Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder.
Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder.
复制标题
在强迫症的男性中，SLC1A1/EAAC1的功能研究和SLC1A1/EAAC1的罕见变体筛选。
DOI：
10.1097/ypg.0b013e328353fb63
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发表时间：
2012-10
影响因子：
0.9
通讯作者：
Arnold PD
中科院分区：
文献类型：
--
作者：
Veenstra-VanderWeele J;Xu T;Ruggiero AM;Anderson LR;Jones ST;Himle JA;Kennedy JL;Richter MA;Hanna GL;Arnold PD
The neuronal glutamate transporter gene SLC1A1/EAAC1 is associated with obsessive-compulsive disorder (OCD) in several studies, with stronger association in males. Previous studies have primarily focused on common single nucleotide polymorphisms, rather than rare functional variants that are likely to have larger effects. We screened 184 males with OCD for rare variation in SLC1A1 exons. No new coding variation was found. When combined with previous screens, only one SLC1A1 amino acid variant has been detected in 841 subjects screened, less than for other neurotransmitter transporter genes (P = 0.0001). We characterized the function of the one SLC1A1 missense variant previously reported in OCD, Thr164Ala, finding that the Ala164 allele leads to decreased Vmax and Km (P < 0.0001) in transfected HEK cells. Further work will be necessary to understand the impact of this rare SLC1A1/EAAC1 Ala164 variant on neuronal function and circuitry relevant to OCD.
