Study of the relationship between variants near CCNL1/LEKR1 and in ADCY5 with low birth weight in a Chinese population

The aim of this study was to test the impact of variants rs900400 (located near LEKR1 and CCNL1) and rs9883204 (located in ADCY5) on birth weight in a Chinese population. We conducted a case–control study including 156 low-birth- weight infants as the case group and 100 normal-birth-weight infants as the control group. The rs900400 and rs9883204 variants were analyzed by gene sequencing in all the participants. Our results revealed a significant difference in the genotype distribution (χ 2 = 10.449, p = 0.005) and allele distribution (χ 2 = 9.277, p = 0.002) of rs900400 between the case group and the control group. The C allele of rs900400 was associated with lower birth weight (OR 1.771 [95 % CI 1.237–2.535]) in the Chinese population. However, the rs9883204 polymorphism was not informative in the Chinese population. Our study shows that the “birth weight-lowering” variant rs900400 located near LEKR1 and CCNL1, which is strongly associated with birth weight in European cohorts, appears to have a similar association in Chinese cohorts. However, the rs9883204 variant located in ADCY5 does not appear to be correlated with low birth weight in the same population. Moreover, we found that the variant rs900400 may also be associated with premature birth, thereby supporting the need for further research in this area.