). MTHFR Al298C did not reveal a statistically significant deviation in allele and genotype frequencies. Conclusion: While MTHFR 677T homozygotes show a significant association with NSCL/P, heterozygotes 677CT are minor risk factors. MTHFR Al298C does not show a risk in any combination of alleles. IRF6 820GG too forms a minor risk. However, combined genotypes IRF6 GG/MTHFR 677CT together form greater risk for NSCL/P.
机译:确定协会三个单核苷酸多态性,IRF6G820A, MTHFR C677T和MTHFR Al298C,nonsyndromic唇裂有或没有间隙口味(NSCL / P)在一个印度人。总共有323 NSCL / P病人,116的他们列祖的母亲,108年,214正常已经检查了上述三个控件单核苷酸多态性。控制,78%的病例中,84%在case-fathers,case-mothers的80%。低于1%,控制和影响的父母,而在群渊源者高得多(3.4%;还在病例和case-mothers(或1.89和2.2,分别)。揭示了统计上显著的偏差等位基因和基因型频率。而MTHFR 677 t该显示显著协会与NSCL / P,杂合子677 ct次要危险因素。风险等位基因的任意组合。也形成了一个小的风险。基因型IRF6 GG / MTHFR 677 ct共同构成更大的风险NSCL / P。

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