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International Journal of Molecular and Cellular Medicine، جلد ۹، شماره ۳، صفحات ۲۱۵-۲۲۳
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population |
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| چکیده انگلیسی مقاله |
Down syndrome (DS) is associated with trisomy of the 21st chromosome in more than 95% cases. The extra chromosome mostly derives due to abnormal chromosomal segregation, i.e. non-disjunction, during meiosis. Earlier reports showed that abnormal folate metabolism can lead to DNA hypomethylation and abnormal chromosomal segregation. We analyzed three functional folate gene variants, namely 5-methyltetrahydrofolate-homocysteine methyltransferase rs1805087, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase rs1801394, and reduced folate carrier 1 rs1051266, for contribution in the etiology of DS. Ethnically matched subjects including DS probands (N=183), their parents (N=273), and controls (N=286) were recruited after obtaining informed written consent for participation. Karyotype analysis confirmed trisomy 21 in DS patients recruited. Genomic DNA, purified from peripheral blood leukocytes was used for genotyping of the target sites by PCR based methods, and data obtained was subjected to population- as well as family-based association analysis. Frequency of rs1801394 'G' allele and 'GG' genotype was higher in DS probands (P < 0.0001). Statistically significant higher occurrence of the 'G' allele in parents of DS probands (P < 0.0001) and maternal bias in transmission of the "G" allele was also noticed (P < 0.0001). Genetic model analysis demonstrated rs1801394 "G" as a risk allele under both dominant and recessive models. DS probands also showed higher occurrence of rs1051266 "G" (P = 0.05). Quantitative trait analysis revealed significant negative influence of rs1805087 "A" on birth weight. Screening for rs1801394 "G" could be useful in monitoring the risk of DS, at least in the studied population. |
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| کلیدواژه‌های انگلیسی مقاله |
Down syndrome, DNA hypomethylation, folate, rs1805087, rs1801394, rs1051266 |
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| نویسندگان مقاله |
| Mahasweta Chatterjee
Manovikas Biomedical Research and Diagnostic Centre, MRIH, Kolkata, India.
| Tanusree Saha
Manovikas Biomedical Research and Diagnostic Centre, MRIH, Kolkata, India.
| Subhamita Maitra
Manovikas Biomedical Research and Diagnostic Centre, MRIH, Kolkata, India.
| Swagata Sinha
Manovikas Biomedical Research and Diagnostic Centre, MRIH, Kolkata, India.
| Kanchan Mukhopadhyay
Manovikas Biomedical Research and Diagnostic Centre, MRIH, Kolkata, India.
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| نشانی اینترنتی |
http://ijmcmed.org/browse.php?a_code=A-10-2390-1&slc_lang=en&sid=1 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Genetics & Disease |
| نوع مقاله منتشر شده |
Original Article |
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