Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
Gen CNTNAP2 trong chứng tự kỷ chức năng cao: không phát hiện mối liên hệ theo các phương pháp phân tích gia đình và phân tích tổng hợp
Tóm tắt
Gen Protein liên kết với Contactin 2 (CNTNAP2) đã được đề cập là có liên quan đến các triệu chứng khác nhau của rối loạn phổ tự kỷ (ASDs) và các rối loạn phát triển thần kinh khác. Chúng tôi nhằm mục tiêu làm sáng tỏ mối liên hệ di truyền của CNTNAP2 trong chứng tự kỷ chức năng cao (HFA), tập trung vào các triệu chứng đặc trưng của tự kỷ và giảm bớt các yếu tố liên quan đến trí thông minh. Hơn nữa, chúng tôi đã so sánh các phát hiện của chúng tôi bằng cách thực hiện một phân tích tổng hợp ở các bệnh nhân có ASD và chỉ HFA. Một nghiên cứu liên kết trường hợp – đối chứng đã được thực hiện cho HFA (HFA, n = 105; đối chứng, n = 133). Hơn nữa, chúng tôi đã thực hiện một phân tích nghiên cứu liên kết dựa trên gia đình (DFAM) (HFA, n = 44; anh chị em, n = 57). Các cá nhân đã được genotyped cho hai biến thể nucleotide đơn (SNPs) được báo cáo nhiều nhất trong gen CNTNAP2 (rs2710102, rs7794745). Thêm vào đó, một phân tích tổng hợp sử dụng phần mềm MIX2 đã tích hợp các kết quả của chúng tôi với dữ liệu đã được công bố trước đó. Một mối liên hệ có ý nghĩa đối với những người mang T-allele của rs7794745 với HFA đã được tìm thấy trong mẫu trường hợp – đối chứng [OR = 1.547; (95 % CI 1.056–2.266); p = 0.025]. Không có mối liên hệ nào được tìm thấy bởi DFAM với bất kỳ SNP nào của CNTNAP2 với HFA. Phân tích tổng hợp của cả hai SNP không cho thấy mối liên hệ có ý nghĩa với cả ASD và HFA. Tổng thể, bao gồm nghiên cứu trường hợp – đối chứng, các anh chị em, và phân tích tổng hợp, chúng tôi không thể phát hiện bất kỳ mối liên hệ có ý nghĩa nào với gen CNTNAP2 và HFA. Kết quả của chúng tôi chỉ ra rằng CNTNAP2 có thể không đóng vai trò chính trong HFA, mà dường như có ý nghĩa hơn trong các rối loạn phát triển thần kinh hoặc ở các cá nhân có trì hoãn trí tuệ.
Từ khóa
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