High frequency of amerindian MtDNA haplogroups in oral clefts

VIEIRA-MACHADO CD; HERMIDA R; BAILLIET G; POLETTA F; MEREB JC; VIEIRA AR; LÓPEZ-CAMELO JS; ORIOLI I

Buenos Aires

Encuentro; Clearinghouse 37th Annual Meeting / ECLAMC 42a Reunión Anual; 2010

Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC)

Cleft lip with or without cleft palate (CL/P) affects about 1 in 1.000 live births, with a higher frequency reported in populations with Asian and Native North American ancestry (1 in 500). A recent study from ECLAMC identified five geographic areas with high CL/P prevalence. We compared the distribution of Native American mtDNA haplogroups (A, B, C and D) between 124 CL/P cases and 575 controls in a CL/P high prevalence region in Patagonia (Argentina). The controls were non malformed newborns registered by the ECLAMC. We found the following frequencies for each haplogroup: A-6.45% in cases an 4.87% in controls, B – 20.97% in cases and 20.52 % in controls, C – 32.26% in cases and 24.52% in controls, D – 29.03% in cases and 22,96 % inc controls and Other – 11.29% in cases and 27.13% in controls. We found association between matrilineal Amerindian ancestry and susceptibility fo CL/P when we compared Ameridian (A+B+C+D) versus non-Amerindian haplogroups (x2 =13.058; P< 0.001). We did not find a higher frequency of haplogroup D in this region, as described earlier in oral clefts registered by de ECLAMC. These results suggest that Amerindian ancestry might be related to high frequency of oral cleft in this region.