Research press release


Nature Genetics

Genetic factors influencing sexual activity



今回、K Ong、J Perryたちの研究グループは、英国バイオバンク研究に参加した12万5千人以上(男性59,357人と女性66,310人、年齢40~69歳)を対象としたゲノムワイド関連解析を行い、AFSに関連する38の遺伝子バリアントを同定した。この解析結果は、アイスランドの241,910人の男女と女性ゲノム健康研究(Women's Genome Health Study)に参加した20,187人の健康なヨーロッパ系米国人女性(年齢45歳より高齢)で再現された。今回の解析で、AFSとAFBへの遺伝要因の関与は中程度であり、両者が独立して思春期年齢と遺伝学的に相関していることが明らかになった。Ongたちは、メンデルランダム化試験という統計的手法を用いて、AFSとAFBに対する思春期年齢の因果関係(思春期年齢が下がると、AFSとAFBも低下する)という推定結果を導いた。また、思春期年齢、AFS、AFBの3つとも社会学的および行動学的影響(例えば、学業成績に対する影響)などをもたらすと予測した。


Genetic variants associated with the age at which a person first engages in sexual intercourse are reported in a paper published online this week in Nature Genetics. The study sheds light on how the timing of puberty may affect age at first sexual intercourse (AFS), and how both affect social and health outcomes.

AFS has been correlated with a number of social and behavioral factors, such as social disadvantage and family instability. Genetic factors also contribute to AFS and related traits, including age at first birth (AFB) in women, although the extent of this contribution is unknown. Genetic variants associated with timing of puberty - which has decreased from an average age of 18 years in 1880 to 12.5 years in 1980 - in both men and women have been recently identified, and some studies have reported a correlation between puberty timing and AFS, suggesting that they may also be correlated at the genetic level.

Ken Ong, John Perry and colleagues conducted a genome-wide association study of more than 125,000 participants (59,357 men and 66,310 women aged 40-69 years) from the UK Biobank study and identified 38 variants associated with AFS. They then replicated these findings in 241,910 men and women from Iceland and 20,187 healthy American women (aged greater than 45 years) of European-ancestry from the Women’s Genome Health Study. The authors found that both AFS and AFB have a moderate genetic component and that both are independently genetically correlated with timing of puberty. The authors used a statistical method called Mendelian randomization to infer a causal effect of puberty timing on AFS and AFB (i.e., earlier puberty leads to earlier AFS and AFB). They also predicted causal effects of all three traits on social and behavioral outcomes, such as educational attainment.

Some of the variants associated with AFS were located in or near genes that have been previously implicated in risk-taking propensity, irritable temperament, number of children, and processes and traits related to brain development. However, whether any of these genes are involved in regulating the timing of puberty, AFS or AFB remains to be determined.

doi: 10.1038/ng.3551

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