Arieff Zainunisha, Kaur Mandeep, Gameeldien Hajirah, van der Merwe Lize, Bajic Vladimir B
Department of Biotechnology, University of the Western Cape, Private Bag X17, Bellville 7535, Cape Town, South Africa.
Hum Biol. 2010 Jun;82(3):291-300. doi: 10.3378/027.082.0303.
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.
血清素转运体启动子长度多态性（5-羟色胺转运体长度多态性；5-HTTLPR）长期以来一直被认为与自闭症及其他精神疾病有关。使用选择性5-羟色胺再摄取抑制剂（SSRI）对治疗自闭症的某些症状有积极作用。由于存在5-HTTLPR的S或L等位基因，这些药物的效果在个体间存在差异。对不同自闭症群体进行的研究发现，L和S等位基因的频率不同。将南非自闭症群体（非洲裔、混血和白种人）的等位基因频率和基因型与匹配的南非种族对照群体进行了比较。发现*S/S基因型与所有南非自闭症种族群体高度显著相关。在南非非洲裔群体中，7名（33%）自闭症个体存在S/S基因型，而对照个体中均无此基因型，这使得患自闭症的几率无限大。与L/L基因型相比，南非混血群体中S/*S基因型患自闭症的几率增加了10.15倍，南非白种人群体中增加了2.74倍。还将南非自闭症群体的等位基因频率与世界其他自闭症群体的研究进行了比较，发现与日本、韩国和印度群体有高度显著差异。与法国、德国、以色列、葡萄牙和美国群体的差异不显著。这是南非第一项针对不同种族背景自闭症个体的研究，显示5-HTTLPR的等位基因和基因型频率存在显著差异。这项研究的结果为调查南非自闭症家庭中L和S等位基因的传递作用开辟了新途径。
