5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals
5-HTTLPR Polymorphism: Analysis in South African Autistic Individuals
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DOI：
10.3378/027.082.0303
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发表时间：
2010-06-01
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影响因子：
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通讯作者：
Bajic, Vladimir B.
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文献类型：
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作者：
Arieff, Zainunisha;Kaur, Mandeep;Bajic, Vladimir B.
血清素转运蛋白启动子长度多态性（5-羟色胺转运蛋白长度多态性；5-HTTLPR）长期以来一直与自闭症和其他精神疾病有关。使用选择性血清素再摄取抑制剂（SSRI）对治疗自闭症的某些症状有积极作用。由于 5-HTTLPR 的 S 或 L 等位基因的存在，这些药物的作用因人而异。对不同自闭症人群进行的研究发现 L 和 S 等位基因的等位基因频率不同。将南非自闭症人群（非洲人、混血儿和高加索人）的等位基因频率和基因型与匹配的南非种族对照人群进行比较。研究发现 *S/*S 基因型与所有南非自闭症种族人群高度显着相关。在南非非洲人口中，7 名（33%）自闭症患者中存在 *S/*S 基因型，但对照受试者中没有，因此发展为自闭症的可能性无限大。与*L/*L 基因型相比，*S/*S 基因型患自闭症的几率在南非混血群体中增加了 10.15 倍，在南非白种人群体中增加了 2.74 倍。南非自闭症人群的等位基因频率也与世界其他自闭症人群的研究进行了比较，发现与日本、韩国和印度人群存在高度显着差异。对于法国、德国、以色列、葡萄牙和美国群体来说，差异并不显着。这是南非第一项针对不同种族背景的自闭症个体的研究，显示 5-HTTLPR 等位基因和基因型频率存在显着差异。这项研究的结果为调查 L 和 S 等位基因在南非自闭症家庭中的传播作用开辟了新途径。
The serotonin transporter promoter length polymorphism (5-hydroxytryptamine transporter length polymorphism; 5-HTTLPR) has long been implicated in autism and other psychiatric disorders. The use of selective serotonin reuptake inhibitors (SSRIs) has a positive effect on treating some symptoms of autism. The effects of these drugs vary in individuals because of the presence of the S or L allele of 5-HTTLPR. Studies performed on various autistic populations have found different allele frequencies for the L and S alleles. Allele frequencies and genotypes of the South African autistic populations (African, mixed, and Caucasian) were compared with matching South African ethnic control populations. The *S/*S genotype was found to be highly significantly associated with all the South African autistic ethnic populations. In the South African African population the *S/*S genotype was present in 7 (33%) of the autistic individuals but in none of the control subjects, yielding infinitely large odds of developing autism. The odds of developing autism with the *S/*S genotype compared to the *L/*L genotype increased 10.15-fold in the South African mixed group and 2.74-fold in the South African Caucasian population. The allele frequency of the South African autistic population was also compared with studies of other autistic populations around the world, and highly significant differences were found with the Japanese, Korean, and Indian population groups. The difference was not significant for the French, German, Israeli, Portuguese, and American groups. This is the first South African study of autistic individuals of different ethnic backgrounds that shows significant differences in allele and genotype frequencies of 5-HTTLPR. The results of this study open new avenues for investigating the role of transmission of the L and S alleles in families with autism in South Africa.