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首页> 外文期刊>Brain research >Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal.
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Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal.

机译：基于人口的协会研究和对比连锁不平衡模式显示SLC6A4与西孟加拉邦印度人群自闭症的遗传结合。

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Serotoninergic dysfunction is highly implicated in autism. Serotonin transporter gene (SLC6A4) that regulates synaptic serotonin level has been investigated as a candidate gene for autism, but consensus opinion on possible association is still lacking. Converging evidences of platelet-hyperserotoninemia in approximately 25% of the patients, betterment of ritualistic behavior on administration of SSRI and linkage to chromosome 17q11 harboring SLC6A4, supports the hypothesis that SLC6A4 polymorphisms may contribute towards autism pathology. Our recent report on 5-HTTLPR marker represents the first study on genetic association of SLC6A4 with autism in the Indian population. Further analysis involving additional markers may reinforce the earlier hypothesis. So in the present study, we have investigated the association of a VNTR of 17 bp at intron2 (STin2) and an SNP at 3'UTR (HTT-3'UTR-SNP) of the gene with autism using family and population-based approaches. We have genotyped 421 individuals (93 autistic subjects, their parents and 160 controls) and consistent with other publications, family-based association studies using individual markers (STin2 and HTT-3'UTR-SNP) have not revealed any preferential allelic transmission to the probands. However, the interesting finding of strong linkage disequilibrium (LD) between the markers and significant disease-specific distortion in the distribution of HTT-3'UTR-SNP genotypes (T1chi(2)=5.19, P=0.02; OR=2.89, 95% CI=1.13-7.41) and the specific haplotypes of the two markers (LRS=11.85, p(c)=0.02), with higher frequencies of T/T genotype and 10-T haplotype in autistic cases suggests that either these markers or nearby markers of SLC6A4 that are in LD, may pose a risk towards autism in the Eastern Indian population.
机译：血清酮能功能障碍在自闭症中具有高度含义。调节突触羟色胺水平的血清素转运蛋白基因（SLC6A4）作为自闭症的候选基因进行了研究，但仍然缺乏对可能的关联的共识意见。血小板过度促弓脉血症在约25％的患者中的融合证据，在给予SSRI和染色体17Q11的染色体中携带SLC6A4的染色体中的仪式行为的提高支持，支持SLC6A4多态性可能导致自闭症病理学的假设。我们最近关于5-HTTLPR标记的报告代表了SLC6A4与印度人群自闭症遗传学协会的第一次研究。涉及额外标记的进一步分析可以增强前面的假设。因此，在本研究中，我们研究了在Intron2（STIN2）和3'UTR（HTT-3'UTR-SNP）的vNTR的关联，在基因的3'UTR（HTT-3'UTR-SNP）使用家庭和基于人口的方法的方法。我们已经进行了基因分为421个体（93个自闭症受试者，父母和160个控制），并与其他出版物，使用单独标记的基于家庭的协会研究（STIN2和HTT-3'UTR-SNP）并未透露任何优先的等位基因传播概念。然而，在HTT-3'UTR-SNP基因型的分布中的标记和显着的疾病特异性畸变之间存在强烈的联系不平衡（LD）的有趣发现（T1CHI（2）= 5.19，P = 0.02;或= 2.89,95 ％ci = 1.13-7.41）和两个标记的特定单倍型（LRS = 11.85，p（c）= 0.02），具有较高频率的T / T基因型和10-T单倍型在自闭症中的频率表明这些标记或附近的SLC6A4标记在LD，可能会对东部印度人口中的自闭症带来风险。

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