Research press release


Nature Genetics

Genetic variants influencing multiple traits



今回、J Pickrellたちは、大規模なデータセットが存在する形質や疾患42種類についてゲノムワイド関連解析データを解析して、遺伝学的な重複を同定した。こうした形質や疾患には、計測的形質(例えば、身長、BMI、鼻の大きさ)、神経疾患(例えば、アルツハイマー病、パーキンソン病)、感染症への感受性(例えば、小児の耳の感染症、小児扁桃摘出)が含まれている。その結果、2つ以上の形質と関連するゲノム多様性部位が341か所判明した。例えば、少女の初潮年齢(思春期の開始を示す)が遅いことに関連するバリアントがいくつか見つかったが、これらは少年の声が低くなる年齢の遅いこと、BMIが低いこと、男女両方における身長の増加、男性型脱毛症のリスクの低さにも関連していた。また、今回の研究では、これらの関連形質において思春期の開始時期が因果的役割を果たすことを統計的根拠とともに示した。


Genetic variants that affect more than one human disease or trait are reported in a study published online this week in Nature Genetics. The study shows how seemingly unrelated traits - such as migraine and coronary artery disease - can have partially overlapping underlying genetic factors and identifies some cases where traits may have a causal effect on other traits.

Genome-wide association studies can identify genetic variants that are statistically associated with a trait and that could potentially be involved in causing that trait. Variants that are associated with multiple traits can provide insight into the molecular functions of genes and the relationship between different traits. Most studies of multiple traits, however, have focussed on traits already thought to be related.

Joseph Pickrell and colleagues analyzed genome-wide association data for 42 traits or diseases for which large-scale data sets exist to identify genetic overlap. The traits included anthropometric traits (for example, height, BMI and nose size), neurological diseases (for example, Alzheimer disease and Parkinson disease) and susceptibility to infection (for example, childhood ear infections and tonsillectomy). They found 341 locations of genomic variation associated with at least two traits. For example, several variants associated with later age at menarche in girls (indicating the onset of puberty) were also associated with later age at voice drop in boys, lower BMI, increased height in both sexes and reduced risk of male-pattern baldness. The study found statistical evidence for a causal role of the timing of puberty in these related traits.

The authors also found a small association between individual genetic variants that increase risk of schizophrenia and two autoimmune diseases - Crohn’s disease and ulcerative colitis.

doi: 10.1038/ng.3570

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