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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children
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Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children

机译：埃及自闭症儿童样本中四氢叶酸亚甲基还原酶（MTHFR）基因多态性的基因型与表型相关性研究

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Background Classical autism belongs to a group of heterogeneous neurobehavioral disorders known as autism spectrum disorders (ASDs) characterized by abnormalities in social interaction, impaired communication, and repetitive stereotypic behaviors. Overall, there is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. This study aimed at identification of the C677T polymorphic genotypes of MTHFR gene among the Egyptian children with autism and to correlate them with different phenotypes. Subjects and methods This case-control study included 20children with autism (4.57±1.36years) (13males and 7females) and a normal control group. Assessments by DSM-IV-TR criteria, Stanford-Binet intelligence scale and childhood autism rating scale (CARS) were done. Assay for MTHFR gene mutation C677T was performed on amplified DNA by PCR and subsequent reverse hybridization to immobilized allele-specific biotinylated oligonucleotides probes. Results The relation between low birth weight and occurrence of autism is highly significant ( P <0.01). The delayed motor and social milestones showed a statistically highly significant difference in cases of autism compared to controls ( P <0.01); 50% of autistic patients were heterozygous (CT) for the MTHFR gene, and 15% were homozygotes for the mutant genotype (TT). For the homozygous wild type genotype, 35% of patients were CC ( P <0.05). The segregation of T allele in the homozygous 677TT genotype occurred in 30% of autistic children. Frequency of the T-allele in autistic children is 0.4 compared to an allele frequency of 0.3 among controls ( P <0.01). According to the CARS classification, 70% were severely affected of whom 42.8% were carrying the CT genotype. There was no significant difference between CARS (degree of severity of autism) and C677T polymorphism. There was no significant difference between various genotypes as regards the mean for CARS. There was no statistically significant difference as regards mean gestational age, birth weight and mean age at sitting down among the patient group with different genotypes ( P >0.05). Conclusion Although the 677CT variant alleles significantly increased in patients with autism, it is unlikely that this association alone is sufficient to produce the complex array of symptoms associated with autism. Therefore, a search for additional genomic, metabolic, epigenetic and environmental risk factors should be undertaken.
机译：背景古典自闭症属于一组称为自闭症谱系障碍（ASD）的异质性神经行为障碍，其特征在于社交互动异常，沟通障碍和重复刻板行为。总体而言，与影响叶酸/甲基化周期的常见突变相关的ASD风险增加。本研究旨在鉴定埃及自闭症儿童中MTHFR基因的C677T多态性基因型，并将其与不同的表型相关联。对象和方法该病例对照研究包括20名自闭症儿童（4.57±1.36岁）（13名男性和7名女性）和一个正常对照组。通过DSM-IV-TR标准，斯坦福-比内特智力量表和儿童自闭症评定量表（CARS）进行了评估。通过PCR对MTHFR基因突变的分析进行C677T分析，然后与固定的等位基因特异性生物素化寡核苷酸探针进行反向杂交。结果低出生体重与自闭症发生之间的关系非常显着（P <0.01）。与对照组相比，自闭症患者的运动和社交里程碑延迟显示出统计学上的显着差异（P <0.01）;自闭症患者中有50％是MTHFR基因杂合子（CT），而突变基因型（TT）是纯合子。对于纯合子野生型基因型，35％的患者为CC（P <0.05）。 30％的自闭症儿童中纯合的677TT基因型中T等位基因的分离。自闭症儿童中T等位基因的频率为0.4，而对照组中等位基因的频率为0.3（P <0.01）。根据CARS分类，70％受严重影响，其中42.8％携带CT基因型。 CARS（自闭症严重程度）与C677T多态性之间无显着差异。关于CARS的平均值，各种基因型之间没有显着差异。不同基因型的患者组在平均胎龄，出生体重和坐下平均年龄方面无统计学差异（P> 0.05）。结论尽管677CT变异等位基因在自闭症患者中显着增加，但仅凭这种关联不可能足以产生与自闭症相关的复杂症状。因此，应该寻找其他的基因组，代谢，表观遗传和环境危险因素。

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