- 유전자 다형성(SNP, InDel 등)과 표현형(phenotype) 사이의 유전적 연관성을 연구
- 연구 중인 표현형: 주의력 결핍 및 과잉행동장애(ADHD), 조산(Preterm-birth), 임신중독(Preeclampsia), 운동능력(Physical performance)

- 한국인을 포함한 인류의 기원과 집단 구조를 연구
- 미토콘드리아 DNA(mtDNA), Y 염색체 DNA(Y chromosomal DNA) 그리고 상염색체 DNA(Autosomal DNA) 변이를 분석
- MtDNA, Y chromosome haplogroup 분석을 통한 모계, 부계에 따른 유전적 연관성 평가

- 한국인 집단을 대상으로 다양한 마커를 분석
- 개인식별 및 친자확인을 위한 법과학적 통계값 계산

- 집단 분석 및 유전적 연관성 연구에 필요한 통계 프로그램 적용 및 운용
- NGS 데이터 분석을 통한 ADHD 등 복합질환 연관 유전자 마커 발굴 연구

- 물, 토양과 같은 여러 환경 시료들에서 DNA 추출 및 분석
- 분자생물학적 실험을 통한 종 특이적인 변이 확인 및 생산된 DNA 서열정보의 계통분류학적 분석을 통한 생물 종 확인 연구

Attention deficit hyperactivity disorder (ADHD) is a major neurodevelopmental disorder including multiple environmental and biological causes. It is generally reported that the prevalence of ADHD is 4-fold higher in boys than in girls. Previous studies have reported that the Y-linked genes have been significantly associated with neuropsychiatric disorders. Furthermore, several Y chromosome haplogroups have been reported to be related to the development of ADHD symptoms. Therefore, we analyzed the genetic correlation between the Y chromosome haplogroups and ADHD in the Korean boys. Our results showed that the Y chromosome haplogroup O2b (xO2b1) (p = 0.053) and O3a3c1 (p = 0.050) has a trend of borderline statistical significance. In subtype analysis, a significant association was observed between haplogroup O3a3c1 and the ADHD/C [odds ratio (OR), 3.43; 95 % confidence interval (CI), 1.336 – 8.782; p = 0.007]. However, this association could not pass the Bonferroni correction for multiple testing. In conclusion, our results showed a lack of association between Y chromosome haplogroups and the occurrence of ADHD in Korean boys.

Attention deficit hyperactivity disorder (ADHD) is a common and heritable childhood psychiatric disorder. Recently, many studies reported a down-regulated hypothalamus–pituitary–adrenal axis (HPA-axis) with low cortisol levels in children with ADHD. The FK506 binding protein 5 or FKBP5 gene regulates the negative feedback of the HPA-axis, and genetic variants in this gene showed an association with ADHD. We investigated the genetic association between FKBP5 gene polymorphisms and susceptibility to ADHD in Korean children. We conducted a case-control study with 150 ADHD children and 322 controls. Genotyping of FKBP5 rs9394309 and rs7748266 was performed by using polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). Our results showed that rs7748266 polymorphism has significant genotype (p = 0.021) and allele (p = 0.009) frequency differences between children with ADHD and the control group. CT genotype [odds ratio (OR) 1.70, 95 % confidence interval (CI) 1.134–2.540, p = 0.010] and T allele (OR 1.54, 95 % CI 1.114–2.117, p = 0.009) were associated with increased risk of ADHD. In addition, dominant (p = 0.006) and over-dominant genetic (p = 0.016) models showed significant associations with ADHD. In the stratified analysis, a significant result was obtained from the girl samples (p = 0.048). The OR of the girls with ADHD with CT genotype was 2.29 (95 % CI 1.170–4.469, p = 0.014). In contrast to rs7748266 polymorphism, rs9394309 polymorphism did not show any significant result (p > 0.05). Haplotype analysis also revealed a significant difference of the T-G haplotype for rs7748266 – rs9394309 (p = 0.028, global haplotype association p-value of 0.0091). Conclusively, we confirmed that FKBP5 gene polymorphisms were associated with ADHD in Korean children. These results suggested that FKBP5 may factor in the development of ADHD.

PRIMER SET FOR DIAGNOSING ADHD IN KOREAN, KIT FOR DIAGNOSING COMPRISING THE SAME, AND METHOD OF PREDICTING ADHD RISK IN KOREAN USING THEREOF
(출원번호: 1020170006124)

A KIT AND THE METHOD FOR DETERMINING SEED BULLS
(출원번호: 1020160063531)